WFS1_HUMAN
ID WFS1_HUMAN Reviewed; 890 AA.
AC O76024; B2R797; D3DVT1; Q8N6I3; Q9UNW6;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 03-AUG-2022, entry version 206.
DE RecName: Full=Wolframin;
GN Name=WFS1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS WFS1 461-THR--VAL-463 DEL; ILE-333
RP AND CYS-669.
RC TISSUE=Brain;
RX PubMed=9817917; DOI=10.1093/hmg/7.13.2021;
RA Strom T.M., Hoertnagel K., Hofmann S., Gekeler F., Scharfe C., Rabl W.,
RA Gerbitz K.-D., Meitinger T.;
RT "Diabetes insipidus, diabetes mellitus, optic atrophy and deafness
RT (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a
RT predicted transmembrane protein.";
RL Hum. Mol. Genet. 7:2021-2028(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], VARIANTS WFS1 LEU-504; 508-TYR--LEU-512 DEL;
RP VAL-695 AND LEU-724, AND VARIANTS ILE-333; HIS-456 AND HIS-611.
RC TISSUE=Brain;
RX PubMed=9771706; DOI=10.1038/2441;
RA Inoue H., Tanizawa Y., Wasson J., Behn P., Kalidas K., Bernal-Mizrachi E.,
RA Mueckler M., Marshall H., Donis-Keller H., Crock P., Rogers D., Mikuni M.,
RA Kumashiro H., Higashi K., Sobue G., Oka Y., Permutt M.A.;
RT "A gene encoding a transmembrane protein is mutated in patients with
RT diabetes mellitus and optic atrophy (Wolfram Syndrome).";
RL Nat. Genet. 20:143-148(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-333.
RC TISSUE=Amygdala;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT HIS-611.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP FUNCTION.
RX PubMed=16989814; DOI=10.1016/j.febslet.2006.09.007;
RA Takei D., Ishihara H., Yamaguchi S., Yamada T., Tamura A., Katagiri H.,
RA Maruyama Y., Oka Y.;
RT "WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic
RT reticulum.";
RL FEBS Lett. 580:5635-5640(2006).
RN [8]
RP REVIEW ON VARIANTS.
RX PubMed=11317350; DOI=10.1002/humu.1110.abs;
RA Khanim F., Kirk J., Latif F., Barrett T.G.;
RT "WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.";
RL Hum. Mutat. 17:357-367(2001).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [11]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH ATP6V1A.
RX PubMed=23035048; DOI=10.1093/hmg/dds400;
RA Gharanei S., Zatyka M., Astuti D., Fenton J., Sik A., Nagy Z.,
RA Barrett T.G.;
RT "Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram
RT syndrome 1 (WFS1) protein, which regulates its expression and stability.";
RL Hum. Mol. Genet. 22:203-217(2013).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-32, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [13]
RP PHOSPHORYLATION AT THR-30 AND SER-32.
RX PubMed=26091039; DOI=10.1016/j.cell.2015.05.028;
RA Tagliabracci V.S., Wiley S.E., Guo X., Kinch L.N., Durrant E., Wen J.,
RA Xiao J., Cui J., Nguyen K.B., Engel J.L., Coon J.J., Grishin N.,
RA Pinna L.A., Pagliarini D.J., Dixon J.E.;
RT "A single kinase generates the majority of the secreted phosphoproteome.";
RL Cell 161:1619-1632(2015).
RN [14]
RP VARIANTS WFS1, AND VARIANTS ILE-333 AND HIS-611.
RX PubMed=10521293; DOI=10.1086/302609;
RA Hardy C., Khanim F., Torres R., Scott-Brown M., Seller A., Poulton J.,
RA Collier D., Kirk J., Polymeropoulos M., Latif F., Barrett T.;
RT "Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds
RT demonstrating a wide spectrum of mutations in WFS1.";
RL Am. J. Hum. Genet. 65:1279-1290(1999).
RN [15]
RP VARIANTS THR-559 AND HIS-611.
RX PubMed=10624825; DOI=10.1016/s0304-3940(99)00865-4;
RA Furlong R.A., Ho L.W., Rubinsztein J.S., Michael A., Walsh C., Paykel E.S.,
RA Rubinsztein D.C.;
RT "A rare coding variant within the wolframin gene in bipolar and unipolar
RT affective disorder cases.";
RL Neurosci. Lett. 277:123-126(1999).
RN [16]
RP VARIANTS HIS-456; SER-576; HIS-611; CYS-653 AND VAL-720.
RX PubMed=10679252; DOI=10.1006/bbrc.2000.2169;
RA Awata T., Inoue K., Kurihara S., Ohkubo T., Inoue I., Abe T., Takino H.,
RA Kanazawa Y., Katayama S.;
RT "Missense variations of the gene responsible for Wolfram syndrome
RT (WFS1/wolframin) in Japanese: possible contribution of the Arg456His
RT mutation to type 1 diabetes as a nonautoimmune genetic basis.";
RL Biochem. Biophys. Res. Commun. 268:612-616(2000).
RN [17]
RP VARIANTS HIS-456; SER-576; HIS-611; VAL-720 AND LYS-737.
RX PubMed=10760554; DOI=10.1016/s0165-0327(99)00099-3;
RA Ohtsuki T., Ishiguro H., Yoshikawa T., Arinami T.;
RT "WFS1 gene mutation search in depressive patients: detection of five
RT missense polymorphisms but no association with depression or bipolar
RT affective disorder.";
RL J. Affect. Disord. 58:11-17(2000).
RN [18]
RP VARIANTS DFNA6 MET-699; THR-716; MET-779; PRO-829 AND ASP-831, AND VARIANT
RP ILE-333.
RX PubMed=11709537; DOI=10.1093/hmg/10.22.2501;
RA Bespalova I.N., Van Camp G., Bom S.J.H., Brown D.J., Cryns K., DeWan A.T.,
RA Erson A.E., Flothmann K., Kunst H.P.M., Kurnool P., Sivakumaran T.A.,
RA Cremers C.W.R.J., Leal S.M., Burmeister M., Lesperance M.M.;
RT "Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low
RT frequency sensorineural hearing loss.";
RL Hum. Mol. Genet. 10:2501-2508(2001).
RN [19]
RP VARIANT DFNA6 THR-716, AND VARIANTS ARG-107; ILE-333; HIS-611 AND MET-871.
RX PubMed=11709538; DOI=10.1093/hmg/10.22.2509;
RA Young T.-L., Ives E., Lynch E., Person R., Snook S., MacLaren L., Cater T.,
RA Griffin A., Fernandez B., Lee M.K., King M.-C.;
RT "Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous
RT missense mutation in the Wolfram syndrome gene WFS1.";
RL Hum. Mol. Genet. 10:2509-2514(2001).
RN [20]
RP ERRATUM OF PUBMED:11709538.
RA Young T.L., Ives E., Lynch E., Person R., Snook S., MacLaren L., Cater T.,
RA Griffin A., Fernandez B., Lee M.K., King M.C.;
RL Hum. Mol. Genet. 10:3111-3111(2001).
RN [21]
RP VARIANT WFS1 ILE-443, AND VARIANTS ILE-333; HIS-611; VAL-684 AND CYS-708.
RX PubMed=11295831; DOI=10.1002/humu.32;
RA Tessa A., Carbone I., Matteoli M.C., Bruno C., Patrono C., Patera I.P.,
RA De Luca F., Lorini R., Santorelli F.M.;
RT "Identification of novel WFS1 mutations in Italian children with Wolfram
RT syndrome.";
RL Hum. Mutat. 17:348-349(2001).
RN [22]
RP VARIANT DFNA6 THR-634.
RX PubMed=12181639; DOI=10.1007/s100380200057;
RA Komatsu K., Nakamura N., Ghadami M., Matsumoto N., Kishino T., Ohta T.,
RA Niikawa N., Yoshiura K.;
RT "Confirmation of genetic homogeneity of nonsyndromic low-frequency
RT sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a
RT Japanese family.";
RL J. Hum. Genet. 47:395-399(2002).
RN [23]
RP VARIANTS WFS1 VAL-58; THR-126; PHE-350 DEL; PHE-354 DEL; LEU-504; ARG-780
RP AND CYS-818, AND VARIANTS ARG-674 AND LYS-737.
RX PubMed=11161832; DOI=10.1006/mgme.2000.3107;
RA Gomez-Zaera M., Strom T.M., Rodriguez B., Estivill X., Meitinger T.,
RA Nunes V.;
RT "Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.";
RL Mol. Genet. Metab. 72:72-81(2001).
RN [24]
RP VARIANTS WFS1 ASN-110; THR-133; PHE-414 DEL; VAL-415 DEL; SER-457; LEU-468
RP DEL; LEU-504; TRP-540 DEL; TRP-629 AND SER-736, AND VARIANTS VAL-326;
RP ILE-333; HIS-456; HIS-611; VAL-802 AND MET-871.
RX PubMed=15605410; DOI=10.1002/humu.9300;
RA Giuliano F., Bannwarth S., Monnot S., Cano A., Chabrol B., Vialettes B.,
RA Delobel B., Paquis-Flucklinger V.;
RT "Wolfram syndrome in French population: characterization of novel mutations
RT and polymorphisms in the WFS1 gene.";
RL Hum. Mutat. 25:99-100(2005).
RN [25]
RP VARIANT WFSL LYS-864.
RX PubMed=16648378; DOI=10.1136/jmg.2005.034892;
RA Eiberg H., Hansen L., Kjer B., Hansen T., Pedersen O., Bille M.,
RA Rosenberg T., Tranebjaerg L.;
RT "Autosomal dominant optic atrophy associated with hearing impairment and
RT impaired glucose regulation caused by a missense mutation in the WFS1
RT gene.";
RL J. Med. Genet. 43:435-440(2006).
RN [26]
RP VARIANT DFNA6 HIS-669.
RX PubMed=17517145; DOI=10.1186/1471-2350-8-26;
RA Tsai H.T., Wang Y.P., Chung S.F., Lin H.C., Ho G.M., Shu M.T.;
RT "A novel mutation in the WFS1 gene identified in a Taiwanese family with
RT low-frequency hearing impairment.";
RL BMC Med. Genet. 8:26-26(2007).
RN [27]
RP VARIANT DFNA6 GLN-859, AND VARIANTS ILE-333 AND HIS-611.
RX PubMed=18688868; DOI=10.1002/ajmg.a.32449;
RA Hildebrand M.S., Sorensen J.L., Jensen M., Kimberling W.J., Smith R.J.;
RT "Autoimmune disease in a DFNA6/14/38 family carrying a novel missense
RT mutation in WFS1.";
RL Am. J. Med. Genet. A 146:2258-2265(2008).
RN [28]
RP VARIANT DFNA6 PRO-685.
RX PubMed=18518985; DOI=10.1186/1471-2350-9-48;
RA Bramhall N.F., Kallman J.C., Verrall A.M., Street V.A.;
RT "A novel WFS1 mutation in a family with dominant low frequency
RT sensorineural hearing loss with normal VEMP and EcochG findings.";
RL BMC Med. Genet. 9:48-48(2008).
RN [29]
RP VARIANT WFSL ASN-836.
RX PubMed=20069065;
RA Hogewind B.F., Pennings R.J., Hol F.A., Kunst H.P., Hoefsloot E.H.,
RA Cruysberg J.R., Cremers C.W.;
RT "Autosomal dominant optic neuropathy and sensorineural hearing loss
RT associated with a novel mutation of WFS1.";
RL Mol. Vis. 16:26-35(2010).
RN [30]
RP VARIANTS WFSL VAL-684; SER-780 AND TYR-797, VARIANT WFS1 VAL-415 DEL,
RP CHARACTERIZATION OF VARIANTS WFSL VAL-684 AND SER-780, AND CHARACTERIZATION
RP OF VARIANT WFS1 VAL-415 DEL.
RX PubMed=21538838; DOI=10.1002/ajmg.a.33970;
RA Rendtorff N.D., Lodahl M., Boulahbel H., Johansen I.R., Pandya A.,
RA Welch K.O., Norris V.W., Arnos K.S., Bitner-Glindzicz M., Emery S.B.,
RA Mets M.B., Fagerheim T., Eriksson K., Hansen L., Bruhn H., Moller C.,
RA Lindholm S., Ensgaard S., Lesperance M.M., Tranebjaerg L.;
RT "Identification of p.A684V missense mutation in the WFS1 gene as a frequent
RT cause of autosomal dominant optic atrophy and hearing impairment.";
RL Am. J. Med. Genet. A 155:1298-1313(2011).
RN [31]
RP VARIANTS DFNA6 TYR-696 AND HIS-703.
RX PubMed=21356526; DOI=10.1016/j.jcg.2011.01.001;
RA Sun Y., Cheng J., Lu Y., Li J., Lu Y., Jin Z., Dai P., Wang R., Yuan H.;
RT "Identification of two novel missense WFS1 mutations, H696Y and R703H, in
RT patients with non-syndromic low-frequency sensorineural hearing loss.";
RL J. Genet. Genomics 38:71-76(2011).
RN [32]
RP VARIANT WFS1 CYS-558.
RX PubMed=22226368; DOI=10.1186/1471-2350-13-3;
RA Lieber D.S., Vafai S.B., Horton L.C., Slate N.G., Liu S., Borowsky M.L.,
RA Calvo S.E., Schmahmann J.D., Mootha V.K.;
RT "Atypical case of Wolfram syndrome revealed through targeted exome
RT sequencing in a patient with suspected mitochondrial disease.";
RL BMC Med. Genet. 13:3-3(2012).
RN [33]
RP VARIANT LYS-737.
RX PubMed=22938506; DOI=10.1186/1750-1172-7-60;
RA Baek J.I., Oh S.K., Kim D.B., Choi S.Y., Kim U.K., Lee K.Y., Lee S.H.;
RT "Targeted massive parallel sequencing: the effective detection of novel
RT causative mutations associated with hearing loss in small families.";
RL Orphanet J. Rare Dis. 7:60-60(2012).
RN [34]
RP VARIANT CTRCT41 GLY-462.
RX PubMed=23531866; DOI=10.1038/ejhg.2013.52;
RA Berry V., Gregory-Evans C., Emmett W., Waseem N., Raby J., Prescott D.,
RA Moore A.T., Bhattacharya S.S.;
RT "Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear
RT cataract in humans.";
RL Eur. J. Hum. Genet. 21:1356-1360(2013).
RN [35]
RP VARIANT DFNA6 ASN-171.
RX PubMed=24462758; DOI=10.1016/j.gene.2014.01.040;
RA Goncalves A.C., Matos T.D., Simoes-Teixeira H.R., Pimenta Machado M.,
RA Simao M., Dias O.P., Andrea M., Fialho G., Caria H.;
RT "WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel
RT mutation in a Portuguese case.";
RL Gene 538:288-291(2014).
RN [36]
RP VARIANTS DFNA6 CYS-653 AND GLU-680 DEL.
RX PubMed=25388789; DOI=10.1186/s12967-014-0311-1;
RA Wei Q., Zhu H., Qian X., Chen Z., Yao J., Lu Y., Cao X., Xing G.;
RT "Targeted genomic capture and massively parallel sequencing to identify
RT novel variants causing Chinese hereditary hearing loss.";
RL J. Transl. Med. 12:311-311(2014).
CC -!- FUNCTION: Participates in the regulation of cellular Ca(2+)
CC homeostasis, at least partly, by modulating the filling state of the
CC endoplasmic reticulum Ca(2+) store (PubMed:16989814). Negatively
CC regulates the ER stress response and positively regulates the stability
CC of V-ATPase subunits ATP6V1A and ATP1B1 by preventing their degradation
CC through an unknown proteasome-independent mechanism (PubMed:23035048).
CC {ECO:0000269|PubMed:16989814, ECO:0000269|PubMed:23035048}.
CC -!- SUBUNIT: Interacts with ATP6V1A. {ECO:0000269|PubMed:23035048}.
CC -!- INTERACTION:
CC O76024; Q9H172: ABCG4; NbExp=3; IntAct=EBI-720609, EBI-8584118;
CC O76024; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-720609, EBI-10173507;
CC O76024; P20933: AGA; NbExp=3; IntAct=EBI-720609, EBI-1223922;
CC O76024; Q9UIJ7: AK3; NbExp=3; IntAct=EBI-720609, EBI-3916527;
CC O76024; P14550: AKR1A1; NbExp=3; IntAct=EBI-720609, EBI-372388;
CC O76024; P02768-3: ALB; NbExp=3; IntAct=EBI-720609, EBI-25830928;
CC O76024; Q9BS18: ANAPC13; NbExp=3; IntAct=EBI-720609, EBI-2555953;
CC O76024; Q6ZTN6-2: ANKRD13D; NbExp=3; IntAct=EBI-720609, EBI-25840993;
CC O76024; Q8N8A2-2: ANKRD44; NbExp=3; IntAct=EBI-720609, EBI-21636328;
CC O76024; Q92688: ANP32B; NbExp=3; IntAct=EBI-720609, EBI-762428;
CC O76024; P08758: ANXA5; NbExp=3; IntAct=EBI-720609, EBI-296601;
CC O76024; P13928: ANXA8; NbExp=3; IntAct=EBI-720609, EBI-2556915;
CC O76024; D3DTF8: APLN; NbExp=3; IntAct=EBI-720609, EBI-22002556;
CC O76024; P05067: APP; NbExp=3; IntAct=EBI-720609, EBI-77613;
CC O76024; Q13520: AQP6; NbExp=3; IntAct=EBI-720609, EBI-13059134;
CC O76024; O94778: AQP8; NbExp=3; IntAct=EBI-720609, EBI-19124986;
CC O76024; Q9NP61: ARFGAP3; NbExp=3; IntAct=EBI-720609, EBI-2875816;
CC O76024; Q86TN1: ARNT2; NbExp=3; IntAct=EBI-720609, EBI-25844820;
CC O76024; Q9Y575-3: ASB3; NbExp=3; IntAct=EBI-720609, EBI-14199987;
CC O76024; Q6XD76: ASCL4; NbExp=3; IntAct=EBI-720609, EBI-10254793;
CC O76024; Q96FT7-2: ASIC4; NbExp=3; IntAct=EBI-720609, EBI-25898949;
CC O76024; Q96FT7-4: ASIC4; NbExp=3; IntAct=EBI-720609, EBI-9089489;
CC O76024; P05026: ATP1B1; NbExp=6; IntAct=EBI-720609, EBI-714630;
CC O76024; P16615: ATP2A2; NbExp=3; IntAct=EBI-720609, EBI-358933;
CC O76024; P15313: ATP6V1B1; NbExp=3; IntAct=EBI-720609, EBI-2891281;
CC O76024; P21281: ATP6V1B2; NbExp=3; IntAct=EBI-720609, EBI-4290814;
CC O76024; O95817: BAG3; NbExp=3; IntAct=EBI-720609, EBI-747185;
CC O76024; P46379-2: BAG6; NbExp=3; IntAct=EBI-720609, EBI-10988864;
CC O76024; Q9UQB8-6: BAIAP2; NbExp=3; IntAct=EBI-720609, EBI-9092016;
CC O76024; Q8IXM2: BAP18; NbExp=3; IntAct=EBI-720609, EBI-4280811;
CC O76024; Q16520: BATF; NbExp=3; IntAct=EBI-720609, EBI-749503;
CC O76024; Q8WY36-3: BBX; NbExp=3; IntAct=EBI-720609, EBI-22013474;
CC O76024; Q9BXK5: BCL2L13; NbExp=3; IntAct=EBI-720609, EBI-747430;
CC O76024; Q14457: BECN1; NbExp=3; IntAct=EBI-720609, EBI-949378;
CC O76024; Q96LC9: BMF; NbExp=3; IntAct=EBI-720609, EBI-3919268;
CC O76024; Q9GZL8: BPESC1; NbExp=3; IntAct=EBI-720609, EBI-25861458;
CC O76024; Q0VDD7: BRME1; NbExp=3; IntAct=EBI-720609, EBI-741210;
CC O76024; Q9NSI6-4: BRWD1; NbExp=3; IntAct=EBI-720609, EBI-10693038;
CC O76024; Q8WZ55: BSND; NbExp=3; IntAct=EBI-720609, EBI-7996695;
CC O76024; Q9Y297: BTRC; NbExp=3; IntAct=EBI-720609, EBI-307461;
CC O76024; Q9H0W9-4: C11orf54; NbExp=3; IntAct=EBI-720609, EBI-25849710;
CC O76024; Q13901: C1D; NbExp=3; IntAct=EBI-720609, EBI-3844053;
CC O76024; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-720609, EBI-747505;
CC O76024; Q14C60: C21orf29; NbExp=3; IntAct=EBI-720609, EBI-22013264;
CC O76024; Q6P5X5-2: C22orf39; NbExp=3; IntAct=EBI-720609, EBI-10692329;
CC O76024; Q9BVC5: C2orf49; NbExp=3; IntAct=EBI-720609, EBI-5458641;
CC O76024; Q9BRJ6: C7orf50; NbExp=3; IntAct=EBI-720609, EBI-751612;
CC O76024; Q96LL4: C8orf48; NbExp=3; IntAct=EBI-720609, EBI-751596;
CC O76024; Q96NX5: CAMK1G; NbExp=3; IntAct=EBI-720609, EBI-3920838;
CC O76024; Q8N5S9-2: CAMKK1; NbExp=3; IntAct=EBI-720609, EBI-25850646;
CC O76024; P29466-3: CASP1; NbExp=3; IntAct=EBI-720609, EBI-12248206;
CC O76024; Q8N163: CCAR2; NbExp=3; IntAct=EBI-720609, EBI-355410;
CC O76024; Q6ZP82: CCDC141; NbExp=3; IntAct=EBI-720609, EBI-928795;
CC O76024; Q96LX7-5: CCDC17; NbExp=3; IntAct=EBI-720609, EBI-12165781;
CC O76024; A0A1B0GWI1: CCDC196; NbExp=3; IntAct=EBI-720609, EBI-10181422;
CC O76024; A0A0A0MR69: CCDC88C; NbExp=3; IntAct=EBI-720609, EBI-12954453;
CC O76024; Q9Y3X0: CCDC9; NbExp=3; IntAct=EBI-720609, EBI-2557532;
CC O76024; O96020: CCNE2; NbExp=3; IntAct=EBI-720609, EBI-375033;
CC O76024; P78371: CCT2; NbExp=3; IntAct=EBI-720609, EBI-357407;
CC O76024; P11912: CD79A; NbExp=3; IntAct=EBI-720609, EBI-7797864;
CC O76024; Q9BWT1: CDCA7; NbExp=3; IntAct=EBI-720609, EBI-7054803;
CC O76024; Q5VV42: CDKAL1; NbExp=3; IntAct=EBI-720609, EBI-10194801;
CC O76024; Q494V2-2: CFAP100; NbExp=3; IntAct=EBI-720609, EBI-11953200;
CC O76024; Q9NX63: CHCHD3; NbExp=3; IntAct=EBI-720609, EBI-743375;
CC O76024; O14646-2: CHD1; NbExp=3; IntAct=EBI-720609, EBI-10961487;
CC O76024; Q9Y3D0: CIAO2B; NbExp=3; IntAct=EBI-720609, EBI-744045;
CC O76024; Q99967: CITED2; NbExp=3; IntAct=EBI-720609, EBI-937732;
CC O76024; P12532: CKMT1B; NbExp=3; IntAct=EBI-720609, EBI-1050662;
CC O76024; Q9Y240: CLEC11A; NbExp=3; IntAct=EBI-720609, EBI-3957044;
CC O76024; Q9UHP7-3: CLEC2D; NbExp=3; IntAct=EBI-720609, EBI-11749983;
CC O76024; Q14677: CLINT1; NbExp=3; IntAct=EBI-720609, EBI-1171113;
CC O76024; Q96DZ5: CLIP3; NbExp=3; IntAct=EBI-720609, EBI-12823145;
CC O76024; Q16740: CLPP; NbExp=3; IntAct=EBI-720609, EBI-1056029;
CC O76024; Q9BQ75: CMSS1; NbExp=3; IntAct=EBI-720609, EBI-395649;
CC O76024; Q9BT09: CNPY3; NbExp=3; IntAct=EBI-720609, EBI-2835965;
CC O76024; Q6PJW8-3: CNST; NbExp=3; IntAct=EBI-720609, EBI-25836090;
CC O76024; O43405-2: COCH; NbExp=3; IntAct=EBI-720609, EBI-25896722;
CC O76024; P21964: COMT; NbExp=3; IntAct=EBI-720609, EBI-372265;
CC O76024; P61201: COPS2; NbExp=3; IntAct=EBI-720609, EBI-1050386;
CC O76024; Q9P021: CRIPT; NbExp=3; IntAct=EBI-720609, EBI-946968;
CC O76024; P01040: CSTA; NbExp=3; IntAct=EBI-720609, EBI-724303;
CC O76024; Q8TB03: CXorf38; NbExp=3; IntAct=EBI-720609, EBI-12024320;
CC O76024; P00167: CYB5A; NbExp=3; IntAct=EBI-720609, EBI-1047284;
CC O76024; Q7L576: CYFIP1; NbExp=3; IntAct=EBI-720609, EBI-1048143;
CC O76024; Q5D0E6-2: DALRD3; NbExp=3; IntAct=EBI-720609, EBI-9090939;
CC O76024; Q5TAQ9-2: DCAF8; NbExp=3; IntAct=EBI-720609, EBI-25842815;
CC O76024; Q9H816: DCLRE1B; NbExp=3; IntAct=EBI-720609, EBI-3508943;
CC O76024; O00148: DDX39A; NbExp=3; IntAct=EBI-720609, EBI-348253;
CC O76024; P78524: DENND2B; NbExp=3; IntAct=EBI-720609, EBI-962633;
CC O76024; Q68D51-2: DENND2C; NbExp=3; IntAct=EBI-720609, EBI-13075846;
CC O76024; Q96F81: DISP1; NbExp=3; IntAct=EBI-720609, EBI-10230179;
CC O76024; Q8NDP9: DKFZp547K2416; NbExp=3; IntAct=EBI-720609, EBI-25842538;
CC O76024; Q9P1A6-3: DLGAP2; NbExp=3; IntAct=EBI-720609, EBI-12019838;
CC O76024; Q5VZB9: DMRTA1; NbExp=3; IntAct=EBI-720609, EBI-3939812;
CC O76024; Q9NNZ3: DNAJC4; NbExp=3; IntAct=EBI-720609, EBI-4397791;
CC O76024; P49184: DNASE1L1; NbExp=3; IntAct=EBI-720609, EBI-20894690;
CC O76024; Q9Y6K1: DNMT3A; NbExp=3; IntAct=EBI-720609, EBI-923653;
CC O76024; Q7L591-3: DOK3; NbExp=3; IntAct=EBI-720609, EBI-10694655;
CC O76024; A0A024RCP2: DOM3Z; NbExp=3; IntAct=EBI-720609, EBI-25847826;
CC O76024; O14531: DPYSL4; NbExp=3; IntAct=EBI-720609, EBI-719542;
CC O76024; Q9BPU6: DPYSL5; NbExp=3; IntAct=EBI-720609, EBI-724653;
CC O76024; Q9BY84: DUSP16; NbExp=3; IntAct=EBI-720609, EBI-3443956;
CC O76024; Q92997: DVL3; NbExp=3; IntAct=EBI-720609, EBI-739789;
CC O76024; P63172: DYNLT1; NbExp=3; IntAct=EBI-720609, EBI-1176455;
CC O76024; Q9H1Z8: ECRG4; NbExp=3; IntAct=EBI-720609, EBI-12208839;
CC O76024; Q3B7T1: EDRF1; NbExp=3; IntAct=EBI-720609, EBI-2870947;
CC O76024; O00303: EIF3F; NbExp=3; IntAct=EBI-720609, EBI-711990;
CC O76024; O60841: EIF5B; NbExp=3; IntAct=EBI-720609, EBI-928530;
CC O76024; I6L9I8: EPN3; NbExp=3; IntAct=EBI-720609, EBI-12866582;
CC O76024; Q8TE68-3: EPS8L1; NbExp=3; IntAct=EBI-720609, EBI-21574901;
CC O76024; Q9H6S3: EPS8L2; NbExp=3; IntAct=EBI-720609, EBI-3940939;
CC O76024; Q2NKX8: ERCC6L; NbExp=3; IntAct=EBI-720609, EBI-1042535;
CC O76024; Q9NQ30: ESM1; NbExp=3; IntAct=EBI-720609, EBI-12260294;
CC O76024; P03372: ESR1; NbExp=3; IntAct=EBI-720609, EBI-78473;
CC O76024; Q6NXG1: ESRP1; NbExp=3; IntAct=EBI-720609, EBI-10213520;
CC O76024; Q9UI08-2: EVL; NbExp=3; IntAct=EBI-720609, EBI-6448852;
CC O76024; Q01844-4: EWSR1; NbExp=3; IntAct=EBI-720609, EBI-25896785;
CC O76024; O00471: EXOC5; NbExp=3; IntAct=EBI-720609, EBI-949824;
CC O76024; Q99504: EYA3; NbExp=3; IntAct=EBI-720609, EBI-9089567;
CC O76024; O15540: FABP7; NbExp=3; IntAct=EBI-720609, EBI-10697159;
CC O76024; Q6P587-2: FAHD1; NbExp=3; IntAct=EBI-720609, EBI-12902289;
CC O76024; Q6SJ93: FAM111B; NbExp=3; IntAct=EBI-720609, EBI-6309082;
CC O76024; Q6P1L5: FAM117B; NbExp=3; IntAct=EBI-720609, EBI-3893327;
CC O76024; Q49AJ0-4: FAM135B; NbExp=3; IntAct=EBI-720609, EBI-25835236;
CC O76024; Q96GL9: FAM163A; NbExp=3; IntAct=EBI-720609, EBI-11793142;
CC O76024; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-720609, EBI-18304435;
CC O76024; Q5TZK3: FAM74A6; NbExp=3; IntAct=EBI-720609, EBI-10247271;
CC O76024; Q5HYJ3-3: FAM76B; NbExp=3; IntAct=EBI-720609, EBI-11956087;
CC O76024; Q17RN3: FAM98C; NbExp=3; IntAct=EBI-720609, EBI-5461838;
CC O76024; Q8IZU1: FAM9A; NbExp=3; IntAct=EBI-720609, EBI-8468186;
CC O76024; O15287: FANCG; NbExp=3; IntAct=EBI-720609, EBI-81610;
CC O76024; Q8TC84: FANK1; NbExp=3; IntAct=EBI-720609, EBI-21975404;
CC O76024; Q53R41: FASTKD1; NbExp=3; IntAct=EBI-720609, EBI-3957005;
CC O76024; Q8NFZ0: FBH1; NbExp=3; IntAct=EBI-720609, EBI-724767;
CC O76024; Q9UBX5: FBLN5; NbExp=3; IntAct=EBI-720609, EBI-947897;
CC O76024; Q9UKT5: FBXO4; NbExp=3; IntAct=EBI-720609, EBI-960409;
CC O76024; Q6P3S6: FBXO42; NbExp=3; IntAct=EBI-720609, EBI-2506081;
CC O76024; Q9UHY8: FEZ2; NbExp=3; IntAct=EBI-720609, EBI-396453;
CC O76024; P15407: FOSL1; NbExp=3; IntAct=EBI-720609, EBI-744510;
CC O76024; P02792: FTL; NbExp=3; IntAct=EBI-720609, EBI-713279;
CC O76024; Q7L622: G2E3; NbExp=3; IntAct=EBI-720609, EBI-751757;
CC O76024; P35575: G6PC1; NbExp=3; IntAct=EBI-720609, EBI-3906612;
CC O76024; Q8NCL4: GALNT6; NbExp=3; IntAct=EBI-720609, EBI-3907241;
CC O76024; P15976-2: GATA1; NbExp=3; IntAct=EBI-720609, EBI-9090198;
CC O76024; P23769-2: GATA2; NbExp=3; IntAct=EBI-720609, EBI-21856389;
CC O76024; P14136: GFAP; NbExp=3; IntAct=EBI-720609, EBI-744302;
CC O76024; Q9NXC2: GFOD1; NbExp=3; IntAct=EBI-720609, EBI-8799578;
CC O76024; P10075: GLI4; NbExp=3; IntAct=EBI-720609, EBI-14061927;
CC O76024; Q9Y223-2: GNE; NbExp=3; IntAct=EBI-720609, EBI-11975289;
CC O76024; Q9HBQ8: GOLGA2P5; NbExp=3; IntAct=EBI-720609, EBI-22000587;
CC O76024; O95872: GPANK1; NbExp=3; IntAct=EBI-720609, EBI-751540;
CC O76024; Q8IYG2: GPC3; NbExp=3; IntAct=EBI-720609, EBI-25896879;
CC O76024; Q7Z602: GPR141; NbExp=3; IntAct=EBI-720609, EBI-21649723;
CC O76024; P0CG08: GPR89B; NbExp=3; IntAct=EBI-720609, EBI-11905631;
CC O76024; Q9Y4H4: GPSM3; NbExp=3; IntAct=EBI-720609, EBI-347538;
CC O76024; Q8IY40: GRIK2; NbExp=3; IntAct=EBI-720609, EBI-25832107;
CC O76024; O75409: H2AP; NbExp=3; IntAct=EBI-720609, EBI-6447217;
CC O76024; Q6NXT2: H3-5; NbExp=3; IntAct=EBI-720609, EBI-2868501;
CC O76024; P68431: H3C12; NbExp=3; IntAct=EBI-720609, EBI-79722;
CC O76024; A8K0U2: hCG_2001421; NbExp=3; IntAct=EBI-720609, EBI-25843825;
CC O76024; A0A024R1L7: hCG_41307; NbExp=3; IntAct=EBI-720609, EBI-25849938;
CC O76024; P08631-2: HCK; NbExp=3; IntAct=EBI-720609, EBI-9834454;
CC O76024; Q03014: HHEX; NbExp=3; IntAct=EBI-720609, EBI-747421;
CC O76024; P52790: HK3; NbExp=3; IntAct=EBI-720609, EBI-2965780;
CC O76024; O75330-3: HMMR; NbExp=3; IntAct=EBI-720609, EBI-12098658;
CC O76024; O14979: HNRNPDL; NbExp=3; IntAct=EBI-720609, EBI-299727;
CC O76024; Q96EW2-2: HSPBAP1; NbExp=3; IntAct=EBI-720609, EBI-25835621;
CC O76024; Q8IY31-3: IFT20; NbExp=3; IntAct=EBI-720609, EBI-9091197;
CC O76024; P22692: IGFBP4; NbExp=3; IntAct=EBI-720609, EBI-2831948;
CC O76024; Q14005-2: IL16; NbExp=3; IntAct=EBI-720609, EBI-17178971;
CC O76024; O95256: IL18RAP; NbExp=4; IntAct=EBI-720609, EBI-21018056;
CC O76024; Q96RQ9: IL4I1; NbExp=3; IntAct=EBI-720609, EBI-20831744;
CC O76024; Q9NXX0: ILF3; NbExp=3; IntAct=EBI-720609, EBI-743980;
CC O76024; Q9UNL4: ING4; NbExp=3; IntAct=EBI-720609, EBI-2866661;
CC O76024; Q8WYH8-2: ING5; NbExp=3; IntAct=EBI-720609, EBI-21602071;
CC O76024; Q8IXL9: IQCF2; NbExp=3; IntAct=EBI-720609, EBI-10238842;
CC O76024; Q8NA54: IQUB; NbExp=3; IntAct=EBI-720609, EBI-10220600;
CC O76024; Q9Y6F6-3: IRAG1; NbExp=3; IntAct=EBI-720609, EBI-25840037;
CC O76024; Q86U28: ISCA2; NbExp=3; IntAct=EBI-720609, EBI-10258659;
CC O76024; P0C870: JMJD7; NbExp=3; IntAct=EBI-720609, EBI-9090173;
CC O76024; Q9NVX7-2: KBTBD4; NbExp=3; IntAct=EBI-720609, EBI-25871195;
CC O76024; Q9Y691: KCNMB2; NbExp=3; IntAct=EBI-720609, EBI-7932244;
CC O76024; Q8WZ19: KCTD13; NbExp=3; IntAct=EBI-720609, EBI-742916;
CC O76024; Q96SI1-2: KCTD15; NbExp=3; IntAct=EBI-720609, EBI-12382297;
CC O76024; Q06136: KDSR; NbExp=3; IntAct=EBI-720609, EBI-3909166;
CC O76024; Q14145: KEAP1; NbExp=3; IntAct=EBI-720609, EBI-751001;
CC O76024; A0A384DVV8: KIAA0040; NbExp=3; IntAct=EBI-720609, EBI-20764875;
CC O76024; Q6ZU52: KIAA0408; NbExp=3; IntAct=EBI-720609, EBI-739493;
CC O76024; Q12756: KIF1A; NbExp=3; IntAct=EBI-720609, EBI-2679809;
CC O76024; Q9UIH9: KLF15; NbExp=3; IntAct=EBI-720609, EBI-2796400;
CC O76024; P57682: KLF3; NbExp=3; IntAct=EBI-720609, EBI-8472267;
CC O76024; Q9Y2M5: KLHL20; NbExp=3; IntAct=EBI-720609, EBI-714379;
CC O76024; P08727: KRT19; NbExp=3; IntAct=EBI-720609, EBI-742756;
CC O76024; Q8N1A0: KRT222; NbExp=3; IntAct=EBI-720609, EBI-8473062;
CC O76024; Q14525: KRT33B; NbExp=3; IntAct=EBI-720609, EBI-1049638;
CC O76024; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-720609, EBI-10241252;
CC O76024; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-720609, EBI-10241353;
CC O76024; Q8IUC2: KRTAP8-1; NbExp=3; IntAct=EBI-720609, EBI-10261141;
CC O76024; Q14847-2: LASP1; NbExp=3; IntAct=EBI-720609, EBI-9088686;
CC O76024; O95447: LCA5L; NbExp=3; IntAct=EBI-720609, EBI-8473670;
CC O76024; P04180: LCAT; NbExp=3; IntAct=EBI-720609, EBI-9104464;
CC O76024; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-720609, EBI-10245913;
CC O76024; Q5TA79: LCE2A; NbExp=3; IntAct=EBI-720609, EBI-10246607;
CC O76024; Q96PV6: LENG8; NbExp=3; IntAct=EBI-720609, EBI-739546;
CC O76024; O00214: LGALS8; NbExp=3; IntAct=EBI-720609, EBI-740058;
CC O76024; Q9UPM6: LHX6; NbExp=3; IntAct=EBI-720609, EBI-10258746;
CC O76024; Q68G74: LHX8; NbExp=3; IntAct=EBI-720609, EBI-8474075;
CC O76024; Q8N448: LNX2; NbExp=3; IntAct=EBI-720609, EBI-2340947;
CC O76024; A2RU56: LOC401296; NbExp=3; IntAct=EBI-720609, EBI-9088215;
CC O76024; Q96JB6: LOXL4; NbExp=3; IntAct=EBI-720609, EBI-749562;
CC O76024; Q14693: LPIN1; NbExp=3; IntAct=EBI-720609, EBI-5278370;
CC O76024; Q6Q4G3-4: LVRN; NbExp=3; IntAct=EBI-720609, EBI-25862057;
CC O76024; Q9H063: MAF1; NbExp=3; IntAct=EBI-720609, EBI-720354;
CC O76024; Q96M61: MAGEB18; NbExp=3; IntAct=EBI-720609, EBI-741835;
CC O76024; Q9UDY8-2: MALT1; NbExp=3; IntAct=EBI-720609, EBI-12056869;
CC O76024; P52564: MAP2K6; NbExp=3; IntAct=EBI-720609, EBI-448135;
CC O76024; P61244-4: MAX; NbExp=3; IntAct=EBI-720609, EBI-25848049;
CC O76024; O95243-2: MBD4; NbExp=3; IntAct=EBI-720609, EBI-6448717;
CC O76024; Q9NS73-5: MBIP; NbExp=3; IntAct=EBI-720609, EBI-10182361;
CC O76024; O15068-4: MCF2L; NbExp=3; IntAct=EBI-720609, EBI-21375623;
CC O76024; Q03112-9: MECOM; NbExp=3; IntAct=EBI-720609, EBI-23820194;
CC O76024; P51608: MECP2; NbExp=3; IntAct=EBI-720609, EBI-1189067;
CC O76024; Q15528-2: MED22; NbExp=3; IntAct=EBI-720609, EBI-12954271;
CC O76024; Q8N6F8: METTL27; NbExp=3; IntAct=EBI-720609, EBI-8487781;
CC O76024; Q9NYP9: MIS18A; NbExp=3; IntAct=EBI-720609, EBI-1104552;
CC O76024; Q15049: MLC1; NbExp=3; IntAct=EBI-720609, EBI-8475277;
CC O76024; A0A0A0MR05: MLST8; NbExp=3; IntAct=EBI-720609, EBI-25835557;
CC O76024; Q86VF5-3: MOGAT3; NbExp=3; IntAct=EBI-720609, EBI-25840143;
CC O76024; Q8N594: MPND; NbExp=3; IntAct=EBI-720609, EBI-2512452;
CC O76024; Q9Y605: MRFAP1; NbExp=3; IntAct=EBI-720609, EBI-995714;
CC O76024; Q96HT8: MRFAP1L1; NbExp=3; IntAct=EBI-720609, EBI-748896;
CC O76024; Q9Y2R5: MRPS17; NbExp=3; IntAct=EBI-720609, EBI-1046443;
CC O76024; O43196-4: MSH5; NbExp=3; IntAct=EBI-720609, EBI-25860238;
CC O76024; Q8N5Y2: MSL3; NbExp=3; IntAct=EBI-720609, EBI-2560796;
CC O76024; Q8IXL7-2: MSRB3; NbExp=3; IntAct=EBI-720609, EBI-10699187;
CC O76024; Q9H1R3: MYLK2; NbExp=3; IntAct=EBI-720609, EBI-356910;
CC O76024; Q96A32: MYLPF; NbExp=3; IntAct=EBI-720609, EBI-1390771;
CC O76024; Q9Y3Q0: NAALAD2; NbExp=3; IntAct=EBI-720609, EBI-2863682;
CC O76024; Q969V3: NCLN; NbExp=3; IntAct=EBI-720609, EBI-1056979;
CC O76024; Q99608: NDN; NbExp=3; IntAct=EBI-720609, EBI-718177;
CC O76024; Q9P032: NDUFAF4; NbExp=3; IntAct=EBI-720609, EBI-2606839;
CC O76024; P28331-5: NDUFS1; NbExp=3; IntAct=EBI-720609, EBI-25876328;
CC O76024; I6L9F6: NEFL; NbExp=3; IntAct=EBI-720609, EBI-10178578;
CC O76024; Q8N5V2: NGEF; NbExp=3; IntAct=EBI-720609, EBI-718372;
CC O76024; Q96AM0: NLRP1; NbExp=3; IntAct=EBI-720609, EBI-25860999;
CC O76024; Q6IAD4: NOTCH1; NbExp=3; IntAct=EBI-720609, EBI-25860267;
CC O76024; O15130-2: NPFF; NbExp=3; IntAct=EBI-720609, EBI-25840002;
CC O76024; Q14995: NR1D2; NbExp=3; IntAct=EBI-720609, EBI-6144053;
CC O76024; Q6X4W1-6: NSMF; NbExp=3; IntAct=EBI-720609, EBI-25842707;
CC O76024; P36639-4: NUDT1; NbExp=3; IntAct=EBI-720609, EBI-25834643;
CC O76024; Q9NZJ9: NUDT4; NbExp=3; IntAct=EBI-720609, EBI-4280066;
CC O76024; Q7Z417: NUFIP2; NbExp=3; IntAct=EBI-720609, EBI-1210753;
CC O76024; O15381-5: NVL; NbExp=3; IntAct=EBI-720609, EBI-18577082;
CC O76024; Q5BJF6-2: ODF2; NbExp=3; IntAct=EBI-720609, EBI-9090919;
CC O76024; O43482: OIP5; NbExp=3; IntAct=EBI-720609, EBI-536879;
CC O76024; Q96CV9-2: OPTN; NbExp=3; IntAct=EBI-720609, EBI-9091423;
CC O76024; Q96FW1: OTUB1; NbExp=3; IntAct=EBI-720609, EBI-1058491;
CC O76024; Q9BWI9: OTUB2; NbExp=3; IntAct=EBI-720609, EBI-10300896;
CC O76024; Q6GQQ9-2: OTUD7B; NbExp=3; IntAct=EBI-720609, EBI-25830200;
CC O76024; Q15077: P2RY6; NbExp=3; IntAct=EBI-720609, EBI-10235794;
CC O76024; Q9H361: PABPC3; NbExp=3; IntAct=EBI-720609, EBI-1055272;
CC O76024; Q9P286: PAK5; NbExp=3; IntAct=EBI-720609, EBI-741896;
CC O76024; O75781-2: PALM; NbExp=3; IntAct=EBI-720609, EBI-16399860;
CC O76024; Q9NP74: PALMD; NbExp=3; IntAct=EBI-720609, EBI-2811699;
CC O76024; Q8N3R9: PALS1; NbExp=3; IntAct=EBI-720609, EBI-2513978;
CC O76024; Q9HBE1-4: PATZ1; NbExp=3; IntAct=EBI-720609, EBI-11022007;
CC O76024; Q9Y5G3-2: PCDHGB1; NbExp=3; IntAct=EBI-720609, EBI-21584477;
CC O76024; P22061-2: PCMT1; NbExp=3; IntAct=EBI-720609, EBI-12386584;
CC O76024; Q9BRX2: PELO; NbExp=3; IntAct=EBI-720609, EBI-1043580;
CC O76024; O15534: PER1; NbExp=3; IntAct=EBI-720609, EBI-2557276;
CC O76024; Q96FX8: PERP; NbExp=3; IntAct=EBI-720609, EBI-17183069;
CC O76024; Q96LB9: PGLYRP3; NbExp=3; IntAct=EBI-720609, EBI-12339509;
CC O76024; Q7RTV0: PHF5A; NbExp=3; IntAct=EBI-720609, EBI-2555365;
CC O76024; A2BDE7: PHLDA1; NbExp=3; IntAct=EBI-720609, EBI-14084211;
CC O76024; O75925: PIAS1; NbExp=3; IntAct=EBI-720609, EBI-629434;
CC O76024; P27986-2: PIK3R1; NbExp=3; IntAct=EBI-720609, EBI-9090282;
CC O76024; Q9BZM1: PLA2G12A; NbExp=3; IntAct=EBI-720609, EBI-3916751;
CC O76024; Q9UF11-2: PLEKHB1; NbExp=3; IntAct=EBI-720609, EBI-12832742;
CC O76024; Q58EX7-2: PLEKHG4; NbExp=3; IntAct=EBI-720609, EBI-21503705;
CC O76024; Q6ZR37: PLEKHG7; NbExp=3; IntAct=EBI-720609, EBI-12891828;
CC O76024; Q99541: PLIN2; NbExp=3; IntAct=EBI-720609, EBI-2115275;
CC O76024; Q8TBJ4: PLPPR1; NbExp=3; IntAct=EBI-720609, EBI-18063495;
CC O76024; P06746: POLB; NbExp=3; IntAct=EBI-720609, EBI-713836;
CC O76024; Q9H1D9: POLR3F; NbExp=3; IntAct=EBI-720609, EBI-710067;
CC O76024; P09565: PP9974; NbExp=3; IntAct=EBI-720609, EBI-10196507;
CC O76024; Q8NI37: PPTC7; NbExp=3; IntAct=EBI-720609, EBI-9089276;
CC O76024; P54646: PRKAA2; NbExp=3; IntAct=EBI-720609, EBI-1383852;
CC O76024; P60891: PRPS1; NbExp=3; IntAct=EBI-720609, EBI-749195;
CC O76024; P11908: PRPS2; NbExp=3; IntAct=EBI-720609, EBI-4290895;
CC O76024; A0A0C4DFM3: PRUNE2; NbExp=3; IntAct=EBI-720609, EBI-25830870;
CC O76024; P25788-2: PSMA3; NbExp=3; IntAct=EBI-720609, EBI-348394;
CC O76024; P20618: PSMB1; NbExp=3; IntAct=EBI-720609, EBI-372273;
CC O76024; P28062-2: PSMB8; NbExp=3; IntAct=EBI-720609, EBI-372312;
CC O76024; P62333: PSMC6; NbExp=3; IntAct=EBI-720609, EBI-357669;
CC O76024; Q16401: PSMD5; NbExp=3; IntAct=EBI-720609, EBI-752143;
CC O76024; Q8TBK9: PTMA; NbExp=3; IntAct=EBI-720609, EBI-1056327;
CC O76024; Q14671: PUM1; NbExp=3; IntAct=EBI-720609, EBI-948453;
CC O76024; Q7Z7K5: PXN; NbExp=3; IntAct=EBI-720609, EBI-25841978;
CC O76024; P47897: QARS1; NbExp=3; IntAct=EBI-720609, EBI-347462;
CC O76024; Q15907: RAB11B; NbExp=3; IntAct=EBI-720609, EBI-722234;
CC O76024; Q9Y5P3: RAI2; NbExp=3; IntAct=EBI-720609, EBI-746228;
CC O76024; Q7Z6E9-3: RBBP6; NbExp=3; IntAct=EBI-720609, EBI-11743772;
CC O76024; Q96PK6: RBM14; NbExp=3; IntAct=EBI-720609, EBI-954272;
CC O76024; Q8NDT2-2: RBM15B; NbExp=3; IntAct=EBI-720609, EBI-10269922;
CC O76024; Q96I25: RBM17; NbExp=3; IntAct=EBI-720609, EBI-740272;
CC O76024; Q9P2K3-2: RCOR3; NbExp=3; IntAct=EBI-720609, EBI-1504830;
CC O76024; Q6NTF9-3: RHBDD2; NbExp=3; IntAct=EBI-720609, EBI-17589229;
CC O76024; Q8TCX5: RHPN1; NbExp=3; IntAct=EBI-720609, EBI-746325;
CC O76024; Q9H871: RMND5A; NbExp=3; IntAct=EBI-720609, EBI-2797992;
CC O76024; Q8N5U6: RNF10; NbExp=3; IntAct=EBI-720609, EBI-714023;
CC O76024; Q9NTX7-2: RNF146; NbExp=3; IntAct=EBI-720609, EBI-11750630;
CC O76024; Q8IYW5: RNF168; NbExp=3; IntAct=EBI-720609, EBI-914207;
CC O76024; Q96D59: RNF183; NbExp=3; IntAct=EBI-720609, EBI-743938;
CC O76024; Q9H0X6: RNF208; NbExp=3; IntAct=EBI-720609, EBI-751555;
CC O76024; Q9H0F5-2: RNF38; NbExp=3; IntAct=EBI-720609, EBI-25866807;
CC O76024; P13489: RNH1; NbExp=3; IntAct=EBI-720609, EBI-1237106;
CC O76024; P39023: RPL3; NbExp=3; IntAct=EBI-720609, EBI-1056348;
CC O76024; P62244: RPS15A; NbExp=3; IntAct=EBI-720609, EBI-347895;
CC O76024; P62979: RPS27A; NbExp=3; IntAct=EBI-720609, EBI-357375;
CC O76024; P08865: RPSA; NbExp=3; IntAct=EBI-720609, EBI-354112;
CC O76024; Q66K80: RUSC1-AS1; NbExp=3; IntAct=EBI-720609, EBI-10248967;
CC O76024; Q96GQ5: RUSF1; NbExp=3; IntAct=EBI-720609, EBI-8636004;
CC O76024; Q9Y2B1: RXYLT1; NbExp=3; IntAct=EBI-720609, EBI-3914763;
CC O76024; P25815: S100P; NbExp=3; IntAct=EBI-720609, EBI-743700;
CC O76024; Q8N6K7-2: SAMD3; NbExp=3; IntAct=EBI-720609, EBI-11528848;
CC O76024; Q7Z3H4: SAMD7; NbExp=3; IntAct=EBI-720609, EBI-12148649;
CC O76024; P82979: SARNP; NbExp=3; IntAct=EBI-720609, EBI-347495;
CC O76024; Q969E2: SCAMP4; NbExp=3; IntAct=EBI-720609, EBI-4403649;
CC O76024; P34741: SDC2; NbExp=3; IntAct=EBI-720609, EBI-1172957;
CC O76024; O00560: SDCBP; NbExp=3; IntAct=EBI-720609, EBI-727004;
CC O76024; P16581: SELE; NbExp=3; IntAct=EBI-720609, EBI-8007671;
CC O76024; Q9C0C4: SEMA4C; NbExp=3; IntAct=EBI-720609, EBI-10303490;
CC O76024; Q9NTN9-3: SEMA4G; NbExp=3; IntAct=EBI-720609, EBI-9089805;
CC O76024; Q9H4L4: SENP3; NbExp=3; IntAct=EBI-720609, EBI-2880236;
CC O76024; Q14141: SEPTIN6; NbExp=3; IntAct=EBI-720609, EBI-745901;
CC O76024; Q13530: SERINC3; NbExp=3; IntAct=EBI-720609, EBI-1045571;
CC O76024; O14796-2: SH2D1B; NbExp=3; IntAct=EBI-720609, EBI-25899828;
CC O76024; Q96B97: SH3KBP1; NbExp=3; IntAct=EBI-720609, EBI-346595;
CC O76024; Q9NUL5-3: SHFL; NbExp=3; IntAct=EBI-720609, EBI-22000547;
CC O76024; Q8IYI0: SHLD1; NbExp=3; IntAct=EBI-720609, EBI-2560428;
CC O76024; O60902-3: SHOX2; NbExp=3; IntAct=EBI-720609, EBI-9092164;
CC O76024; Q8N1H7: SIX6OS1; NbExp=3; IntAct=EBI-720609, EBI-12182077;
CC O76024; P12757: SKIL; NbExp=3; IntAct=EBI-720609, EBI-2902468;
CC O76024; Q13183: SLC13A2; NbExp=3; IntAct=EBI-720609, EBI-17460043;
CC O76024; O15403: SLC16A6; NbExp=3; IntAct=EBI-720609, EBI-11041701;
CC O76024; P08195-4: SLC3A2; NbExp=3; IntAct=EBI-720609, EBI-12832276;
CC O76024; Q86UG4-2: SLCO6A1; NbExp=3; IntAct=EBI-720609, EBI-21657139;
CC O76024; O94933: SLITRK3; NbExp=3; IntAct=EBI-720609, EBI-20855537;
CC O76024; P53814-5: SMTN; NbExp=3; IntAct=EBI-720609, EBI-11100581;
CC O76024; Q2TAY7: SMU1; NbExp=3; IntAct=EBI-720609, EBI-298027;
CC O76024; Q9HCE7-2: SMURF1; NbExp=3; IntAct=EBI-720609, EBI-9845742;
CC O76024; Q92966: SNAPC3; NbExp=3; IntAct=EBI-720609, EBI-1760638;
CC O76024; Q99932-2: SPAG8; NbExp=3; IntAct=EBI-720609, EBI-11959123;
CC O76024; A0A024R4B0: SPATA3; NbExp=3; IntAct=EBI-720609, EBI-14123856;
CC O76024; Q6RVD6: SPATA8; NbExp=3; IntAct=EBI-720609, EBI-8635958;
CC O76024; P20155: SPINK2; NbExp=3; IntAct=EBI-720609, EBI-10200479;
CC O76024; Q8TCT8: SPPL2A; NbExp=3; IntAct=EBI-720609, EBI-750784;
CC O76024; Q7Z698: SPRED2; NbExp=3; IntAct=EBI-720609, EBI-7082156;
CC O76024; Q9C004: SPRY4; NbExp=3; IntAct=EBI-720609, EBI-354861;
CC O76024; Q8NEQ6: SRARP; NbExp=3; IntAct=EBI-720609, EBI-17858294;
CC O76024; Q8IXS7: SRGAP3; NbExp=3; IntAct=EBI-720609, EBI-18616594;
CC O76024; O75886: STAM2; NbExp=3; IntAct=EBI-720609, EBI-373258;
CC O76024; Q9UJZ1: STOML2; NbExp=3; IntAct=EBI-720609, EBI-1044428;
CC O76024; A1L378: STRC; NbExp=3; IntAct=EBI-720609, EBI-22013242;
CC O76024; P46977: STT3A; NbExp=3; IntAct=EBI-720609, EBI-719212;
CC O76024; Q9UNE7: STUB1; NbExp=3; IntAct=EBI-720609, EBI-357085;
CC O76024; Q08AL9: STXBP4; NbExp=3; IntAct=EBI-720609, EBI-10318905;
CC O76024; Q8NBJ7: SUMF2; NbExp=3; IntAct=EBI-720609, EBI-723091;
CC O76024; A1L190: SYCE3; NbExp=3; IntAct=EBI-720609, EBI-10283466;
CC O76024; Q9H7C4: SYNC; NbExp=3; IntAct=EBI-720609, EBI-11285923;
CC O76024; Q17RD7-3: SYT16; NbExp=3; IntAct=EBI-720609, EBI-25861603;
CC O76024; Q9BQG1: SYT3; NbExp=3; IntAct=EBI-720609, EBI-17284568;
CC O76024; Q8TDW5-2: SYTL5; NbExp=3; IntAct=EBI-720609, EBI-12243980;
CC O76024; Q86TJ2-3: TADA2B; NbExp=3; IntAct=EBI-720609, EBI-18173581;
CC O76024; Q8WUA7-2: TBC1D22A; NbExp=3; IntAct=EBI-720609, EBI-21575846;
CC O76024; P62380: TBPL1; NbExp=3; IntAct=EBI-720609, EBI-716225;
CC O76024; Q96EI5: TCEAL4; NbExp=3; IntAct=EBI-720609, EBI-2511291;
CC O76024; Q8IYN2: TCEAL8; NbExp=3; IntAct=EBI-720609, EBI-2116184;
CC O76024; Q9BQ70: TCF25; NbExp=3; IntAct=EBI-720609, EBI-745182;
CC O76024; Q8TDR4: TCP10L; NbExp=3; IntAct=EBI-720609, EBI-3923210;
CC O76024; Q13569: TDG; NbExp=3; IntAct=EBI-720609, EBI-348333;
CC O76024; P28347-2: TEAD1; NbExp=3; IntAct=EBI-720609, EBI-12151837;
CC O76024; Q96A09: TENT5B; NbExp=3; IntAct=EBI-720609, EBI-752030;
CC O76024; P54274: TERF1; NbExp=2; IntAct=EBI-720609, EBI-710997;
CC O76024; Q8NA77: TEX19; NbExp=3; IntAct=EBI-720609, EBI-13323487;
CC O76024; P21980-2: TGM2; NbExp=3; IntAct=EBI-720609, EBI-25842075;
CC O76024; Q9BQ29: THAP4; NbExp=3; IntAct=EBI-720609, EBI-22013570;
CC O76024; Q9BTF0: THUMPD2; NbExp=3; IntAct=EBI-720609, EBI-15105991;
CC O76024; O60830: TIMM17B; NbExp=3; IntAct=EBI-720609, EBI-2372529;
CC O76024; O60220: TIMM8A; NbExp=3; IntAct=EBI-720609, EBI-1049822;
CC O76024; Q9BXR5: TLR10; NbExp=3; IntAct=EBI-720609, EBI-16825459;
CC O76024; A0AVI4-2: TMEM129; NbExp=3; IntAct=EBI-720609, EBI-25871541;
CC O76024; Q8N0U2: TMEM61; NbExp=3; IntAct=EBI-720609, EBI-25830583;
CC O76024; Q53NU3: tmp_locus_54; NbExp=3; IntAct=EBI-720609, EBI-10242677;
CC O76024; Q8IUR5-4: TMTC1; NbExp=3; IntAct=EBI-720609, EBI-9089156;
CC O76024; Q71RG4-4: TMUB2; NbExp=3; IntAct=EBI-720609, EBI-25831574;
CC O76024; P19429: TNNI3; NbExp=3; IntAct=EBI-720609, EBI-704146;
CC O76024; P36406: TRIM23; NbExp=3; IntAct=EBI-720609, EBI-740098;
CC O76024; Q9UPQ4-2: TRIM35; NbExp=3; IntAct=EBI-720609, EBI-17716262;
CC O76024; Q9BVS5: TRMT61B; NbExp=3; IntAct=EBI-720609, EBI-3197877;
CC O76024; Q96Q11-3: TRNT1; NbExp=3; IntAct=EBI-720609, EBI-25861172;
CC O76024; Q86WV8: TSC1; NbExp=3; IntAct=EBI-720609, EBI-12806590;
CC O76024; Q9Y3Q8: TSC22D4; NbExp=3; IntAct=EBI-720609, EBI-739485;
CC O76024; A0A024RCB9: TSSC4; NbExp=3; IntAct=EBI-720609, EBI-25860845;
CC O76024; Q99614: TTC1; NbExp=3; IntAct=EBI-720609, EBI-742074;
CC O76024; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-720609, EBI-9090990;
CC O76024; Q9BUF5: TUBB6; NbExp=3; IntAct=EBI-720609, EBI-356735;
CC O76024; Q9UGJ1-2: TUBGCP4; NbExp=3; IntAct=EBI-720609, EBI-10964469;
CC O76024; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-720609, EBI-11988865;
CC O76024; Q5VYS8-5: TUT7; NbExp=3; IntAct=EBI-720609, EBI-9088812;
CC O76024; Q9BSL1: UBAC1; NbExp=3; IntAct=EBI-720609, EBI-749370;
CC O76024; Q8NBM4-4: UBAC2; NbExp=3; IntAct=EBI-720609, EBI-25840976;
CC O76024; Q969T4: UBE2E3; NbExp=3; IntAct=EBI-720609, EBI-348496;
CC O76024; Q8N2K1: UBE2J2; NbExp=3; IntAct=EBI-720609, EBI-2340110;
CC O76024; P61086: UBE2K; NbExp=3; IntAct=EBI-720609, EBI-473850;
CC O76024; Q04323-2: UBXN1; NbExp=3; IntAct=EBI-720609, EBI-11530712;
CC O76024; O75604-3: USP2; NbExp=3; IntAct=EBI-720609, EBI-10696113;
CC O76024; Q96B65: USP25; NbExp=3; IntAct=EBI-720609, EBI-25876491;
CC O76024; A2RRA6: USP35; NbExp=3; IntAct=EBI-720609, EBI-22013216;
CC O76024; P45880: VDAC2; NbExp=3; IntAct=EBI-720609, EBI-354022;
CC O76024; Q8NEZ2: VPS37A; NbExp=3; IntAct=EBI-720609, EBI-2850578;
CC O76024; P58304: VSX2; NbExp=3; IntAct=EBI-720609, EBI-6427899;
CC O76024; Q9BQA1: WDR77; NbExp=3; IntAct=EBI-720609, EBI-1237307;
CC O76024; Q9BRX9: WDR83; NbExp=3; IntAct=EBI-720609, EBI-7705033;
CC O76024; Q15007-2: WTAP; NbExp=3; IntAct=EBI-720609, EBI-25840023;
CC O76024; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-720609, EBI-12040603;
CC O76024; O00308: WWP2; NbExp=6; IntAct=EBI-720609, EBI-743923;
CC O76024; P12956: XRCC6; NbExp=3; IntAct=EBI-720609, EBI-353208;
CC O76024; O95070: YIF1A; NbExp=3; IntAct=EBI-720609, EBI-2799703;
CC O76024; P25490: YY1; NbExp=3; IntAct=EBI-720609, EBI-765538;
CC O76024; O43167-2: ZBTB24; NbExp=3; IntAct=EBI-720609, EBI-25842419;
CC O76024; Q53FD0-2: ZC2HC1C; NbExp=3; IntAct=EBI-720609, EBI-14104088;
CC O76024; Q8TBF4: ZCRB1; NbExp=3; IntAct=EBI-720609, EBI-11124401;
CC O76024; Q8IUH5: ZDHHC17; NbExp=3; IntAct=EBI-720609, EBI-524753;
CC O76024; Q5W0Z9-4: ZDHHC20; NbExp=3; IntAct=EBI-720609, EBI-25840130;
CC O76024; Q9NTW7: ZFP64; NbExp=3; IntAct=EBI-720609, EBI-711679;
CC O76024; Q15776: ZKSCAN8; NbExp=3; IntAct=EBI-720609, EBI-2602314;
CC O76024; Q15973: ZNF124; NbExp=3; IntAct=EBI-720609, EBI-2555767;
CC O76024; P52744: ZNF138; NbExp=3; IntAct=EBI-720609, EBI-10746567;
CC O76024; Q9UJW8-4: ZNF180; NbExp=3; IntAct=EBI-720609, EBI-12055755;
CC O76024; Q9UK10: ZNF225; NbExp=3; IntAct=EBI-720609, EBI-21856539;
CC O76024; Q16600: ZNF239; NbExp=3; IntAct=EBI-720609, EBI-8787052;
CC O76024; Q9NR11-2: ZNF302; NbExp=3; IntAct=EBI-720609, EBI-12988373;
CC O76024; Q8N895: ZNF366; NbExp=3; IntAct=EBI-720609, EBI-2813661;
CC O76024; Q9C0F3: ZNF436; NbExp=3; IntAct=EBI-720609, EBI-8489702;
CC O76024; Q8IYI8: ZNF440; NbExp=3; IntAct=EBI-720609, EBI-726439;
CC O76024; Q8N0Y2-2: ZNF444; NbExp=3; IntAct=EBI-720609, EBI-12010736;
CC O76024; Q96MN9-2: ZNF488; NbExp=3; IntAct=EBI-720609, EBI-25831733;
CC O76024; Q6ZNH5: ZNF497; NbExp=3; IntAct=EBI-720609, EBI-10486136;
CC O76024; Q96C55: ZNF524; NbExp=3; IntAct=EBI-720609, EBI-10283126;
CC O76024; Q68EA5: ZNF57; NbExp=3; IntAct=EBI-720609, EBI-8490788;
CC O76024; Q7Z3I7: ZNF572; NbExp=3; IntAct=EBI-720609, EBI-10172590;
CC O76024; Q96I27-2: ZNF625; NbExp=3; IntAct=EBI-720609, EBI-12038525;
CC O76024; Q96N77-2: ZNF641; NbExp=3; IntAct=EBI-720609, EBI-12939666;
CC O76024; Q9BS34: ZNF670; NbExp=3; IntAct=EBI-720609, EBI-745276;
CC O76024; Q9H7X3: ZNF696; NbExp=3; IntAct=EBI-720609, EBI-11090299;
CC O76024; Q5TEC3: ZNF697; NbExp=3; IntAct=EBI-720609, EBI-25845217;
CC O76024; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-720609, EBI-10251462;
CC O76024; Q3KP31: ZNF791; NbExp=3; IntAct=EBI-720609, EBI-2849119;
CC O76024; Q3KNS6-3: ZNF829; NbExp=3; IntAct=EBI-720609, EBI-18036029;
CC O76024; Q16670: ZSCAN26; NbExp=3; IntAct=EBI-720609, EBI-3920053;
CC O76024; O15535: ZSCAN9; NbExp=3; IntAct=EBI-720609, EBI-751531;
CC O76024; Q2QGD7: ZXDC; NbExp=3; IntAct=EBI-720609, EBI-1538838;
CC O76024; A0A384ME25; NbExp=3; IntAct=EBI-720609, EBI-10211777;
CC O76024; Q7L8T7; NbExp=3; IntAct=EBI-720609, EBI-25831943;
CC O76024; Q7Z783; NbExp=3; IntAct=EBI-720609, EBI-9088990;
CC O76024; Q86V28; NbExp=3; IntAct=EBI-720609, EBI-10259496;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000305|PubMed:23035048}; Multi-pass membrane protein
CC {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle
CC {ECO:0000269|PubMed:23035048}. Note=Co-localizes with ATP6V1A in the
CC secretory granules in neuroblastoma cell lines.
CC {ECO:0000269|PubMed:23035048}.
CC -!- TISSUE SPECIFICITY: Highly expressed in heart followed by brain,
CC placenta, lung and pancreas. Weakly expressed in liver, kidney and
CC skeletal muscle. Also expressed in islet and beta-cell insulinoma cell
CC line.
CC -!- POLYMORPHISM: Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms
CC are in tight linkage disequilibrium with one another and associated
CC with type 1 diabetes in Japanese.
CC -!- DISEASE: Wolfram syndrome 1 (WFS1) [MIM:222300]: A rare disorder
CC characterized by juvenile-onset insulin-dependent diabetes mellitus
CC with optic atrophy. Other manifestations include diabetes insipidus,
CC sensorineural deafness, dementia, psychiatric illnesses.
CC {ECO:0000269|PubMed:10521293, ECO:0000269|PubMed:11161832,
CC ECO:0000269|PubMed:11295831, ECO:0000269|PubMed:15605410,
CC ECO:0000269|PubMed:21538838, ECO:0000269|PubMed:22226368,
CC ECO:0000269|PubMed:9771706, ECO:0000269|PubMed:9817917}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]: A form
CC of non-syndromic sensorineural hearing loss. Sensorineural deafness
CC results from damage to the neural receptors of the inner ear, the nerve
CC pathways to the brain, or the area of the brain that receives sound
CC information. DFNA6 is a low-frequency hearing loss in which frequencies
CC of 2000 Hz and below are predominantly affected. Many patients have
CC tinnitus, but there are otherwise no associated features such as
CC vertigo. Because high-frequency hearing is generally preserved,
CC patients retain excellent understanding of speech, although presbycusis
CC or noise exposure may cause high-frequency loss later in life. DFNA6
CC worsens over time without progressing to profound deafness.
CC {ECO:0000269|PubMed:11709537, ECO:0000269|PubMed:11709538,
CC ECO:0000269|PubMed:12181639, ECO:0000269|PubMed:17517145,
CC ECO:0000269|PubMed:18518985, ECO:0000269|PubMed:18688868,
CC ECO:0000269|PubMed:21356526, ECO:0000269|PubMed:24462758,
CC ECO:0000269|PubMed:25388789}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]:
CC A disease characterized by the clinical triad of congenital progressive
CC hearing impairment, diabetes mellitus, and optic atrophy. The hearing
CC impairment, which is usually diagnosed in the first decade of life, is
CC relatively constant and alters mainly low- and middle-frequency ranges.
CC {ECO:0000269|PubMed:16648378, ECO:0000269|PubMed:20069065,
CC ECO:0000269|PubMed:21538838}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Cataract 41 (CTRCT41) [MIM:116400]: An opacification of the
CC crystalline lens of the eye that frequently results in visual
CC impairment or blindness. Opacities vary in morphology, are often
CC confined to a portion of the lens, and may be static or progressive.
CC {ECO:0000269|PubMed:23531866}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; Y18064; CAA77022.1; -; mRNA.
DR EMBL; AF084481; AAC64943.1; -; mRNA.
DR EMBL; AK312897; BAG35744.1; -; mRNA.
DR EMBL; AC116317; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471131; EAW82396.1; -; Genomic_DNA.
DR EMBL; CH471131; EAW82397.1; -; Genomic_DNA.
DR EMBL; CH471131; EAW82398.1; -; Genomic_DNA.
DR EMBL; BC030130; AAH30130.1; -; mRNA.
DR CCDS; CCDS3386.1; -.
DR RefSeq; NP_001139325.1; NM_001145853.1.
DR RefSeq; NP_005996.2; NM_006005.3.
DR AlphaFoldDB; O76024; -.
DR SMR; O76024; -.
DR BioGRID; 113304; 116.
DR ELM; O76024; -.
DR IntAct; O76024; 481.
DR MINT; O76024; -.
DR STRING; 9606.ENSP00000226760; -.
DR TCDB; 8.A.57.1.1; the wolfram syndrome or wolframin (wolframin) family.
DR GlyConnect; 1903; 4 N-Linked glycans (2 sites).
DR GlyGen; O76024; 2 sites, 4 N-linked glycans (2 sites).
DR iPTMnet; O76024; -.
DR PhosphoSitePlus; O76024; -.
DR SwissPalm; O76024; -.
DR BioMuta; WFS1; -.
DR EPD; O76024; -.
DR jPOST; O76024; -.
DR MassIVE; O76024; -.
DR MaxQB; O76024; -.
DR PaxDb; O76024; -.
DR PeptideAtlas; O76024; -.
DR PRIDE; O76024; -.
DR ProteomicsDB; 50349; -.
DR Antibodypedia; 22653; 176 antibodies from 27 providers.
DR DNASU; 7466; -.
DR Ensembl; ENST00000226760.5; ENSP00000226760.1; ENSG00000109501.15.
DR Ensembl; ENST00000503569.5; ENSP00000423337.1; ENSG00000109501.15.
DR Ensembl; ENST00000684087.1; ENSP00000506978.1; ENSG00000109501.15.
DR GeneID; 7466; -.
DR KEGG; hsa:7466; -.
DR MANE-Select; ENST00000226760.5; ENSP00000226760.1; NM_006005.3; NP_005996.2.
DR UCSC; uc003gix.3; human.
DR CTD; 7466; -.
DR DisGeNET; 7466; -.
DR GeneCards; WFS1; -.
DR GeneReviews; WFS1; -.
DR HGNC; HGNC:12762; WFS1.
DR HPA; ENSG00000109501; Low tissue specificity.
DR MalaCards; WFS1; -.
DR MIM; 116400; phenotype.
DR MIM; 222300; phenotype.
DR MIM; 600965; phenotype.
DR MIM; 606201; gene.
DR MIM; 614296; phenotype.
DR neXtProt; NX_O76024; -.
DR OpenTargets; ENSG00000109501; -.
DR Orphanet; 90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA.
DR Orphanet; 98991; Early-onset nuclear cataract.
DR Orphanet; 3463; Wolfram syndrome.
DR Orphanet; 411590; Wolfram-like syndrome.
DR PharmGKB; PA37365; -.
DR VEuPathDB; HostDB:ENSG00000109501; -.
DR eggNOG; ENOG502QSC1; Eukaryota.
DR GeneTree; ENSGT00390000016928; -.
DR HOGENOM; CLU_014606_0_0_1; -.
DR InParanoid; O76024; -.
DR OMA; CHMKMFD; -.
DR OrthoDB; 962936at2759; -.
DR PhylomeDB; O76024; -.
DR TreeFam; TF326849; -.
DR PathwayCommons; O76024; -.
DR Reactome; R-HSA-381038; XBP1(S) activates chaperone genes.
DR Reactome; R-HSA-381426; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs).
DR Reactome; R-HSA-8957275; Post-translational protein phosphorylation.
DR SignaLink; O76024; -.
DR SIGNOR; O76024; -.
DR BioGRID-ORCS; 7466; 7 hits in 1072 CRISPR screens.
DR ChiTaRS; WFS1; human.
DR GeneWiki; WFS1; -.
DR GenomeRNAi; 7466; -.
DR Pharos; O76024; Tbio.
DR PRO; PR:O76024; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; O76024; protein.
DR Bgee; ENSG00000109501; Expressed in right ovary and 189 other tissues.
DR ExpressionAtlas; O76024; baseline and differential.
DR Genevisible; O76024; HS.
DR GO; GO:0030425; C:dendrite; ISS:BHF-UCL.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
DR GO; GO:0030176; C:integral component of endoplasmic reticulum membrane; IDA:BHF-UCL.
DR GO; GO:0030285; C:integral component of synaptic vesicle membrane; IEA:Ensembl.
DR GO; GO:0030141; C:secretory granule; IDA:UniProtKB.
DR GO; GO:0051117; F:ATPase binding; IPI:BHF-UCL.
DR GO; GO:0048306; F:calcium-dependent protein binding; IEA:Ensembl.
DR GO; GO:0005516; F:calmodulin binding; IEA:Ensembl.
DR GO; GO:0140297; F:DNA-binding transcription factor binding; IEA:Ensembl.
DR GO; GO:0070628; F:proteasome binding; IEA:Ensembl.
DR GO; GO:0031625; F:ubiquitin protein ligase binding; IDA:ParkinsonsUK-UCL.
DR GO; GO:0055074; P:calcium ion homeostasis; IDA:BHF-UCL.
DR GO; GO:0032469; P:endoplasmic reticulum calcium ion homeostasis; IDA:BHF-UCL.
DR GO; GO:0030968; P:endoplasmic reticulum unfolded protein response; IBA:GO_Central.
DR GO; GO:0006983; P:ER overload response; TAS:BHF-UCL.
DR GO; GO:0042593; P:glucose homeostasis; IMP:BHF-UCL.
DR GO; GO:0001822; P:kidney development; IMP:BHF-UCL.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IMP:UniProtKB.
DR GO; GO:1903892; P:negative regulation of ATF6-mediated unfolded protein response; IDA:ParkinsonsUK-UCL.
DR GO; GO:0043433; P:negative regulation of DNA-binding transcription factor activity; IDA:ParkinsonsUK-UCL.
DR GO; GO:1902236; P:negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway; IEA:Ensembl.
DR GO; GO:0043524; P:negative regulation of neuron apoptotic process; IMP:BHF-UCL.
DR GO; GO:0043069; P:negative regulation of programmed cell death; IMP:BHF-UCL.
DR GO; GO:1903573; P:negative regulation of response to endoplasmic reticulum stress; IMP:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:ParkinsonsUK-UCL.
DR GO; GO:2000675; P:negative regulation of type B pancreatic cell apoptotic process; IMP:BHF-UCL.
DR GO; GO:0050877; P:nervous system process; IMP:BHF-UCL.
DR GO; GO:0042048; P:olfactory behavior; IEA:Ensembl.
DR GO; GO:0031016; P:pancreas development; IEA:Ensembl.
DR GO; GO:0051928; P:positive regulation of calcium ion transport; IDA:BHF-UCL.
DR GO; GO:0045927; P:positive regulation of growth; ISS:BHF-UCL.
DR GO; GO:0051247; P:positive regulation of protein metabolic process; IDA:BHF-UCL.
DR GO; GO:0031398; P:positive regulation of protein ubiquitination; IDA:ParkinsonsUK-UCL.
DR GO; GO:0022417; P:protein maturation by protein folding; IC:BHF-UCL.
DR GO; GO:0050821; P:protein stabilization; IDA:ParkinsonsUK-UCL.
DR GO; GO:0003091; P:renal water homeostasis; IMP:BHF-UCL.
DR GO; GO:0034976; P:response to endoplasmic reticulum stress; IDA:BHF-UCL.
DR GO; GO:0007605; P:sensory perception of sound; IMP:BHF-UCL.
DR GO; GO:0030433; P:ubiquitin-dependent ERAD pathway; IDA:ParkinsonsUK-UCL.
DR GO; GO:0007601; P:visual perception; IMP:BHF-UCL.
DR Gene3D; 1.25.40.10; -; 1.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR026208; Wolframin.
DR InterPro; IPR045400; Wolframin_Cys-rich.
DR InterPro; IPR045460; Wolframin_EF-hand.
DR InterPro; IPR026209; Wolframin_fam.
DR InterPro; IPR045461; Wolframin_OB_fold.
DR InterPro; IPR045458; Wolframin_Sel1-like_rpt.
DR PANTHER; PTHR13098; PTHR13098; 1.
DR Pfam; PF20053; WC-rich; 1.
DR Pfam; PF19913; WCOB; 1.
DR Pfam; PF19914; WEF-hand; 1.
DR Pfam; PF20023; WSLR; 2.
DR PRINTS; PR02060; WOLFFAMILY.
DR PRINTS; PR02061; WOLFRAMIN.
PE 1: Evidence at protein level;
KW Acetylation; Cataract; Cytoplasmic vesicle; Deafness; Diabetes insipidus;
KW Diabetes mellitus; Disease variant; Endoplasmic reticulum; Glycoprotein;
KW Membrane; Non-syndromic deafness; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..890
FT /note="Wolframin"
FT /id="PRO_0000065963"
FT TRANSMEM 314..334
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 340..360
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 402..422
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 427..447
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 465..485
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 496..516
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 529..549
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 563..583
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 589..609
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 632..652
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 653..869
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 870..890
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..321
FT /note="Interaction with ATP6V1A"
FT /evidence="ECO:0000269|PubMed:23035048"
FT REGION 1..86
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT MOD_RES 30
FT /note="Phosphothreonine; by FAM20C"
FT /evidence="ECO:0000269|PubMed:26091039"
FT MOD_RES 32
FT /note="Phosphoserine; by FAM20C"
FT /evidence="ECO:0000269|PubMed:26091039,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 157
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P56695"
FT CARBOHYD 661
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000305"
FT CARBOHYD 746
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000305"
FT VARIANT 16
FT /note="P -> L (in dbSNP:rs34653805)"
FT /id="VAR_032791"
FT VARIANT 58
FT /note="A -> V (in WFS1; dbSNP:rs369671890)"
FT /evidence="ECO:0000269|PubMed:11161832"
FT /id="VAR_011305"
FT VARIANT 107
FT /note="G -> R"
FT /evidence="ECO:0000269|PubMed:11709538"
FT /id="VAR_032962"
FT VARIANT 110
FT /note="Y -> N (in WFS1)"
FT /evidence="ECO:0000269|PubMed:15605410"
FT /id="VAR_029499"
FT VARIANT 126
FT /note="A -> T (in WFS1; dbSNP:rs145639028)"
FT /evidence="ECO:0000269|PubMed:11161832"
FT /id="VAR_011306"
FT VARIANT 133
FT /note="A -> T (in WFS1; dbSNP:rs372249044)"
FT /evidence="ECO:0000269|PubMed:15605410"
FT /id="VAR_014034"
FT VARIANT 169
FT /note="E -> K (in WFS1; dbSNP:rs148953711)"
FT /id="VAR_009109"
FT VARIANT 171
FT /note="D -> N (in DFNA6; dbSNP:rs758281375)"
FT /evidence="ECO:0000269|PubMed:24462758"
FT /id="VAR_074210"
FT VARIANT 193
FT /note="K -> Q (in dbSNP:rs41264699)"
FT /id="VAR_014995"
FT VARIANT 292
FT /note="P -> S (in WFS1; dbSNP:rs746923441)"
FT /id="VAR_009110"
FT VARIANT 296
FT /note="I -> S (in WFS1)"
FT /id="VAR_009111"
FT VARIANT 326
FT /note="A -> V (in dbSNP:rs369795224)"
FT /evidence="ECO:0000269|PubMed:15605410"
FT /id="VAR_029500"
FT VARIANT 333
FT /note="V -> I (in dbSNP:rs1801212)"
FT /evidence="ECO:0000269|PubMed:10521293,
FT ECO:0000269|PubMed:11295831, ECO:0000269|PubMed:11709537,
FT ECO:0000269|PubMed:11709538, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15605410, ECO:0000269|PubMed:18688868,
FT ECO:0000269|PubMed:9771706, ECO:0000269|PubMed:9817917"
FT /id="VAR_005840"
FT VARIANT 350
FT /note="Missing (in WFS1)"
FT /evidence="ECO:0000269|PubMed:11161832"
FT /id="VAR_011307"
FT VARIANT 354
FT /note="Missing (in WFS1)"
FT /evidence="ECO:0000269|PubMed:11161832"
FT /id="VAR_009112"
FT VARIANT 414
FT /note="Missing (in WFS1)"
FT /evidence="ECO:0000269|PubMed:15605410"
FT /id="VAR_029501"
FT VARIANT 415
FT /note="Missing (in WFS1; greatly reduces protein expression
FT compared to wild-type)"
FT /evidence="ECO:0000269|PubMed:15605410,
FT ECO:0000269|PubMed:21538838"
FT /id="VAR_009113"
FT VARIANT 437
FT /note="G -> R (in WFS1; dbSNP:rs147974629)"
FT /id="VAR_009114"
FT VARIANT 443
FT /note="S -> I (in WFS1)"
FT /evidence="ECO:0000269|PubMed:11295831"
FT /id="VAR_011308"
FT VARIANT 456
FT /note="R -> H (in dbSNP:rs1801208)"
FT /evidence="ECO:0000269|PubMed:10679252,
FT ECO:0000269|PubMed:10760554, ECO:0000269|PubMed:15605410,
FT ECO:0000269|PubMed:9771706"
FT /id="VAR_005841"
FT VARIANT 457
FT /note="R -> S (in WFS1; dbSNP:rs113446173)"
FT /evidence="ECO:0000269|PubMed:15605410"
FT /id="VAR_029502"
FT VARIANT 461..463
FT /note="Missing (in WFS1)"
FT /evidence="ECO:0000269|PubMed:9817917"
FT /id="VAR_014035"
FT VARIANT 462
FT /note="E -> G (in CTRCT41; dbSNP:rs398123066)"
FT /evidence="ECO:0000269|PubMed:23531866"
FT /id="VAR_070935"
FT VARIANT 468
FT /note="Missing (in WFS1)"
FT /evidence="ECO:0000269|PubMed:15605410"
FT /id="VAR_029503"
FT VARIANT 504
FT /note="P -> L (in WFS1; dbSNP:rs28937892)"
FT /evidence="ECO:0000269|PubMed:11161832,
FT ECO:0000269|PubMed:15605410, ECO:0000269|PubMed:9771706"
FT /id="VAR_005842"
FT VARIANT 508..512
FT /note="Missing (in WFS1)"
FT /evidence="ECO:0000269|PubMed:9771706"
FT /id="VAR_014036"
FT VARIANT 540
FT /note="Missing (in WFS1)"
FT /evidence="ECO:0000269|PubMed:15605410"
FT /id="VAR_029504"
FT VARIANT 558
FT /note="R -> C (in WFS1; dbSNP:rs199946797)"
FT /evidence="ECO:0000269|PubMed:22226368"
FT /id="VAR_068343"
FT VARIANT 559
FT /note="A -> T (in dbSNP:rs55814513)"
FT /evidence="ECO:0000269|PubMed:10624825"
FT /id="VAR_010602"
FT VARIANT 567..568
FT /note="Missing (in WFS1)"
FT /id="VAR_009115"
FT VARIANT 576
FT /note="G -> S (in dbSNP:rs1805069)"
FT /evidence="ECO:0000269|PubMed:10679252,
FT ECO:0000269|PubMed:10760554"
FT /id="VAR_010603"
FT VARIANT 602
FT /note="A -> V (in dbSNP:rs2230720)"
FT /id="VAR_024554"
FT VARIANT 611
FT /note="R -> H (in dbSNP:rs734312)"
FT /evidence="ECO:0000269|PubMed:10521293,
FT ECO:0000269|PubMed:10624825, ECO:0000269|PubMed:10679252,
FT ECO:0000269|PubMed:10760554, ECO:0000269|PubMed:11295831,
FT ECO:0000269|PubMed:11709538, ECO:0000269|PubMed:15605410,
FT ECO:0000269|PubMed:18688868, ECO:0000269|PubMed:9771706,
FT ECO:0000269|Ref.5"
FT /id="VAR_005843"
FT VARIANT 629
FT /note="R -> W (in WFS1; dbSNP:rs71530910)"
FT /evidence="ECO:0000269|PubMed:15605410"
FT /id="VAR_029505"
FT VARIANT 634
FT /note="K -> T (in DFNA6; dbSNP:rs104893882)"
FT /evidence="ECO:0000269|PubMed:12181639"
FT /id="VAR_032963"
FT VARIANT 653
FT /note="R -> C (in DFNA6; also found in a patient with type
FT 2 diabetes; unknown pathological significance;
FT dbSNP:rs201064551)"
FT /evidence="ECO:0000269|PubMed:10679252,
FT ECO:0000269|PubMed:25388789"
FT /id="VAR_014037"
FT VARIANT 669
FT /note="Y -> C (in WFS1; dbSNP:rs1402999203)"
FT /evidence="ECO:0000269|PubMed:9817917"
FT /id="VAR_014038"
FT VARIANT 669
FT /note="Y -> H (in DFNA6)"
FT /evidence="ECO:0000269|PubMed:17517145"
FT /id="VAR_074211"
FT VARIANT 674
FT /note="G -> R (in dbSNP:rs200672755)"
FT /evidence="ECO:0000269|PubMed:11161832"
FT /id="VAR_011309"
FT VARIANT 680
FT /note="Missing (in DFNA6; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:25388789"
FT /id="VAR_080401"
FT VARIANT 684
FT /note="A -> V (in WFSL; greatly reduces protein expression
FT compared to wild-type; dbSNP:rs387906930)"
FT /evidence="ECO:0000269|PubMed:11295831,
FT ECO:0000269|PubMed:21538838"
FT /id="VAR_011310"
FT VARIANT 685
FT /note="R -> P (in DFNA6; dbSNP:rs142668478)"
FT /evidence="ECO:0000269|PubMed:18518985"
FT /id="VAR_074212"
FT VARIANT 690
FT /note="C -> R (in WFS1; dbSNP:rs754373473)"
FT /id="VAR_009116"
FT VARIANT 695
FT /note="G -> V (in WFS1; dbSNP:rs28937891)"
FT /evidence="ECO:0000269|PubMed:9771706"
FT /id="VAR_005844"
FT VARIANT 696
FT /note="H -> Y (in DFNA6)"
FT /evidence="ECO:0000269|PubMed:21356526"
FT /id="VAR_074213"
FT VARIANT 699
FT /note="T -> M (in DFNA6; dbSNP:rs28937894)"
FT /evidence="ECO:0000269|PubMed:11709537"
FT /id="VAR_032964"
FT VARIANT 700
FT /note="W -> C (in WFS1)"
FT /id="VAR_009117"
FT VARIANT 703
FT /note="R -> H (in DFNA6; dbSNP:rs1323852277)"
FT /evidence="ECO:0000269|PubMed:21356526"
FT /id="VAR_074214"
FT VARIANT 708
FT /note="R -> C (in dbSNP:rs200099217)"
FT /evidence="ECO:0000269|PubMed:11295831"
FT /id="VAR_011311"
FT VARIANT 716
FT /note="A -> T (in DFNA6; dbSNP:rs28937893)"
FT /evidence="ECO:0000269|PubMed:11709537,
FT ECO:0000269|PubMed:11709538"
FT /id="VAR_032965"
FT VARIANT 720
FT /note="I -> V (in dbSNP:rs1805070)"
FT /evidence="ECO:0000269|PubMed:10679252,
FT ECO:0000269|PubMed:10760554"
FT /id="VAR_010604"
FT VARIANT 724
FT /note="P -> L (in WFS1; dbSNP:rs28937890)"
FT /evidence="ECO:0000269|PubMed:9771706"
FT /id="VAR_005845"
FT VARIANT 736
FT /note="G -> S (in WFS1; dbSNP:rs71532864)"
FT /evidence="ECO:0000269|PubMed:15605410"
FT /id="VAR_009118"
FT VARIANT 737
FT /note="E -> K (in dbSNP:rs147834269)"
FT /evidence="ECO:0000269|PubMed:10760554,
FT ECO:0000269|PubMed:11161832, ECO:0000269|PubMed:22938506"
FT /id="VAR_011312"
FT VARIANT 779
FT /note="V -> M (in DFNA6; benign variant;
FT dbSNP:rs141328044)"
FT /evidence="ECO:0000269|PubMed:11709537"
FT /id="VAR_032966"
FT VARIANT 780
FT /note="G -> R (in WFS1)"
FT /evidence="ECO:0000269|PubMed:11161832"
FT /id="VAR_011313"
FT VARIANT 780
FT /note="G -> S (in WFSL; mildly decreases protein expression
FT compared to wild-type; dbSNP:rs387906931)"
FT /evidence="ECO:0000269|PubMed:21538838"
FT /id="VAR_068344"
FT VARIANT 797
FT /note="D -> Y (in WFSL)"
FT /evidence="ECO:0000269|PubMed:21538838"
FT /id="VAR_068345"
FT VARIANT 802
FT /note="I -> V (in dbSNP:rs746922325)"
FT /evidence="ECO:0000269|PubMed:15605410"
FT /id="VAR_029506"
FT VARIANT 818
FT /note="R -> C (in WFS1; dbSNP:rs35932623)"
FT /evidence="ECO:0000269|PubMed:11161832"
FT /id="VAR_011314"
FT VARIANT 829
FT /note="L -> P (in DFNA6; dbSNP:rs104893883)"
FT /evidence="ECO:0000269|PubMed:11709537"
FT /id="VAR_032967"
FT VARIANT 831
FT /note="G -> D (in DFNA6; dbSNP:rs28937895)"
FT /evidence="ECO:0000269|PubMed:11709537"
FT /id="VAR_032968"
FT VARIANT 836
FT /note="K -> N (in WFSL; dbSNP:rs876657675)"
FT /evidence="ECO:0000269|PubMed:20069065"
FT /id="VAR_068346"
FT VARIANT 859
FT /note="R -> Q (in DFNA6; dbSNP:rs121912618)"
FT /evidence="ECO:0000269|PubMed:18688868"
FT /id="VAR_068347"
FT VARIANT 864
FT /note="E -> K (in WFSL; dbSNP:rs74315205)"
FT /evidence="ECO:0000269|PubMed:16648378"
FT /id="VAR_032969"
FT VARIANT 871
FT /note="V -> M (in dbSNP:rs71532874)"
FT /evidence="ECO:0000269|PubMed:11709538,
FT ECO:0000269|PubMed:15605410"
FT /id="VAR_014996"
FT VARIANT 885
FT /note="P -> L (in WFS1; mild form; dbSNP:rs372855769)"
FT /id="VAR_009119"
SQ SEQUENCE 890 AA; 100292 MW; 4D7F27C547004EC6 CRC64;
MDSNTAPLGP SCPQPPPAPQ PQARSRLNAT ASLEQERSER PRAPGPQAGP GPGVRDAAAP
AEPQAQHTRS RERADGTGPT KGDMEIPFEE VLERAKAGDP KAQTEVGKHY LQLAGDTDEE
LNSCTAVDWL VLAAKQGRRE AVKLLRRCLA DRRGITSENE REVRQLSSET DLERAVRKAA
LVMYWKLNPK KKKQVAVAEL LENVGQVNEH DGGAQPGPVP KSLQKQRRML ERLVSSESKN
YIALDDFVEI TKKYAKGVIP SSLFLQDDED DDELAGKSPE DLPLRLKVVK YPLHAIMEIK
EYLIDMASRA GMHWLSTIIP THHINALIFF FIVSNLTIDF FAFFIPLVIF YLSFISMVIC
TLKVFQDSKA WENFRTLTDL LLRFEPNLDV EQAEVNFGWN HLEPYAHFLL SVFFVIFSFP
IASKDCIPCS ELAVITGFFT VTSYLSLSTH AEPYTRRALA TEVTAGLLSL LPSMPLNWPY
LKVLGQTFIT VPVGHLVVLN VSVPCLLYVY LLYLFFRMAQ LRNFKGTYCY LVPYLVCFMW
CELSVVILLE STGLGLLRAS IGYFLFLFAL PILVAGLALV GVLQFARWFT SLELTKIAVT
VAVCSVPLLL RWWTKASFSV VGMVKSLTRS SMVKLILVWL TAIVLFCWFY VYRSEGMKVY
NSTLTWQQYG ALCGPRAWKE TNMARTQILC SHLEGHRVTW TGRFKYVRVT DIDNSAESAI
NMLPFFIGDW MRCLYGEAYP ACSPGNTSTA EEELCRLKLL AKHPCHIKKF DRYKFEITVG
MPFSSGADGS RSREEDDVTK DIVLRASSEF KSVLLSLRQG SLIEFSTILE GRLGSKWPVF
ELKAISCLNC MAQLSPTRRH VKIEHDWRST VHGAVKFAFD FFFFPFLSAA
