CHD7_HUMAN
ID CHD7_HUMAN Reviewed; 2997 AA.
AC Q9P2D1; D0VBA5; E9PNZ2; Q05DI5; Q2TAN4; Q66K35; Q7Z6C0; Q7Z7Q2; Q9NXA0;
AC Q9NXA3;
DT 19-SEP-2002, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 3.
DT 03-AUG-2022, entry version 200.
DE RecName: Full=Chromodomain-helicase-DNA-binding protein 7;
DE Short=CHD-7;
DE EC=3.6.4.12;
DE AltName: Full=ATP-dependent helicase CHD7;
GN Name=CHD7; Synonyms=KIAA1416;
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] (ISOFORM 4), AND ALTERNATIVE SPLICING.
RA Colin C., Correa R.G., Tobaruella F.S., Sogayar M.C., Demasi M.A.;
RT "Cloning and characterization of a novel alternatively spliced transcript
RT of the human putative helicase CHD7.";
RL Submitted (OCT-2009) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 763-2729 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [4]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 853-2997 (ISOFORM 2), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2305-2997 (ISOFORM 1).
RC TISSUE=Hepatoma;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-639 AND 763-2997 (ISOFORM 1).
RC TISSUE=Blood, Brain, Eye, Lung, Placenta, and Skin;
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E.,
RA Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y.,
RA Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2356; SER-2533; THR-2551 AND
RP SER-2559, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2559, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [10]
RP INTERACTION WITH CHD8, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS
RP CHARGES ARG-2091; ARG-2096 AND ARG-2108, AND CHARACTERIZATION OF VARIANT
RP ILE-2102.
RX PubMed=20453063; DOI=10.1093/hmg/ddq189;
RA Batsukh T., Pieper L., Koszucka A.M., von Velsen N., Hoyer-Fender S.,
RA Elbracht M., Bergman J.E., Hoefsloot L.H., Pauli S.;
RT "CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.";
RL Hum. Mol. Genet. 19:2858-2866(2010).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1874; SER-2251; SER-2395;
RP THR-2472; SER-2533; THR-2551; SER-2559; SER-2619; SER-2956 AND SER-2961,
RP AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [12]
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 [13]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-637; SER-725; SER-1577;
RP SER-1581; SER-1874; SER-2231; SER-2233; SER-2237; SER-2251; SER-2272;
RP SER-2275; SER-2533; SER-2535; SER-2559; SER-2956 AND SER-2961, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [14]
RP ALTERNATIVE SPLICING (ISOFORM 3), FUNCTION, SUBCELLULAR LOCATION, AND
RP TISSUE SPECIFICITY.
RX PubMed=22646239; DOI=10.1111/j.1365-2443.2012.01606.x;
RA Kita Y., Nishiyama M., Nakayama K.I.;
RT "Identification of CHD7S as a novel splicing variant of CHD7 with functions
RT similar and antagonistic to those of the full-length CHD7L.";
RL Genes Cells 17:536-547(2012).
RN [15]
RP INTERACTION WITH FAM124B.
RX PubMed=23285124; DOI=10.1371/journal.pone.0052640;
RA Batsukh T., Schulz Y., Wolf S., Rabe T.I., Oellerich T., Urlaub H.,
RA Schaefer I.M., Pauli S.;
RT "Identification and characterization of FAM124B as a novel component of a
RT CHD7 and CHD8 containing complex.";
RL PLoS ONE 7:E52640-E52640(2012).
RN [16]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2559 AND SER-2956, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
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 [17]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-148, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Colon carcinoma;
RX PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
RN [18]
RP VARIANTS CHARGES PRO-1745; ILE-2102 AND CYS-2319, AND VARIANTS LEU-466;
RP VAL-511; VAL-522; ALA-527; LYS-2077 AND MET-2112.
RX PubMed=16763960; DOI=10.1002/ajmg.a.31308;
RA Felix T.M., Hanshaw B.C., Mueller R., Bitoun P., Murray J.C.;
RT "CHD7 gene and non-syndromic cleft lip and palate.";
RL Am. J. Med. Genet. A 140:2110-2114(2006).
RN [19]
RP VARIANTS CHARGES CYS-72; PRO-99; GLU-254; SER-439; GLY-699; CYS-840;
RP ALA-942; ARG-975; SER-1020; VAL-1028; ARG-1031; SER-1081; ASN-1082;
RP ARG-1101; ARG-1214; ARG-1251; PRO-1292; CYS-1317; ARG-1318; HIS-1345;
RP ASP-1617; VAL-1619; SER-1684; VAL-1797; HIS-1812; GLY-1812; PRO-1815;
RP PRO-2074; ARG-2091; GLY-2097; ILE-2102; ARG-2108; THR-2259; ALA-2286;
RP THR-2312; ARG-2366 AND GLU-2464, AND VARIANTS LEU-37; ALA-93; LEU-167;
RP LEU-238; GLY-286; PRO-524; ALA-558; LYS-596; SER-744; ASN-812; HIS-944;
RP SER-1594; VAL-1672; GLY-1866; GLY-1972; TRP-2062; MET-2112; ASP-2118;
RP THR-2225; ALA-2330; SER-2415; ASP-2488; CYS-2491; GLN-2653; VAL-2725;
RP LEU-2750; VAL-2780; THR-2789 AND ALA-2857.
RX PubMed=22461308; DOI=10.1002/humu.22086;
RA Janssen N., Bergman J.E., Swertz M.A., Tranebjaerg L., Lodahl M.,
RA Schoots J., Hofstra R.M., van Ravenswaaij-Arts C.M., Hoefsloot L.H.;
RT "Mutation update on the CHD7 gene involved in CHARGE syndrome.";
RL Hum. Mutat. 33:1149-1160(2012).
RN [20]
RP STRUCTURE BY NMR OF 2561-2715, AND INTERACTION WITH CTCF.
RX PubMed=17603073; DOI=10.1016/j.jmb.2007.06.007;
RA Allen M.D., Religa T.L., Freund S.M., Bycroft M.;
RT "Solution structure of the BRK domains from CHD7.";
RL J. Mol. Biol. 371:1135-1140(2007).
RN [21]
RP VARIANTS CHARGES VAL-1028 AND ARG-1257, AND TISSUE SPECIFICITY.
RX PubMed=15300250; DOI=10.1038/ng1407;
RA Vissers L.E.L.M., van Ravenswaaij C.M.A., Admiraal R., Hurst J.A.,
RA de Vries B.B.A., Janssen I.M., van der Vliet W.A., Huys E.H.L.P.G.,
RA de Jong P.J., Hamel B.C.J., Schoenmakers E.F.P.M., Brunner H.G.,
RA Veltman J.A., Geurts van Kessel A.;
RT "Mutations in a new member of the chromodomain gene family cause CHARGE
RT syndrome.";
RL Nat. Genet. 36:955-957(2004).
RN [22]
RP VARIANTS CHARGES GLY-1031; ARG-1214; PRO-1294; PRO-1815; ARG-2096 AND
RP SER-2319.
RX PubMed=16400610; DOI=10.1086/500273;
RA Lalani S.R., Safiullah A.M., Fernbach S.D., Harutyunyan K.G., Thaller C.,
RA Peterson L.E., McPherson J.D., Gibbs R.A., White L.D., Hefner M.,
RA Davenport S.L.H., Graham J.M., Bacino C.A., Glass N.L., Towbin J.A.,
RA Craigen W.J., Neish S.R., Lin A.E., Belmont J.W.;
RT "Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and
RT genotype-phenotype correlation.";
RL Am. J. Hum. Genet. 78:303-314(2006).
RN [23]
RP INVOLVEMENT IN SUSCEPTIBILITY TO IS3.
RX PubMed=17436250; DOI=10.1086/513571;
RA Gao X., Gordon D., Zhang D., Browne R., Helms C., Gillum J., Weber S.,
RA Devroy S., Swaney S., Dobbs M., Morcuende J., Sheffield V., Lovett M.,
RA Bowcock A., Herring J., Wise C.;
RT "CHD7 gene polymorphisms are associated with susceptibility to idiopathic
RT scoliosis.";
RL Am. J. Hum. Genet. 80:957-965(2007).
RN [24]
RP VARIANTS HH5 ARG-55; PHE-834; LEU-2880 AND GLU-2948, AND VARIANT THR-2789.
RX PubMed=18834967; DOI=10.1016/j.ajhg.2008.09.005;
RA Kim H.-G., Kurth I., Lan F., Meliciani I., Wenzel W., Eom S.H., Kang G.B.,
RA Rosenberger G., Tekin M., Ozata M., Bick D.P., Sherins R.J., Walker S.L.,
RA Shi Y., Gusella J.F., Layman L.C.;
RT "Mutations in CHD7, encoding a chromatin-remodeling protein, cause
RT idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.";
RL Am. J. Hum. Genet. 83:511-519(2008).
RN [25]
RP VARIANT CHARGES ARG-2108.
RX PubMed=18074359; DOI=10.1002/ajmg.a.31921;
RA Jongmans M.C., Hoefsloot L.H., van der Donk K.P., Admiraal R.J., Magee A.,
RA van de Laar I., Hendriks Y., Verheij J.B., Walpole I., Brunner H.G.,
RA van Ravenswaaij C.M.;
RT "Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation,
RT intrafamilial recurrence and variability.";
RL Am. J. Med. Genet. A 146:43-50(2008).
RN [26]
RP VARIANTS THR-103 AND ASP-117, AND VARIANTS CHARGES ARG-1214; PRO-1302;
RP TRP-1592 AND ASP-1742.
RX PubMed=18445044; DOI=10.1111/j.1399-0004.2008.01014.x;
RA Wincent J., Holmberg E., Stromland K., Soller M., Mirzaei L.,
RA Djureinovic T., Robinson K., Anderlid B., Schoumans J.;
RT "CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE
RT syndrome.";
RL Clin. Genet. 74:31-38(2008).
RN [27]
RP VARIANT CHARGES ASN-2116.
RX PubMed=19021638; DOI=10.1111/j.1399-0004.2008.01107.x;
RA Jongmans M.C., van Ravenswaaij-Arts C.M., Pitteloud N., Ogata T., Sato N.,
RA Claahsen-van der Grinten H.L., van der Donk K., Seminara S., Bergman J.E.,
RA Brunner H.G., Crowley W.F. Jr., Hoefsloot L.H.;
RT "CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the
RT clinical overlap with CHARGE syndrome.";
RL Clin. Genet. 75:65-71(2009).
RN [28]
RP VARIANTS CHARGES ILE-41; ARG-86; MET-238; ALA-558; THR-699; ASN-728;
RP ASP-871; ALA-894; THR-907; MET-917; LYS-938; HIS-944; GLN-947; VAL-1028;
RP GLN-1203; ASP-1208; PRO-1294; PRO-1322; CYS-1345; HIS-1395; ARG-1416;
RP GLN-1457; CYS-1576; SER-1617; SER-1684; ARG-1739 GLU-1791; GLY-1866;
RP THR-1950; HIS-2065; GLY-2084; ASP-2103; ASN-2116; CYS-2319; SER-2495;
RP SER-2683; CYS-2702; THR-2733 AND MET-2931, AND VARIANTS THR-103; ARG-201;
RP VAL-340; ALA-369; LEU-466; VAL-522; VAL-636; SER-744; THR-2160; THR-2225;
RP ALA-2330; LEU-2527; VAL-2806; ALA-2857 AND PHE-2984.
RX PubMed=21158681; DOI=10.1089/gtmb.2010.0101;
RA Bartels C.F., Scacheri C., White L., Scacheri P.C., Bale S.;
RT "Mutations in the CHD7 gene: the experience of a commercial laboratory.";
RL Genet. Test. Mol. Biomarkers 14:881-891(2010).
RN [29]
RP VARIANT CHARGES SER-2065.
RX PubMed=21931733; DOI=10.1371/journal.pone.0024511;
RA Song M.H., Cho H.J., Lee H.K., Kwon T.J., Lee W.S., Oh S., Bok J.,
RA Choi J.Y., Kim U.K.;
RT "CHD7 mutational analysis and clinical considerations for auditory
RT rehabilitation in deaf patients with CHARGE syndrome.";
RL PLoS ONE 6:E24511-E24511(2011).
RN [30]
RP VARIANTS CHARGES SER-1020 AND ASP-1802.
RX PubMed=21554267; DOI=10.1111/j.1399-0004.2011.01701.x;
RA Pauli S., von Velsen N., Burfeind P., Steckel M., Manz J., Buchholz A.,
RA Borozdin W., Kohlhase J.;
RT "CHD7 mutations causing CHARGE syndrome are predominantly of paternal
RT origin.";
RL Clin. Genet. 81:234-239(2012).
RN [31]
RP VARIANTS CHARGES SER-1684 AND GLY-2418, AND VARIANT GLN-2653.
RX PubMed=22462537; DOI=10.1111/j.1399-0004.2012.01884.x;
RA Husu E., Hove H., Farholt S., Bille M., Tranebjaerg L., Vogel I.,
RA Kreiborg S.;
RT "Phenotype in 18 Danish subjects with genetically verified CHARGE
RT syndrome.";
RL Clin. Genet. 83:125-134(2013).
RN [32]
RP VARIANTS HH5 LYS-685 INS; HIS-758; TRP-886; SER-944; SER-1030; GLU-1291;
RP CYS-1345; PHE-1375; SER-1684; VAL-1838; GLY-1912; CYS-2065; PRO-2074;
RP ARG-2108; THR-2259; GLY-2398 AND PRO-2833, AND VARIANTS SER-744; THR-2160
RP AND LEU-2527.
RX PubMed=25077900; DOI=10.1210/jc.2014-2110;
RA Marcos S., Sarfati J., Leroy C., Fouveaut C., Parent P., Metz C.,
RA Wolczynski S., Gerard M., Bieth E., Kurtz F., Verier-Mine O., Perrin L.,
RA Archambeaud F., Cabrol S., Rodien P., Hove H., Prescott T., Lacombe D.,
RA Christin-Maitre S., Touraine P., Hieronimus S., Dewailly D., Young J.,
RA Pugeat M., Hardelin J.P., Dode C.;
RT "The prevalence of CHD7 missense versus truncating mutations is higher in
RT patients with Kallmann syndrome than in typical CHARGE patients.";
RL J. Clin. Endocrinol. Metab. 99:E2138-2143(2014).
RN [33]
RP VARIANT CHARGES TRP-2108.
RX PubMed=25818041; DOI=10.1111/epi.12954;
RA Mercimek-Mahmutoglu S., Patel J., Cordeiro D., Hewson S., Callen D.,
RA Donner E.J., Hahn C.D., Kannu P., Kobayashi J., Minassian B.A., Moharir M.,
RA Siriwardena K., Weiss S.K., Weksberg R., Snead O.C. III;
RT "Diagnostic yield of genetic testing in epileptic encephalopathy in
RT childhood.";
RL Epilepsia 56:707-716(2015).
RN [34]
RP VARIANT SER-744.
RX PubMed=21995344; DOI=10.1186/1687-9856-2011-11;
RA Jain S., Kim H.G., Lacbawan F., Meliciani I., Wenzel W., Kurth I.,
RA Sharma J., Schoeneman M., Ten S., Layman L.C., Jacobson-Dickman E.;
RT "Unique phenotype in a patient with CHARGE syndrome.";
RL Int. J. Pediatr. Endocrinol. 2011:11-11(2011).
CC -!- FUNCTION: Probable transcription regulator. Maybe involved in the in
CC 45S precursor rRNA production. {ECO:0000269|PubMed:22646239}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065,
CC ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616,
CC ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;
CC -!- SUBUNIT: May interact with CTCF (PubMed:17603073). Interacts with CHD8
CC (PubMed:20453063). Interacts with FAM124B (PubMed:23285124). Found in a
CC complex composed of AGO2, CHD7 and FAM172A (By similarity).
CC {ECO:0000250|UniProtKB:A2AJK6, ECO:0000269|PubMed:17603073,
CC ECO:0000269|PubMed:20453063, ECO:0000269|PubMed:23285124}.
CC -!- INTERACTION:
CC Q9P2D1; Q9HCK8-2: CHD8; NbExp=3; IntAct=EBI-3951683, EBI-4410319;
CC Q9P2D1; Q86U86: PBRM1; NbExp=4; IntAct=EBI-3951683, EBI-637807;
CC Q9P2D1; Q8TAQ2: SMARCC2; NbExp=4; IntAct=EBI-3951683, EBI-357418;
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Nucleus
CC {ECO:0000269|PubMed:20453063}.
CC -!- SUBCELLULAR LOCATION: [Isoform 3]: Nucleus, nucleolus
CC {ECO:0000269|PubMed:22646239}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=CHD7L;
CC IsoId=Q9P2D1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P2D1-2; Sequence=VSP_026038, VSP_026039;
CC Name=3; Synonyms=CHD7S;
CC IsoId=Q9P2D1-3; Sequence=VSP_046564, VSP_046565;
CC Name=4;
CC IsoId=Q9P2D1-4; Sequence=VSP_046563;
CC -!- TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues.
CC {ECO:0000269|PubMed:15300250, ECO:0000269|PubMed:22646239}.
CC -!- DISEASE: CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of
CC congenital anomalies. Is characterized by a non-random pattern of
CC congenital anomalies including choanal atresia and malformations of the
CC heart, inner ear, and retina. {ECO:0000269|PubMed:15300250,
CC ECO:0000269|PubMed:16400610, ECO:0000269|PubMed:16763960,
CC ECO:0000269|PubMed:18074359, ECO:0000269|PubMed:18445044,
CC ECO:0000269|PubMed:19021638, ECO:0000269|PubMed:20453063,
CC ECO:0000269|PubMed:21158681, ECO:0000269|PubMed:21554267,
CC ECO:0000269|PubMed:21931733, ECO:0000269|PubMed:22461308,
CC ECO:0000269|PubMed:22462537, ECO:0000269|PubMed:25818041}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of
CC the vertebral column in which patients develop lateral curvature of the
CC spine of at least 10 degrees. {ECO:0000269|PubMed:17436250}.
CC Note=Disease susceptibility is associated with variants affecting the
CC gene represented in this entry.
CC -!- DISEASE: Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)
CC [MIM:612370]: A disorder characterized by absent or incomplete sexual
CC maturation by the age of 18 years, in conjunction with low levels of
CC circulating gonadotropins and testosterone and no other abnormalities
CC of the hypothalamic-pituitary axis. In some cases, it is associated
CC with non-reproductive phenotypes, such as anosmia, cleft palate, and
CC sensorineural hearing loss. Anosmia or hyposmia is related to the
CC absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
CC is due to deficiency in gonadotropin-releasing hormone and probably
CC results from a failure of embryonic migration of gonadotropin-releasing
CC hormone-synthesizing neurons. In the presence of anosmia, idiopathic
CC hypogonadotropic hypogonadism is referred to as Kallmann syndrome,
CC whereas in the presence of a normal sense of smell, it has been termed
CC normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
CC {ECO:0000269|PubMed:18834967, ECO:0000269|PubMed:21158681,
CC ECO:0000269|PubMed:25077900}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 2]: May be due to an intron retention.
CC {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 3]: Ubiquitous, expression enriched in lung and
CC large intestine. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the SNF2/RAD54 helicase family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH14681.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH14681.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=AAH53890.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH68000.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH80627.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH80627.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=AAI10819.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=BAA91113.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA91116.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=CHD7 database;
CC URL="https://molgenis51.target.rug.nl/";
CC ---------------------------------------------------------------------------
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DR EMBL; GU060498; ACY35999.1; -; mRNA.
DR EMBL; AC023102; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC113143; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB037837; BAA92654.1; -; mRNA.
DR EMBL; AK000364; BAA91113.1; ALT_INIT; mRNA.
DR EMBL; AK000368; BAA91116.1; ALT_INIT; mRNA.
DR EMBL; BC014681; AAH14681.1; ALT_SEQ; mRNA.
DR EMBL; BC051264; AAH51264.1; -; mRNA.
DR EMBL; BC053890; AAH53890.1; ALT_INIT; mRNA.
DR EMBL; BC068000; AAH68000.1; ALT_INIT; mRNA.
DR EMBL; BC080627; AAH80627.1; ALT_SEQ; mRNA.
DR EMBL; BC110818; AAI10819.1; ALT_SEQ; mRNA.
DR CCDS; CCDS47865.1; -. [Q9P2D1-1]
DR CCDS; CCDS83299.1; -. [Q9P2D1-4]
DR RefSeq; NP_001303619.1; NM_001316690.1. [Q9P2D1-4]
DR RefSeq; NP_060250.2; NM_017780.3. [Q9P2D1-1]
DR PDB; 2CKC; NMR; -; A=2563-2622.
DR PDB; 2V0E; NMR; -; A=2561-2614.
DR PDB; 2V0F; NMR; -; A=2631-2715.
DR PDBsum; 2CKC; -.
DR PDBsum; 2V0E; -.
DR PDBsum; 2V0F; -.
DR SMR; Q9P2D1; -.
DR BioGRID; 120775; 107.
DR DIP; DIP-48685N; -.
DR IntAct; Q9P2D1; 64.
DR MINT; Q9P2D1; -.
DR STRING; 9606.ENSP00000392028; -.
DR GlyGen; Q9P2D1; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9P2D1; -.
DR PhosphoSitePlus; Q9P2D1; -.
DR BioMuta; CHD7; -.
DR DMDM; 148877246; -.
DR EPD; Q9P2D1; -.
DR jPOST; Q9P2D1; -.
DR MassIVE; Q9P2D1; -.
DR MaxQB; Q9P2D1; -.
DR PaxDb; Q9P2D1; -.
DR PeptideAtlas; Q9P2D1; -.
DR PRIDE; Q9P2D1; -.
DR ProteomicsDB; 22566; -.
DR ProteomicsDB; 83773; -. [Q9P2D1-1]
DR ProteomicsDB; 83774; -. [Q9P2D1-2]
DR ABCD; Q9P2D1; 1 sequenced antibody.
DR Antibodypedia; 24678; 158 antibodies from 30 providers.
DR DNASU; 55636; -.
DR Ensembl; ENST00000423902.7; ENSP00000392028.1; ENSG00000171316.12. [Q9P2D1-1]
DR Ensembl; ENST00000524602.5; ENSP00000437061.1; ENSG00000171316.12. [Q9P2D1-4]
DR Ensembl; ENST00000525508.1; ENSP00000436027.1; ENSG00000171316.12. [Q9P2D1-2]
DR GeneID; 55636; -.
DR KEGG; hsa:55636; -.
DR MANE-Select; ENST00000423902.7; ENSP00000392028.1; NM_017780.4; NP_060250.2.
DR UCSC; uc003xue.4; human. [Q9P2D1-1]
DR CTD; 55636; -.
DR DisGeNET; 55636; -.
DR GeneCards; CHD7; -.
DR GeneReviews; CHD7; -.
DR HGNC; HGNC:20626; CHD7.
DR HPA; ENSG00000171316; Tissue enhanced (brain).
DR MalaCards; CHD7; -.
DR MIM; 214800; phenotype.
DR MIM; 608765; phenotype.
DR MIM; 608892; gene.
DR MIM; 612370; phenotype.
DR neXtProt; NX_Q9P2D1; -.
DR OpenTargets; ENSG00000171316; -.
DR Orphanet; 138; CHARGE syndrome.
DR Orphanet; 478; Kallmann syndrome.
DR Orphanet; 432; Normosmic congenital hypogonadotropic hypogonadism.
DR Orphanet; 39041; Omenn syndrome.
DR PharmGKB; PA134948695; -.
DR VEuPathDB; HostDB:ENSG00000171316; -.
DR eggNOG; KOG0384; Eukaryota.
DR GeneTree; ENSGT00940000153649; -.
DR HOGENOM; CLU_000315_5_0_1; -.
DR InParanoid; Q9P2D1; -.
DR OMA; TMDMTGF; -.
DR OrthoDB; 7181at2759; -.
DR PhylomeDB; Q9P2D1; -.
DR TreeFam; TF313572; -.
DR PathwayCommons; Q9P2D1; -.
DR SignaLink; Q9P2D1; -.
DR SIGNOR; Q9P2D1; -.
DR BioGRID-ORCS; 55636; 32 hits in 1098 CRISPR screens.
DR ChiTaRS; CHD7; human.
DR EvolutionaryTrace; Q9P2D1; -.
DR GeneWiki; CHD7; -.
DR GenomeRNAi; 55636; -.
DR Pharos; Q9P2D1; Tbio.
DR PRO; PR:Q9P2D1; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9P2D1; protein.
DR Bgee; ENSG00000171316; Expressed in secondary oocyte and 197 other tissues.
DR ExpressionAtlas; Q9P2D1; baseline and differential.
DR Genevisible; Q9P2D1; HS.
DR GO; GO:0000785; C:chromatin; IBA:GO_Central.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0016887; F:ATP hydrolysis activity; IBA:GO_Central.
DR GO; GO:0140658; F:ATP-dependent chromatin remodeler activity; IBA:GO_Central.
DR GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; IBA:GO_Central.
DR GO; GO:0003678; F:DNA helicase activity; IEA:UniProtKB-EC.
DR GO; GO:0042393; F:histone binding; IBA:GO_Central.
DR GO; GO:1990841; F:promoter-specific chromatin binding; IEA:Ensembl.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:0007512; P:adult heart development; IEA:Ensembl.
DR GO; GO:0007628; P:adult walking behavior; IEA:Ensembl.
DR GO; GO:0035909; P:aorta morphogenesis; IEA:Ensembl.
DR GO; GO:0036302; P:atrioventricular canal development; IEA:Ensembl.
DR GO; GO:0008015; P:blood circulation; IEA:Ensembl.
DR GO; GO:0001974; P:blood vessel remodeling; IEA:Ensembl.
DR GO; GO:0060411; P:cardiac septum morphogenesis; IEA:Ensembl.
DR GO; GO:0007417; P:central nervous system development; IMP:BHF-UCL.
DR GO; GO:0043009; P:chordate embryonic development; IBA:GO_Central.
DR GO; GO:0006338; P:chromatin remodeling; IBA:GO_Central.
DR GO; GO:0050890; P:cognition; IMP:BHF-UCL.
DR GO; GO:0021545; P:cranial nerve development; IMP:BHF-UCL.
DR GO; GO:0035116; P:embryonic hindlimb morphogenesis; IEA:Ensembl.
DR GO; GO:0060429; P:epithelium development; IEA:Ensembl.
DR GO; GO:0060324; P:face development; IMP:BHF-UCL.
DR GO; GO:0030540; P:female genitalia development; IEA:Ensembl.
DR GO; GO:0048806; P:genitalia development; IMP:BHF-UCL.
DR GO; GO:0003007; P:heart morphogenesis; IMP:BHF-UCL.
DR GO; GO:0001701; P:in utero embryonic development; IMP:BHF-UCL.
DR GO; GO:0042472; P:inner ear morphogenesis; IMP:BHF-UCL.
DR GO; GO:0060384; P:innervation; IEA:Ensembl.
DR GO; GO:0060173; P:limb development; IMP:BHF-UCL.
DR GO; GO:0043584; P:nose development; IMP:BHF-UCL.
DR GO; GO:0042048; P:olfactory behavior; IEA:Ensembl.
DR GO; GO:0021772; P:olfactory bulb development; IEA:Ensembl.
DR GO; GO:0021553; P:olfactory nerve development; IEA:Ensembl.
DR GO; GO:0040018; P:positive regulation of multicellular organism growth; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0010468; P:regulation of gene expression; IBA:GO_Central.
DR GO; GO:0060123; P:regulation of growth hormone secretion; IMP:BHF-UCL.
DR GO; GO:0050767; P:regulation of neurogenesis; IEA:Ensembl.
DR GO; GO:0010880; P:regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; IEA:Ensembl.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; NAS:BHF-UCL.
DR GO; GO:0009617; P:response to bacterium; IEA:Ensembl.
DR GO; GO:0060041; P:retina development in camera-type eye; IMP:BHF-UCL.
DR GO; GO:0003226; P:right ventricular compact myocardium morphogenesis; IEA:Ensembl.
DR GO; GO:0006364; P:rRNA processing; IEA:UniProtKB-KW.
DR GO; GO:0062009; P:secondary palate development; IMP:BHF-UCL.
DR GO; GO:0048752; P:semicircular canal morphogenesis; IEA:Ensembl.
DR GO; GO:0007605; P:sensory perception of sound; IEA:Ensembl.
DR GO; GO:0001501; P:skeletal system development; IMP:BHF-UCL.
DR GO; GO:0030217; P:T cell differentiation; IMP:BHF-UCL.
DR GO; GO:0006366; P:transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0003222; P:ventricular trabecula myocardium morphogenesis; IEA:Ensembl.
DR Gene3D; 3.40.5.120; -; 2.
DR Gene3D; 3.40.50.10810; -; 1.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR006576; BRK_domain.
DR InterPro; IPR037259; BRK_sf.
DR InterPro; IPR016197; Chromo-like_dom_sf.
DR InterPro; IPR000953; Chromo/chromo_shadow_dom.
DR InterPro; IPR023780; Chromo_domain.
DR InterPro; IPR014001; Helicase_ATP-bd.
DR InterPro; IPR001650; Helicase_C.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR038718; SNF2-like_sf.
DR InterPro; IPR000330; SNF2_N.
DR Pfam; PF07533; BRK; 2.
DR Pfam; PF00385; Chromo; 2.
DR Pfam; PF00271; Helicase_C; 1.
DR Pfam; PF00176; SNF2-rel_dom; 1.
DR SMART; SM00592; BRK; 2.
DR SMART; SM00298; CHROMO; 2.
DR SMART; SM00487; DEXDc; 1.
DR SMART; SM00490; HELICc; 1.
DR SUPFAM; SSF160481; SSF160481; 2.
DR SUPFAM; SSF52540; SSF52540; 2.
DR SUPFAM; SSF54160; SSF54160; 2.
DR PROSITE; PS50013; CHROMO_2; 2.
DR PROSITE; PS51192; HELICASE_ATP_BIND_1; 1.
DR PROSITE; PS51194; HELICASE_CTER; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; ATP-binding; Chromatin regulator;
KW Coiled coil; Disease variant; DNA-binding; Helicase; Hydrolase;
KW Hypogonadotropic hypogonadism; Kallmann syndrome; Methylation;
KW Nucleotide-binding; Nucleus; Phosphoprotein; Reference proteome; Repeat;
KW rRNA processing; Transcription; Transcription regulation.
FT CHAIN 1..2997
FT /note="Chromodomain-helicase-DNA-binding protein 7"
FT /id="PRO_0000080232"
FT DOMAIN 800..867
FT /note="Chromo 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00053"
FT DOMAIN 882..947
FT /note="Chromo 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00053"
FT DOMAIN 980..1154
FT /note="Helicase ATP-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT DOMAIN 1294..1464
FT /note="Helicase C-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00542"
FT REGION 86..144
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 160..186
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 199..287
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 375..419
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 498..816
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 938..959
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1576..1600
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1837..1863
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2170..2290
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2823..2873
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2935..2997
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 2401..2431
FT /evidence="ECO:0000255"
FT MOTIF 1105..1108
FT /note="DEAH box"
FT COMPBIAS 86..106
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 163..179
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 199..261
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 388..416
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 512..526
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 539..554
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 651..689
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 697..725
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 733..765
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 780..795
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1576..1599
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2170..2215
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2275..2289
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2823..2837
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2838..2862
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2936..2970
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2973..2997
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 993..1000
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT MOD_RES 148
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT MOD_RES 286
FT /note="Asymmetric dimethylarginine"
FT /evidence="ECO:0000250|UniProtKB:A2AJK6"
FT MOD_RES 637
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 725
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 1577
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 1581
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 1874
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:21406692"
FT MOD_RES 2231
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 2233
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 2237
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 2251
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:21406692"
FT MOD_RES 2272
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 2275
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 2356
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 2395
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT MOD_RES 2472
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT MOD_RES 2533
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692"
FT MOD_RES 2535
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 2551
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:20068231"
FT MOD_RES 2559
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163"
FT MOD_RES 2619
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT MOD_RES 2956
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163"
FT MOD_RES 2961
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:21406692"
FT VAR_SEQ 572..2620
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_046563"
FT VAR_SEQ 833
FT /note="F -> L (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046564"
FT VAR_SEQ 834..2620
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046565"
FT VAR_SEQ 1127..1138
FT /note="EHKVLLTGTPLQ -> VSDHIGDCTEPE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026038"
FT VAR_SEQ 1139..2997
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026039"
FT VARIANT 37
FT /note="M -> L (in dbSNP:rs1416709395)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068374"
FT VARIANT 41
FT /note="M -> I (in CHARGES; unknown pathological
FT significance; dbSNP:rs756851968)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068104"
FT VARIANT 55
FT /note="H -> R (in HH5; phenotype consistent with Kallmann
FT syndrome; dbSNP:rs121434345)"
FT /evidence="ECO:0000269|PubMed:18834967"
FT /id="VAR_054623"
FT VARIANT 72
FT /note="Y -> C (in CHARGES; unknown pathological
FT significance; dbSNP:rs767819417)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068375"
FT VARIANT 86
FT /note="P -> R (in CHARGES; unknown pathological
FT significance; dbSNP:rs1355349547)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068105"
FT VARIANT 93
FT /note="T -> A (in dbSNP:rs398124317)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068376"
FT VARIANT 99
FT /note="A -> P (in CHARGES; unknown pathological
FT significance; dbSNP:rs779024959)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068377"
FT VARIANT 103
FT /note="S -> T (in dbSNP:rs41272435)"
FT /evidence="ECO:0000269|PubMed:18445044,
FT ECO:0000269|PubMed:21158681"
FT /id="VAR_068106"
FT VARIANT 117
FT /note="G -> D (in dbSNP:rs372110761)"
FT /evidence="ECO:0000269|PubMed:18445044"
FT /id="VAR_072954"
FT VARIANT 167
FT /note="P -> L (in dbSNP:rs61742851)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068378"
FT VARIANT 201
FT /note="Q -> R (in dbSNP:rs764496155)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068107"
FT VARIANT 238
FT /note="V -> L (in dbSNP:rs200898742)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068379"
FT VARIANT 238
FT /note="V -> M (in CHARGES; unknown pathological
FT significance; dbSNP:rs200898742)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068108"
FT VARIANT 254
FT /note="Q -> E (in CHARGES; unknown pathological
FT significance; dbSNP:rs1554581354)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068380"
FT VARIANT 286
FT /note="R -> G (in dbSNP:rs61995713)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068381"
FT VARIANT 340
FT /note="M -> V (in dbSNP:rs41305525)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_048731"
FT VARIANT 369
FT /note="P -> A (in dbSNP:rs766747354)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068109"
FT VARIANT 439
FT /note="P -> S (in CHARGES; unknown pathological
FT significance; dbSNP:rs772369092)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068382"
FT VARIANT 466
FT /note="S -> L (in dbSNP:rs71640285)"
FT /evidence="ECO:0000269|PubMed:16763960,
FT ECO:0000269|PubMed:21158681"
FT /id="VAR_068110"
FT VARIANT 511
FT /note="L -> V"
FT /evidence="ECO:0000269|PubMed:16763960"
FT /id="VAR_069032"
FT VARIANT 522
FT /note="G -> V (in dbSNP:rs142962579)"
FT /evidence="ECO:0000269|PubMed:16763960,
FT ECO:0000269|PubMed:21158681"
FT /id="VAR_068111"
FT VARIANT 524
FT /note="H -> P (in dbSNP:rs78962949)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068383"
FT VARIANT 527
FT /note="S -> A"
FT /evidence="ECO:0000269|PubMed:16763960"
FT /id="VAR_069033"
FT VARIANT 558
FT /note="P -> A (in CHARGES; unknown pathological
FT significance; dbSNP:rs746837682)"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_068112"
FT VARIANT 596
FT /note="Q -> K"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068384"
FT VARIANT 636
FT /note="G -> V (in dbSNP:rs529321177)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068113"
FT VARIANT 685
FT /note="A -> AK (in HH5)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072955"
FT VARIANT 699
FT /note="S -> G (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068385"
FT VARIANT 699
FT /note="S -> T (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068114"
FT VARIANT 728
FT /note="D -> N (in CHARGES; unknown pathological
FT significance; dbSNP:rs756365280)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068115"
FT VARIANT 744
FT /note="G -> S (in dbSNP:rs141947938)"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:21995344, ECO:0000269|PubMed:22461308,
FT ECO:0000269|PubMed:25077900"
FT /id="VAR_068116"
FT VARIANT 758
FT /note="R -> H (in HH5; dbSNP:rs202208393)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072956"
FT VARIANT 812
FT /note="K -> N (in dbSNP:rs61978638)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068386"
FT VARIANT 834
FT /note="S -> F (in HH5; phenotype consistent with normosmic
FT idiopathic hypogonadotropic hypogonadism;
FT dbSNP:rs121434344)"
FT /evidence="ECO:0000269|PubMed:18834967"
FT /id="VAR_054624"
FT VARIANT 840
FT /note="W -> C (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068387"
FT VARIANT 871
FT /note="E -> D (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068117"
FT VARIANT 886
FT /note="R -> W (in HH5; dbSNP:rs772260091)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072957"
FT VARIANT 894
FT /note="T -> A (in CHARGES; unknown pathological
FT significance; dbSNP:rs377662366)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068118"
FT VARIANT 907
FT /note="K -> T (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068119"
FT VARIANT 917
FT /note="T -> M (in CHARGES; unknown pathological
FT significance; dbSNP:rs1165711448)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068120"
FT VARIANT 938
FT /note="R -> K (in CHARGES; unknown pathological
FT significance; dbSNP:rs763978472)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068121"
FT VARIANT 942
FT /note="T -> A (in CHARGES; unknown pathological
FT significance; dbSNP:rs370194460)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068388"
FT VARIANT 944
FT /note="R -> H (in CHARGES; unknown pathological
FT significance; dbSNP:rs117506164)"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_068122"
FT VARIANT 944
FT /note="R -> S (in HH5; dbSNP:rs587783435)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072958"
FT VARIANT 947
FT /note="R -> Q (in CHARGES; unknown pathological
FT significance; dbSNP:rs768481542)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068123"
FT VARIANT 975
FT /note="G -> R (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068389"
FT VARIANT 1020
FT /note="L -> S (in CHARGES; dbSNP:rs1057521077)"
FT /evidence="ECO:0000269|PubMed:21554267,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_068124"
FT VARIANT 1028
FT /note="I -> V (in CHARGES; dbSNP:rs121434338)"
FT /evidence="ECO:0000269|PubMed:15300250,
FT ECO:0000269|PubMed:21158681, ECO:0000269|PubMed:22461308"
FT /id="VAR_021059"
FT VARIANT 1030
FT /note="N -> S (in HH5; dbSNP:rs886041167)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072959"
FT VARIANT 1031
FT /note="W -> G (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:16400610"
FT /id="VAR_033245"
FT VARIANT 1031
FT /note="W -> R (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068390"
FT VARIANT 1081
FT /note="I -> S (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068391"
FT VARIANT 1082
FT /note="T -> N (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068392"
FT VARIANT 1101
FT /note="C -> R (in CHARGES; dbSNP:rs1586393556)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068393"
FT VARIANT 1203
FT /note="E -> Q (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068125"
FT VARIANT 1208
FT /note="V -> D (in CHARGES; unknown pathological
FT significance; dbSNP:rs886040988)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068126"
FT VARIANT 1214
FT /note="Q -> R (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:16400610,
FT ECO:0000269|PubMed:18445044, ECO:0000269|PubMed:22461308"
FT /id="VAR_033246"
FT VARIANT 1251
FT /note="C -> R (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068394"
FT VARIANT 1257
FT /note="L -> R (in CHARGES; dbSNP:rs121434339)"
FT /evidence="ECO:0000269|PubMed:15300250"
FT /id="VAR_021060"
FT VARIANT 1291
FT /note="K -> E (in HH5)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072960"
FT VARIANT 1292
FT /note="L -> P (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068395"
FT VARIANT 1294
FT /note="L -> P (in CHARGES; dbSNP:rs864309609)"
FT /evidence="ECO:0000269|PubMed:16400610,
FT ECO:0000269|PubMed:21158681"
FT /id="VAR_033247"
FT VARIANT 1302
FT /note="L -> P (in CHARGES; dbSNP:rs1563643394)"
FT /evidence="ECO:0000269|PubMed:18445044"
FT /id="VAR_072961"
FT VARIANT 1317
FT /note="R -> C (in CHARGES; unknown pathological
FT significance; dbSNP:rs373301291)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068396"
FT VARIANT 1318
FT /note="C -> R (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068397"
FT VARIANT 1322
FT /note="L -> P (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068127"
FT VARIANT 1345
FT /note="R -> C (in CHARGES and HH5; unknown pathological
FT significance; dbSNP:rs1563644113)"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:25077900"
FT /id="VAR_068128"
FT VARIANT 1345
FT /note="R -> H (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068398"
FT VARIANT 1375
FT /note="L -> F (in HH5)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072962"
FT VARIANT 1395
FT /note="Q -> H (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068129"
FT VARIANT 1416
FT /note="T -> R (in CHARGES; unknown pathological
FT significance; dbSNP:rs770166812)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068130"
FT VARIANT 1457
FT /note="K -> Q (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068131"
FT VARIANT 1576
FT /note="F -> C (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068132"
FT VARIANT 1592
FT /note="R -> W (in CHARGES; unknown pathological
FT significance; dbSNP:rs773187713)"
FT /evidence="ECO:0000269|PubMed:18445044"
FT /id="VAR_072963"
FT VARIANT 1594
FT /note="P -> S"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068399"
FT VARIANT 1617
FT /note="G -> D (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068400"
FT VARIANT 1617
FT /note="G -> S (in CHARGES; unknown pathological
FT significance; dbSNP:rs886040993)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068133"
FT VARIANT 1619
FT /note="G -> V (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068401"
FT VARIANT 1672
FT /note="A -> V (in dbSNP:rs61737194)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068402"
FT VARIANT 1684
FT /note="G -> S (in CHARGES and HH5; dbSNP:rs1554602465)"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:22461308, ECO:0000269|PubMed:22462537,
FT ECO:0000269|PubMed:25077900"
FT /id="VAR_068134"
FT VARIANT 1739
FT /note="L -> R (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068135"
FT VARIANT 1742
FT /note="V -> D (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:18445044"
FT /id="VAR_072964"
FT VARIANT 1745
FT /note="L -> P (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:16763960"
FT /id="VAR_069034"
FT VARIANT 1791
FT /note="D -> E (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068136"
FT VARIANT 1797
FT /note="G -> V (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068403"
FT VARIANT 1802
FT /note="G -> D (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:21554267"
FT /id="VAR_068137"
FT VARIANT 1812
FT /note="D -> G (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068404"
FT VARIANT 1812
FT /note="D -> H (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068405"
FT VARIANT 1815
FT /note="L -> P (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:16400610,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_033248"
FT VARIANT 1838
FT /note="M -> V (in HH5; dbSNP:rs759918327)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072965"
FT VARIANT 1866
FT /note="D -> G (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_068138"
FT VARIANT 1912
FT /note="R -> G (in HH5)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072966"
FT VARIANT 1950
FT /note="A -> T (in CHARGES; unknown pathological
FT significance; dbSNP:rs201423234)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068139"
FT VARIANT 1972
FT /note="A -> G (in dbSNP:rs1013310877)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068406"
FT VARIANT 2062
FT /note="R -> W (in dbSNP:rs886063038)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068407"
FT VARIANT 2065
FT /note="R -> C (in HH5)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072967"
FT VARIANT 2065
FT /note="R -> H (in CHARGES; unknown pathological
FT significance; dbSNP:rs1197494895)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068140"
FT VARIANT 2065
FT /note="R -> S (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:21931733"
FT /id="VAR_068141"
FT VARIANT 2074
FT /note="L -> P (in CHARGES and HH5; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22461308,
FT ECO:0000269|PubMed:25077900"
FT /id="VAR_068408"
FT VARIANT 2077
FT /note="R -> K (found in a patient with cleft lip and
FT palate; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:16763960"
FT /id="VAR_069035"
FT VARIANT 2084
FT /note="S -> G (in CHARGES; unknown pathological
FT significance; dbSNP:rs201083157)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068142"
FT VARIANT 2091
FT /note="W -> R (in CHARGES; no effect on interaction with
FT CHD8)"
FT /evidence="ECO:0000269|PubMed:20453063,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_068409"
FT VARIANT 2096
FT /note="H -> R (in CHARGES; no effect on interaction with
FT CHD8; dbSNP:rs587783451)"
FT /evidence="ECO:0000269|PubMed:16400610,
FT ECO:0000269|PubMed:20453063"
FT /id="VAR_033249"
FT VARIANT 2097
FT /note="D -> G (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068410"
FT VARIANT 2102
FT /note="V -> I (in CHARGES; unknown pathological
FT significance; has no effect on interaction with CHD8)"
FT /evidence="ECO:0000269|PubMed:16763960,
FT ECO:0000269|PubMed:20453063, ECO:0000269|PubMed:22461308"
FT /id="VAR_068411"
FT VARIANT 2103
FT /note="G -> D (in CHARGES; unknown pathological
FT significance; dbSNP:rs794727555)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068143"
FT VARIANT 2108
FT /note="G -> R (in CHARGES and HH5; has no effect on
FT interaction with CHD8; dbSNP:rs121434343)"
FT /evidence="ECO:0000269|PubMed:18074359,
FT ECO:0000269|PubMed:20453063, ECO:0000269|PubMed:22461308,
FT ECO:0000269|PubMed:25077900"
FT /id="VAR_068144"
FT VARIANT 2108
FT /note="G -> W (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:25818041"
FT /id="VAR_078703"
FT VARIANT 2112
FT /note="T -> M (found in a patient with cleft lip and
FT palate; unknown pathological significance;
FT dbSNP:rs758409717)"
FT /evidence="ECO:0000269|PubMed:16763960,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_068412"
FT VARIANT 2116
FT /note="I -> N (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:19021638,
FT ECO:0000269|PubMed:21158681"
FT /id="VAR_068145"
FT VARIANT 2118
FT /note="N -> D"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068413"
FT VARIANT 2160
FT /note="A -> T (in dbSNP:rs61753399)"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:25077900"
FT /id="VAR_068146"
FT VARIANT 2225
FT /note="A -> T (in dbSNP:rs374408098)"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_068147"
FT VARIANT 2259
FT /note="A -> T (in CHARGES and HH5; unknown pathological
FT significance; dbSNP:rs200806228)"
FT /evidence="ECO:0000269|PubMed:22461308,
FT ECO:0000269|PubMed:25077900"
FT /id="VAR_068414"
FT VARIANT 2286
FT /note="G -> A (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068415"
FT VARIANT 2312
FT /note="K -> T (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068416"
FT VARIANT 2319
FT /note="R -> C (in CHARGES; unknown pathological
FT significance; dbSNP:rs121434341)"
FT /evidence="ECO:0000269|PubMed:16763960,
FT ECO:0000269|PubMed:21158681"
FT /id="VAR_068148"
FT VARIANT 2319
FT /note="R -> S (in CHARGES; dbSNP:rs121434341)"
FT /evidence="ECO:0000269|PubMed:16400610"
FT /id="VAR_033250"
FT VARIANT 2330
FT /note="G -> A (in dbSNP:rs77704609)"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_068149"
FT VARIANT 2366
FT /note="L -> R (in CHARGES; unknown pathological
FT significance; dbSNP:rs541818422)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068417"
FT VARIANT 2398
FT /note="R -> G (in HH5)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072968"
FT VARIANT 2415
FT /note="A -> S (in dbSNP:rs41315633)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068418"
FT VARIANT 2418
FT /note="R -> G (in CHARGES)"
FT /evidence="ECO:0000269|PubMed:22462537"
FT /id="VAR_068150"
FT VARIANT 2464
FT /note="K -> E (in CHARGES; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068419"
FT VARIANT 2488
FT /note="G -> D (in dbSNP:rs398124324)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068420"
FT VARIANT 2491
FT /note="R -> C (in dbSNP:rs755492299)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068421"
FT VARIANT 2495
FT /note="R -> S (in CHARGES; unknown pathological
FT significance; dbSNP:rs547209998)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068151"
FT VARIANT 2527
FT /note="M -> L (in dbSNP:rs192129249)"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:25077900"
FT /id="VAR_068152"
FT VARIANT 2653
FT /note="R -> Q (in dbSNP:rs747082615)"
FT /evidence="ECO:0000269|PubMed:22461308,
FT ECO:0000269|PubMed:22462537"
FT /id="VAR_068153"
FT VARIANT 2683
FT /note="P -> S (in CHARGES; unknown pathological
FT significance; dbSNP:rs201319489)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068154"
FT VARIANT 2702
FT /note="R -> C (in CHARGES; unknown pathological
FT significance; dbSNP:rs1373315351)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068155"
FT VARIANT 2725
FT /note="I -> V (in dbSNP:rs113877656)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068422"
FT VARIANT 2733
FT /note="A -> T (in CHARGES; unknown pathological
FT significance; dbSNP:rs370231679)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068156"
FT VARIANT 2750
FT /note="F -> L (in dbSNP:rs3750308)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_033251"
FT VARIANT 2780
FT /note="A -> V (in dbSNP:rs775132352)"
FT /evidence="ECO:0000269|PubMed:22461308"
FT /id="VAR_068423"
FT VARIANT 2789
FT /note="A -> T (in dbSNP:rs200140270)"
FT /evidence="ECO:0000269|PubMed:18834967,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_054625"
FT VARIANT 2806
FT /note="L -> V (in dbSNP:rs45521933)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068157"
FT VARIANT 2833
FT /note="Q -> P (in HH5)"
FT /evidence="ECO:0000269|PubMed:25077900"
FT /id="VAR_072969"
FT VARIANT 2857
FT /note="S -> A"
FT /evidence="ECO:0000269|PubMed:21158681,
FT ECO:0000269|PubMed:22461308"
FT /id="VAR_068158"
FT VARIANT 2880
FT /note="P -> L (in HH5; phenotype consistent with normosmic
FT idiopathic hypogonadotropic hypogonadism;
FT dbSNP:rs113938624)"
FT /evidence="ECO:0000269|PubMed:18834967"
FT /id="VAR_054626"
FT VARIANT 2931
FT /note="V -> M (in CHARGES; unknown pathological
FT significance; dbSNP:rs370271088)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068159"
FT VARIANT 2948
FT /note="K -> E (in HH5; phenotype consistent with Kallmann
FT syndrome; dbSNP:rs1467824778)"
FT /evidence="ECO:0000269|PubMed:18834967"
FT /id="VAR_054627"
FT VARIANT 2984
FT /note="L -> F (in dbSNP:rs184814820)"
FT /evidence="ECO:0000269|PubMed:21158681"
FT /id="VAR_068160"
FT CONFLICT 80
FT /note="M -> T (in Ref. 1; ACY35999)"
FT /evidence="ECO:0000305"
FT CONFLICT 323
FT /note="V -> A (in Ref. 1; ACY35999)"
FT /evidence="ECO:0000305"
FT CONFLICT 408
FT /note="T -> A (in Ref. 1; ACY35999)"
FT /evidence="ECO:0000305"
FT CONFLICT 915
FT /note="D -> G (in Ref. 5; BAA91116)"
FT /evidence="ECO:0000305"
FT CONFLICT 2846
FT /note="K -> E (in Ref. 1; ACY35999)"
FT /evidence="ECO:0000305"
FT STRAND 2571..2573
FT /evidence="ECO:0007829|PDB:2CKC"
FT TURN 2574..2577
FT /evidence="ECO:0007829|PDB:2CKC"
FT STRAND 2578..2580
FT /evidence="ECO:0007829|PDB:2CKC"
FT HELIX 2582..2584
FT /evidence="ECO:0007829|PDB:2V0E"
FT HELIX 2588..2597
FT /evidence="ECO:0007829|PDB:2CKC"
FT STRAND 2601..2604
FT /evidence="ECO:0007829|PDB:2CKC"
FT TURN 2612..2615
FT /evidence="ECO:0007829|PDB:2CKC"
FT HELIX 2633..2635
FT /evidence="ECO:0007829|PDB:2V0F"
FT HELIX 2638..2640
FT /evidence="ECO:0007829|PDB:2V0F"
FT TURN 2641..2644
FT /evidence="ECO:0007829|PDB:2V0F"
FT STRAND 2649..2654
FT /evidence="ECO:0007829|PDB:2V0F"
FT STRAND 2660..2663
FT /evidence="ECO:0007829|PDB:2V0F"
FT HELIX 2666..2668
FT /evidence="ECO:0007829|PDB:2V0F"
FT HELIX 2669..2675
FT /evidence="ECO:0007829|PDB:2V0F"
FT STRAND 2679..2681
FT /evidence="ECO:0007829|PDB:2V0F"
FT HELIX 2683..2692
FT /evidence="ECO:0007829|PDB:2V0F"
FT STRAND 2693..2695
FT /evidence="ECO:0007829|PDB:2V0F"
FT HELIX 2697..2702
FT /evidence="ECO:0007829|PDB:2V0F"
SQ SEQUENCE 2997 AA; 335927 MW; 5C22675169665CC0 CRC64;
MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFASL QPSLHHPSTN
QNQTKLTHFD HYNQYEQQKM HLMDQPNRMM SNTPGNGLAS PHSQYHTPPV PQVPHGGSGG
GQMGVYPGMQ NERHGQSFVD SSSMWGPRAV QVPDQIRAPY QQQQPQPQPP QPAPSGPPAQ
GHPQHMQQMG SYMARGDFSM QQHGQPQQRM SQFSQGQEGL NQGNPFIATS GPGHLSHVPQ
QSPSMAPSLR HSVQQFHHHP STALHGESVA HSPRFSPNPP QQGAVRPQTL NFSSRSQTVP
SPTINNSGQY SRYPYSNLNQ GLVNNTGMNQ NLGLTNNTPM NQSVPRYPNA VGFPSNSGQG
LMHQQPIHPS GSLNQMNTQT MHPSQPQGTY ASPPPMSPMK AMSNPAGTPP PQVRPGSAGI
PMEVGSYPNM PHPQPSHQPP GAMGIGQRNM GPRNMQQSRP FIGMSSAPRE LTGHMRPNGC
PGVGLGDPQA IQERLIPGQQ HPGQQPSFQQ LPTCPPLQPH PGLHHQSSPP HPHHQPWAQL
HPSPQNTPQK VPVHQHSPSE PFLEKPVPDM TQVSGPNAQL VKSDDYLPSI EQQPQQKKKK
KKNNHIVAED PSKGFGKDDF PGGVDNQELN RNSLDGSQEE KKKKKRSKAK KDPKEPKEPK
EKKEPKEPKT PKAPKIPKEP KEKKAKTATP KPKSSKKSSN KKPDSEASAL KKKVNKGKTE
GSENSDLDKT PPPSPPPEED EDPGVQKRRS SRQVKRKRYT EDLEFKISDE EADDADAAGR
DSPSNTSQSE QQESVDAEGP VVEKIMSSRS VKKQKESGEE VEIEEFYVKY KNFSYLHCQW
ASIEDLEKDK RIQQKIKRFK AKQGQNKFLS EIEDELFNPD YVEVDRIMDF ARSTDDRGEP
VTHYLVKWCS LPYEDSTWER RQDIDQAKIE EFEKLMSREP ETERVERPPA DDWKKSESSR
EYKNNNKLRE YQLEGVNWLL FNWYNMRNCI LADEMGLGKT IQSITFLYEI YLKGIHGPFL
VIAPLSTIPN WEREFRTWTE LNVVVYHGSQ ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI
ITTFEMILTD CPELRNIPWR CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT
VEELFSLLHF LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP
KEETIIEVEL TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK CCNHPYLING
AEEKILEEFK ETHNAESPDF QLQAMIQAAG KLVLIDKLLP KLKAGGHRVL IFSQMVRCLD
ILEDYLIQRR YPYERIDGRV RGNLRQAAID RFSKPDSDRF VFLLCTRAGG LGINLTAADT
CIIFDSDWNP QNDLQAQARC HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ
SMSGRENATN GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI
ESEGKGSTFA KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN LVIDTPRVRK
QTRLYSAVKE DELMEFSDLE SDSEEKPCAK PRRPQDKSQG YARSECFRVE KNLLVYGWGR
WTDILSHGRY KRQLTEQDVE TICRTILVYC LNHYKGDENI KSFIWDLITP TADGQTRALV
NHSGLSAPVP RGRKGKKVKA QSTQPVVQDA DWLASCNPDA LFQEDSYKKH LKHHCNKVLL
RVRMLYYLRQ EVIGDQADKI LEGADSSEAD VWIPEPFHAE VPADWWDKEA DKSLLIGVFK
HGYEKYNSMR ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR EDEDPEYKPT
RTPFKDEIDE FANSPSEDKE ESMEIHATGK HSESNAELGQ LYWPNTSTLT TRLRRLITAY
QRSYKRQQMR QEALMKTDRR RRRPREEVRA LEAEREAIIS EKRQKWTRRE EADFYRVVST
FGVIFDPVKQ QFDWNQFRAF ARLDKKSDES LEKYFSCFVA MCRRVCRMPV KPDDEPPDLS
SIIEPITEER ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGRHDRDL
LVGAAKHGVS RTDYHILNDP ELSFLDAHKN FAQNRGAGNT SSLNPLAVGF VQTPPVISSA
HIQDERVLEQ AEGKVEEPEN PAAKEKCEGK EEEEETDGSG KESKQECEAE ASSVKNELKG
VEVGADTGSK SISEKGSEED EEEKLEDDDK SEESSQPEAG AVSRGKNFDE ESNASMSTAR
DETRDGFYME DGDPSVAQLL HERTFAFSFW PKDRVMINRL DNICEAVLKG KWPVNRRQMF
DFQGLIPGYT PTTVDSPLQK RSFAELSMVG QASISGSEDI TTSPQLSKED ALNLSVPRQR
RRRRRKIEIE AERAAKRRNL MEMVAQLRES QVVSENGQEK VVDLSKASRE ATSSTSNFSS
LSSKFILPNV STPVSDAFKT QMELLQAGLS RTPTRHLLNG SLVDGEPPMK RRRGRRKNVE
GLDLLFMSHK RTSLSAEDAE VTKAFEEDIE TPPTRNIPSP GQLDPDTRIP VINLEDGTRL
VGEDAPKNKD LVEWLKLHPT YTVDMPSYVP KNADVLFSSF QKPKQKRHRC RNPNKLDINT
LTGEERVPVV NKRNGKKMGG AMAPPMKDLP RWLEENPEFA VAPDWTDIVK QSGFVPESMF
DRLLTGPVVR GEGASRRGRR PKSEIARAAA AAAAVASTSG INPLLVNSLF AGMDLTSLQN
LQNLQSLQLA GLMGFPPGLA TAATAGGDAK NPAAVLPLML PGMAGLPNVF GLGGLLNNPL
SAATGNTTTA SSQGEPEDST SKGEEKGNEN EDENKDSEKS TDAVSAADSA NGSVGAATAP
AGLPSNPLAF NPFLLSTMAP GLFYPSMFLP PGLGGLTLPG FPALAGLQNA VGSSEEKAAD
KAEGGPFKDG ETLEGSDAEE SLDKTAESSL LEDEIAQGEE LDSLDGGDEI ENNENDE
