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GASP2_HUMAN
ID   GASP2_HUMAN             Reviewed;         838 AA.
AC   Q96D09; D3DXA0; Q8NAB4;
DT   30-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2001, sequence version 1.
DT   03-AUG-2022, entry version 161.
DE   RecName: Full=G-protein coupled receptor-associated sorting protein 2;
DE            Short=GASP-2;
GN   Name=GPRASP2;
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 [LARGE SCALE GENOMIC DNA].
RX   PubMed=15772651; DOI=10.1038/nature03440;
RA   Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA   Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA   Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA   Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA   Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA   Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA   Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA   Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA   Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA   Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA   Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA   Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA   Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA   Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA   Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA   Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA   Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA   Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA   Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA   Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA   Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA   Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA   Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA   Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA   Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA   Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA   Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA   Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA   Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA   Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA   McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA   Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA   Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA   Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA   Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA   Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA   Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA   Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA   Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA   Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA   d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA   Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA   Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA   Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA   Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA   Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA   Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA   Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA   Rogers J., Bentley D.R.;
RT   "The DNA sequence of the human X chromosome.";
RL   Nature 434:325-337(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Lung, and Ovary;
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 657-838.
RC   TISSUE=Kidney, and Spleen;
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   [5]
RP   FUNCTION, TISSUE SPECIFICITY, AND INTERACTION WITH G PROTEIN-COUPLED
RP   RECEPTORS.
RX   PubMed=15086532; DOI=10.1111/j.1471-4159.2004.02411.x;
RA   Simonin F., Karcher P., Boeuf J.J.-M., Matifas A., Kieffer B.L.;
RT   "Identification of a novel family of G protein-coupled receptor associated
RT   sorting proteins.";
RL   J. Neurochem. 89:766-775(2004).
RN   [6]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=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   [7]
RP   INVOLVEMENT IN DFNX7, AND VARIANT DFNX7 ASN-573.
RX   PubMed=28096187; DOI=10.1136/jmedgenet-2016-104320;
RA   Xing G., Yao J., Liu C., Wei Q., Qian X., Wu L., Lu Y., Cao X.;
RT   "GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic
RT   hearing loss.";
RL   J. Med. Genet. 54:426-430(2017).
CC   -!- FUNCTION: May play a role in regulation of a variety of G-protein
CC       coupled receptors. {ECO:0000269|PubMed:15086532}.
CC   -!- SUBUNIT: Interacts with cytoplasmic tails of a variety of G-protein
CC       coupled receptors such as muscarinic acetylcholine receptor M1/CHRM1
CC       and calcitonin receptor/CALCR. {ECO:0000269|PubMed:15086532}.
CC   -!- INTERACTION:
CC       Q96D09; Q969G5: CAVIN3; NbExp=3; IntAct=EBI-473189, EBI-3893101;
CC       Q96D09; Q9HC52: CBX8; NbExp=6; IntAct=EBI-473189, EBI-712912;
CC       Q96D09; Q8IYE0: CCDC146; NbExp=3; IntAct=EBI-473189, EBI-10749669;
CC       Q96D09; Q8IYR0: CFAP206; NbExp=6; IntAct=EBI-473189, EBI-749051;
CC       Q96D09; Q8N7B9-2: EFCAB3; NbExp=3; IntAct=EBI-473189, EBI-11958551;
CC       Q96D09; A0A0S2Z6B0: EFHA1; NbExp=3; IntAct=EBI-473189, EBI-16439972;
CC       Q96D09; Q9H5Z6-2: FAM124B; NbExp=3; IntAct=EBI-473189, EBI-11986315;
CC       Q96D09; O94868-3: FCHSD2; NbExp=3; IntAct=EBI-473189, EBI-11958845;
CC       Q96D09; Q9NU39: FOXD4L1; NbExp=3; IntAct=EBI-473189, EBI-11320806;
CC       Q96D09; Q8TAE8: GADD45GIP1; NbExp=3; IntAct=EBI-473189, EBI-372506;
CC       Q96D09; Q5SUL5: HLA-A; NbExp=3; IntAct=EBI-473189, EBI-8561769;
CC       Q96D09; P42858: HTT; NbExp=5; IntAct=EBI-473189, EBI-466029;
CC       Q96D09; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-473189, EBI-11742507;
CC       Q96D09; Q8NHZ7: MBD3L2; NbExp=3; IntAct=EBI-473189, EBI-11989378;
CC       Q96D09; Q8WWB5: PIH1D2; NbExp=3; IntAct=EBI-473189, EBI-10232538;
CC       Q96D09; Q5JTB6: PLAC9; NbExp=3; IntAct=EBI-473189, EBI-3923605;
CC       Q96D09; O43395: PRPF3; NbExp=3; IntAct=EBI-473189, EBI-744322;
CC       Q96D09; Q9UJ41-4: RABGEF1; NbExp=3; IntAct=EBI-473189, EBI-14093916;
CC       Q96D09; Q96EN9: REX1BD; NbExp=3; IntAct=EBI-473189, EBI-745810;
CC       Q96D09; Q8TCX5: RHPN1; NbExp=3; IntAct=EBI-473189, EBI-746325;
CC       Q96D09; O76064: RNF8; NbExp=3; IntAct=EBI-473189, EBI-373337;
CC       Q96D09; Q86UD0: SAPCD2; NbExp=3; IntAct=EBI-473189, EBI-2561646;
CC       Q96D09; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-473189, EBI-9090795;
CC       Q96D09; Q9BYH1-5: SEZ6L; NbExp=3; IntAct=EBI-473189, EBI-12012146;
CC       Q96D09; Q9H788: SH2D4A; NbExp=3; IntAct=EBI-473189, EBI-747035;
CC       Q96D09; Q8WXA9: SREK1; NbExp=3; IntAct=EBI-473189, EBI-1044237;
CC       Q96D09; Q969Z0: TBRG4; NbExp=3; IntAct=EBI-473189, EBI-702328;
CC       Q96D09; Q9BQ70: TCF25; NbExp=8; IntAct=EBI-473189, EBI-745182;
CC       Q96D09; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-473189, EBI-9090990;
CC       Q96D09; Q99757: TXN2; NbExp=4; IntAct=EBI-473189, EBI-2932492;
CC       Q96D09; A0A024R8A9: USP20; NbExp=3; IntAct=EBI-473189, EBI-14096082;
CC       Q96D09; P61981: YWHAG; NbExp=3; IntAct=EBI-473189, EBI-359832;
CC       Q96D09; Q53FD0-2: ZC2HC1C; NbExp=3; IntAct=EBI-473189, EBI-14104088;
CC       Q96D09; Q68DK2-5: ZFYVE26; NbExp=3; IntAct=EBI-473189, EBI-8656416;
CC       Q96D09; A0A0S2Z5X4: ZNF688; NbExp=3; IntAct=EBI-473189, EBI-16429014;
CC       Q96D09; Q5W150; NbExp=3; IntAct=EBI-473189, EBI-10248148;
CC   -!- TISSUE SPECIFICITY: Expressed in the brain.
CC       {ECO:0000269|PubMed:15086532}.
CC   -!- DISEASE: Deafness, X-linked, 7 (DFNX7) [MIM:301018]: A congenital form
CC       of bilateral mixed or conductive hearing loss, which is progressive in
CC       some patients. Additional clinical features include ear anomalies and
CC       facial dysmorphism with bilateral ptosis.
CC       {ECO:0000269|PubMed:28096187}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the GPRASP family. {ECO:0000305}.
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DR   EMBL; AL035427; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471190; EAW54727.1; -; Genomic_DNA.
DR   EMBL; CH471190; EAW54728.1; -; Genomic_DNA.
DR   EMBL; CH471190; EAW54729.1; -; Genomic_DNA.
DR   EMBL; BC013576; AAH13576.1; -; mRNA.
DR   EMBL; BC036772; AAH36772.1; -; mRNA.
DR   EMBL; AK092981; -; NOT_ANNOTATED_CDS; mRNA.
DR   CCDS; CCDS14501.1; -.
DR   RefSeq; NP_001004051.1; NM_001004051.3.
DR   RefSeq; NP_001171803.1; NM_001184874.2.
DR   RefSeq; NP_001171804.1; NM_001184875.2.
DR   RefSeq; NP_001171805.1; NM_001184876.2.
DR   RefSeq; NP_001186747.1; NM_001199818.1.
DR   RefSeq; NP_612446.1; NM_138437.5.
DR   AlphaFoldDB; Q96D09; -.
DR   SMR; Q96D09; -.
DR   BioGRID; 125399; 116.
DR   BioGRID; 1529361; 2.
DR   IntAct; Q96D09; 75.
DR   MINT; Q96D09; -.
DR   STRING; 9606.ENSP00000437872; -.
DR   iPTMnet; Q96D09; -.
DR   PhosphoSitePlus; Q96D09; -.
DR   BioMuta; GPRASP2; -.
DR   DMDM; 74751808; -.
DR   EPD; Q96D09; -.
DR   jPOST; Q96D09; -.
DR   MassIVE; Q96D09; -.
DR   MaxQB; Q96D09; -.
DR   PaxDb; Q96D09; -.
DR   PeptideAtlas; Q96D09; -.
DR   PRIDE; Q96D09; -.
DR   ProteomicsDB; 76244; -.
DR   Antibodypedia; 351; 197 antibodies from 28 providers.
DR   DNASU; 114928; -.
DR   Ensembl; ENST00000332262.10; ENSP00000339057.3; ENSG00000158301.20.
DR   Ensembl; ENST00000483720.7; ENSP00000507692.1; ENSG00000158301.20.
DR   Ensembl; ENST00000486814.2; ENSP00000508139.1; ENSG00000158301.20.
DR   Ensembl; ENST00000535209.6; ENSP00000437394.1; ENSG00000158301.20.
DR   Ensembl; ENST00000543253.6; ENSP00000437872.1; ENSG00000158301.20.
DR   GeneID; 100528062; -.
DR   GeneID; 114928; -.
DR   KEGG; hsa:100528062; -.
DR   KEGG; hsa:114928; -.
DR   MANE-Select; ENST00000483720.7; ENSP00000507692.1; NM_001004051.4; NP_001004051.1.
DR   UCSC; uc004ejm.3; human.
DR   CTD; 100528062; -.
DR   CTD; 114928; -.
DR   DisGeNET; 100528062; -.
DR   DisGeNET; 114928; -.
DR   GeneCards; GPRASP2; -.
DR   HGNC; HGNC:25169; GPRASP2.
DR   HPA; ENSG00000158301; Low tissue specificity.
DR   MalaCards; GPRASP2; -.
DR   MIM; 300969; gene.
DR   MIM; 301018; phenotype.
DR   neXtProt; NX_Q96D09; -.
DR   OpenTargets; ENSG00000158301; -.
DR   Orphanet; 500188; X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome.
DR   PharmGKB; PA134976848; -.
DR   VEuPathDB; HostDB:ENSG00000158301; -.
DR   eggNOG; ENOG502S6CE; Eukaryota.
DR   GeneTree; ENSGT00940000162726; -.
DR   HOGENOM; CLU_017437_0_0_1; -.
DR   InParanoid; Q96D09; -.
DR   OMA; WPREEAN; -.
DR   OrthoDB; 860703at2759; -.
DR   PhylomeDB; Q96D09; -.
DR   TreeFam; TF335652; -.
DR   PathwayCommons; Q96D09; -.
DR   SignaLink; Q96D09; -.
DR   BioGRID-ORCS; 100528062; 11 hits in 159 CRISPR screens.
DR   BioGRID-ORCS; 114928; 11 hits in 698 CRISPR screens.
DR   GeneWiki; GPRASP2; -.
DR   Pharos; Q96D09; Tbio.
DR   PRO; PR:Q96D09; -.
DR   Proteomes; UP000005640; Chromosome X.
DR   RNAct; Q96D09; protein.
DR   Bgee; ENSG00000158301; Expressed in endothelial cell and 181 other tissues.
DR   Genevisible; Q96D09; HS.
DR   GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR   GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR   GO; GO:0005634; C:nucleus; IDA:MGI.
DR   GO; GO:0001540; F:amyloid-beta binding; IEA:Ensembl.
DR   GO; GO:0001664; F:G protein-coupled receptor binding; IDA:MGI.
DR   GO; GO:0061484; P:hematopoietic stem cell homeostasis; IEA:Ensembl.
DR   Gene3D; 1.25.10.10; -; 1.
DR   InterPro; IPR011989; ARM-like.
DR   InterPro; IPR006911; ARM-rpt_dom.
DR   InterPro; IPR016024; ARM-type_fold.
DR   InterPro; IPR043374; BHLHb9/GASP-1/GASP-2.
DR   PANTHER; PTHR46414; PTHR46414; 1.
DR   Pfam; PF04826; Arm_2; 1.
DR   SUPFAM; SSF48371; SSF48371; 1.
PE   1: Evidence at protein level;
KW   Deafness; Disease variant; Phosphoprotein; Reference proteome.
FT   CHAIN           1..838
FT                   /note="G-protein coupled receptor-associated sorting
FT                   protein 2"
FT                   /id="PRO_0000239053"
FT   REGION          1..122
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          218..292
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          349..368
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          531..552
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        10..35
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        223..242
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        244..258
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        275..292
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         282
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q8BUY8"
FT   MOD_RES         284
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q8BUY8"
FT   VARIANT         173
FT                   /note="R -> S (in dbSNP:rs6616421)"
FT                   /id="VAR_049265"
FT   VARIANT         573
FT                   /note="A -> N (in DFNX7; requires 2 nucleotide
FT                   substitutions)"
FT                   /evidence="ECO:0000269|PubMed:28096187"
FT                   /id="VAR_081645"
SQ   SEQUENCE   838 AA;  93773 MW;  2D30515916B7EACE CRC64;
     MTGAEIEPSA QAKPEKKAGE EVIAGPEREN DVPLVVRPKV RTQATTGARP KTETKSVPAA
     RPKTEAQAMS GARPKTEVQV MGGARPKTEA QGITGARPKT DARAVGGARS KTDAKAIPGA
     RPKDEAQAWA QSEFGTEAVS QAEGVSQTNA VAWPLATAES GSVTKSKGLS MDRELVNVDA
     ETFPGTQGQK GIQPWFGPGE ETNMGSWCYS RPRAREEASN ESGFWSADET STASSFWTGE
     ETSVRSWPRE ESNTRSRHRA KHQTNPRSRP RSKQEAYVDS WSGSEDEASN PFSFWVGENT
     NNLFRPRVRE EANIRSKLRT NREDCFESES EDEFYKQSWV LPGEEANSRF RHRDKEDPNT
     ALKLRAQKDV DSDRVKQEPR FEEEVIIGSW FWAEKEASLE GGASAICESE PGTEEGAIGG
     SAYWAEEKSS LGAVAREEAK PESEEEAIFG SWFWDRDEAC FDLNPCPVYK VSDRFRDAAE
     ELNASSRPQT WDEVTVEFKP GLFHGVGFRS TSPFGIPEEA SEMLEAKPKN LELSPEGEEQ
     ESLLQPDQPS PEFTFQYDPS YRSVREIREH LRARESAESE SWSCSCIQCE LKIGSEEFEE
     FLLLMDKIRD PFIHEISKIA MGMRSASQFT RDFIRDSGVV SLIETLLNYP SSRVRTSFLE
     NMIHMAPPYP NLNMIETFIC QVCEETLAHS VDSLEQLTGI RMLRHLTMTI DYHTLIANYM
     SGFLSLLTTA NARTKFHVLK MLLNLSENPA VAKKLFSAKA LSIFVGLFNI EETNDNIQIV
     IKMFQNISNI IKSGKMSLID DDFSLEPLIS AFREFEELAK QLQAQIDNQN DPEVGQQS
 
 
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