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 27-MAR-2024, entry version 215. 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; 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; Q96A32: MYL11; NbExp=3; IntAct=EBI-720609, EBI-1390771; CC O76024; Q9H1R3: MYLK2; NbExp=3; IntAct=EBI-720609, EBI-356910; 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; Q8WUY3: PRUNE2; NbExp=3; IntAct=EBI-720609, EBI-743880; 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; 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 O76024; Q9BQ29; NbExp=3; IntAct=EBI-720609, EBI-22013570; 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. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 128. DR ELM; O76024; -. DR IntAct; O76024; 480. 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 GlyCosmos; O76024; 2 sites, 4 glycans. DR GlyGen; O76024; 3 sites, 4 N-linked glycans (2 sites), 1 O-linked glycan (1 site). 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; 9606-ENSP00000226760; -. DR PeptideAtlas; O76024; -. DR ProteomicsDB; 50349; -. DR Pumba; O76024; -. DR Antibodypedia; 22653; 204 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 AGR; HGNC:12762; -. 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; 98991; Early-onset nuclear cataract. DR Orphanet; 90635; Rare autosomal dominant non-syndromic sensorineural deafness type DFNA. 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; QFARWFM; -. DR OrthoDB; 3019338at2759; -. 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; 8 hits in 1150 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 191 other cell types or tissues. DR ExpressionAtlas; O76024; baseline and differential. 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; IDA:BHF-UCL. DR GO; GO:0030141; C:secretory granule; IDA:UniProtKB. DR GO; GO:0030672; C:synaptic vesicle membrane; IEA:Ensembl. 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:0036503; P:ERAD pathway; IDA:ParkinsonsUK-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: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:0017148; P:negative regulation of translation; IEA:Ensembl. 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:1904294; P:positive regulation of ERAD pathway; IEA:Ensembl. 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:0007601; P:visual perception; IMP:BHF-UCL. DR Gene3D; 1.25.40.10; Tetratricopeptide repeat domain; 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; WOLFRAMIN; 1. DR PANTHER; PTHR13098:SF3; WOLFRAMIN; 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. DR Genevisible; O76024; HS. 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; uncertain significance; also found FT in a patient with type 2 diabetes; uncertain 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; uncertain 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; 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 //