ID   OTOAN_HUMAN             Reviewed;        1153 AA.
AC   Q7RTW8; A1L3A8; A2VDI0; B3KWU3; E9PF51; Q8NA86; Q96M76;
DT   07-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT   15-DEC-2003, sequence version 1.
DT   24-JAN-2024, entry version 161.
DE   RecName: Full=Otoancorin;
DE   Flags: Precursor;
GN   Name=OTOA;
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 MRNA] (ISOFORMS 2; 3 AND 4).
RC   TISSUE=Testis;
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15616553; DOI=10.1038/nature03187;
RA   Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA   Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA   Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA   Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA   Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA   Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA   Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA   Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA   Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA   Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA   Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA   Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA   Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA   Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA   Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA   Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA   Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA   Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA   Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA   DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA   Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA   Myers R.M., Rubin E.M., Pennacchio L.A.;
RT   "The sequence and analysis of duplication-rich human chromosome 16.";
RL   Nature 432:988-994(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
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   IDENTIFICATION (ISOFORM 1), AND INVOLVEMENT IN DFNB22.
RX   PubMed=11972037; DOI=10.1073/pnas.082515999;
RA   Zwaenepoel I., Mustapha M., Leibovici M., Verpy E., Goodyear R., Liu X.Z.,
RA   Nouaille S., Nance W.E., Kanaan M., Avraham K.B., Tekaia F., Loiselet J.,
RA   Lathrop M., Richardson G., Petit C.;
RT   "Otoancorin, an inner ear protein restricted to the interface between the
RT   apical surface of sensory epithelia and their overlying acellular gels, is
RT   defective in autosomal recessive deafness DFNB22.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:6240-6245(2002).
RN   [5]
RP   GLYCOSYLATION AT ASN-211.
RX   PubMed=19139490; DOI=10.1074/mcp.m800504-mcp200;
RA   Jia W., Lu Z., Fu Y., Wang H.P., Wang L.H., Chi H., Yuan Z.F., Zheng Z.B.,
RA   Song L.N., Han H.H., Liang Y.M., Wang J.L., Cai Y., Zhang Y.K., Deng Y.L.,
RA   Ying W.T., He S.M., Qian X.H.;
RT   "A strategy for precise and large scale identification of core fucosylated
RT   glycoproteins.";
RL   Mol. Cell. Proteomics 8:913-923(2009).
CC   -!- FUNCTION: May act as an adhesion molecule.
CC   -!- SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000305}; Lipid-anchor,
CC       GPI-anchor {ECO:0000305}; Extracellular side {ECO:0000305}. Secreted,
CC       extracellular space, extracellular matrix {ECO:0000305}. Note=At the
CC       interface between the apical surface of the epithelia and the overlying
CC       acellular gel of the tectorial and otoconial membranes. {ECO:0000250}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=5;
CC       Name=1;
CC         IsoId=Q7RTW8-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q7RTW8-2; Sequence=VSP_012212, VSP_012213;
CC       Name=3;
CC         IsoId=Q7RTW8-3; Sequence=VSP_012211, VSP_012214;
CC       Name=4;
CC         IsoId=Q7RTW8-4; Sequence=VSP_043345, VSP_043346, VSP_043347;
CC       Name=5;
CC         IsoId=Q7RTW8-5; Sequence=VSP_043347;
CC   -!- DISEASE: Deafness, autosomal recessive, 22 (DFNB22) [MIM:607039]: A
CC       form of non-syndromic sensorineural hearing loss. Sensorineural
CC       deafness results from damage to the neural receptors of the inner ear,
CC       the nerve pathways to the brain, or the area of the brain that receives
CC       sound information. {ECO:0000269|PubMed:11972037}. Note=The disease is
CC       caused by variants affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the stereocilin family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AK057335; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; AK057335; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AK093062; BAC04040.1; -; mRNA.
DR   EMBL; AK125840; BAG54255.1; -; mRNA.
DR   EMBL; AC092719; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC129992; AAI29993.1; -; mRNA.
DR   EMBL; BC129993; AAI29994.1; -; mRNA.
DR   EMBL; BK000099; DAA00022.1; -; Genomic_DNA.
DR   CCDS; CCDS10600.2; -. [Q7RTW8-5]
DR   CCDS; CCDS32403.1; -. [Q7RTW8-2]
DR   CCDS; CCDS53994.1; -. [Q7RTW8-4]
DR   RefSeq; NP_001155155.1; NM_001161683.1. [Q7RTW8-4]
DR   RefSeq; NP_733764.1; NM_170664.2. [Q7RTW8-2]
DR   RefSeq; XP_011544049.1; XM_011545747.2.
DR   AlphaFoldDB; Q7RTW8; -.
DR   BioGRID; 126968; 18.
DR   IntAct; Q7RTW8; 1.
DR   STRING; 9606.ENSP00000496564; -.
DR   GlyCosmos; Q7RTW8; 12 sites, No reported glycans.
DR   GlyGen; Q7RTW8; 12 sites.
DR   iPTMnet; Q7RTW8; -.
DR   PhosphoSitePlus; Q7RTW8; -.
DR   BioMuta; OTOA; -.
DR   DMDM; 56404568; -.
DR   jPOST; Q7RTW8; -.
DR   MassIVE; Q7RTW8; -.
DR   PaxDb; 9606-ENSP00000373610; -.
DR   PeptideAtlas; Q7RTW8; -.
DR   Antibodypedia; 50672; 99 antibodies from 20 providers.
DR   DNASU; 146183; -.
DR   Ensembl; ENST00000286149.8; ENSP00000286149.4; ENSG00000155719.18. [Q7RTW8-1]
DR   Ensembl; ENST00000388956.8; ENSP00000373608.4; ENSG00000155719.18. [Q7RTW8-4]
DR   Ensembl; ENST00000388957.3; ENSP00000373609.3; ENSG00000155719.18. [Q7RTW8-2]
DR   Ensembl; ENST00000388958.8; ENSP00000373610.3; ENSG00000155719.18. [Q7RTW8-5]
DR   Ensembl; ENST00000646100.2; ENSP00000496564.2; ENSG00000155719.18. [Q7RTW8-5]
DR   GeneID; 146183; -.
DR   KEGG; hsa:146183; -.
DR   MANE-Select; ENST00000646100.2; ENSP00000496564.2; NM_144672.4; NP_653273.3. [Q7RTW8-5]
DR   UCSC; uc002djh.3; human. [Q7RTW8-1]
DR   AGR; HGNC:16378; -.
DR   CTD; 146183; -.
DR   DisGeNET; 146183; -.
DR   GeneCards; OTOA; -.
DR   GeneReviews; OTOA; -.
DR   HGNC; HGNC:16378; OTOA.
DR   HPA; ENSG00000155719; Group enriched (lymphoid tissue, testis).
DR   MalaCards; OTOA; -.
DR   MIM; 607038; gene.
DR   MIM; 607039; phenotype.
DR   neXtProt; NX_Q7RTW8; -.
DR   OpenTargets; ENSG00000155719; -.
DR   Orphanet; 90636; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR   PharmGKB; PA38403; -.
DR   VEuPathDB; HostDB:ENSG00000155719; -.
DR   eggNOG; ENOG502QU5H; Eukaryota.
DR   GeneTree; ENSGT00950000182957; -.
DR   HOGENOM; CLU_291462_0_0_1; -.
DR   InParanoid; Q7RTW8; -.
DR   OMA; QYFENNF; -.
DR   OrthoDB; 3679027at2759; -.
DR   PhylomeDB; Q7RTW8; -.
DR   TreeFam; TF336607; -.
DR   PathwayCommons; Q7RTW8; -.
DR   Reactome; R-HSA-163125; Post-translational modification: synthesis of GPI-anchored proteins.
DR   SignaLink; Q7RTW8; -.
DR   BioGRID-ORCS; 146183; 15 hits in 1141 CRISPR screens.
DR   ChiTaRS; OTOA; human.
DR   GenomeRNAi; 146183; -.
DR   Pharos; Q7RTW8; Tbio.
DR   PRO; PR:Q7RTW8; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   RNAct; Q7RTW8; Protein.
DR   Bgee; ENSG00000155719; Expressed in primordial germ cell in gonad and 70 other cell types or tissues.
DR   ExpressionAtlas; Q7RTW8; baseline and differential.
DR   GO; GO:0016324; C:apical plasma membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0009986; C:cell surface; IBA:GO_Central.
DR   GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0098552; C:side of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0007160; P:cell-matrix adhesion; IBA:GO_Central.
DR   GO; GO:0007605; P:sensory perception of sound; IEA:UniProtKB-KW.
DR   GO; GO:0019226; P:transmission of nerve impulse; IEA:Ensembl.
DR   InterPro; IPR026664; Stereocilin-rel.
DR   PANTHER; PTHR23412:SF18; OTOANCORIN; 1.
DR   PANTHER; PTHR23412; STEREOCILIN RELATED; 1.
DR   Genevisible; Q7RTW8; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell membrane; Deafness; Extracellular matrix;
KW   Glycoprotein; GPI-anchor; Hearing; Lipoprotein; Membrane;
KW   Non-syndromic deafness; Reference proteome; Secreted; Signal.
FT   SIGNAL          1..22
FT                   /evidence="ECO:0000255"
FT   CHAIN           23..1130
FT                   /note="Otoancorin"
FT                   /id="PRO_0000021971"
FT   PROPEP          1131..1153
FT                   /note="Removed in mature form"
FT                   /evidence="ECO:0000255"
FT                   /id="PRO_0000021972"
FT   REGION          1109..1128
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1114..1128
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   LIPID           1130
FT                   /note="GPI-anchor amidated alanine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        156
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        211
FT                   /note="N-linked (GlcNAc...) (complex) asparagine"
FT                   /evidence="ECO:0000269|PubMed:19139490"
FT   CARBOHYD        244
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        289
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        321
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        394
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        398
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        460
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        544
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        812
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        911
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        974
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         1..728
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_012211"
FT   VAR_SEQ         1..338
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_012212"
FT   VAR_SEQ         1..9
FT                   /note="MSQEPTTYS -> MGNSITYRD (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_043345"
FT   VAR_SEQ         10..88
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_043346"
FT   VAR_SEQ         328..341
FT                   /note="Missing (in isoform 4 and isoform 5)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_043347"
FT   VAR_SEQ         339..341
FT                   /note="PKM -> MFR (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_012213"
FT   VAR_SEQ         729..750
FT                   /note="DCPDLNPEQKAAVRLKLLGQYG -> MNVCKDSPRNKVNQKSKVMEKK (in
FT                   isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_012214"
FT   CONFLICT        1039
FT                   /note="E -> A (in Ref. 3; AAI29994)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1153 AA;  128533 MW;  D23E5767718021D7 CRC64;
     MSQEPTTYSL FLFLFLSHGV SSYTVPNSRQ DLHPLLQNMA EEIIDGSYLN ALLDLIQFQS
     SHVWTDDLSH RVLAYLNSRN VAFTIPSLQA AVENHLEQRL HQPQKLLEDL RKTDAQQFRT
     AMKCLLEDKK DGLDLKDIII DLGEIRERAL QSPGVNRSLF LITLERCFQM LNSLECVEIL
     GKVLRGSSGS FLQPDITERL PRDLREDAFK NLSAVFKDLY DKTSAHSQRA LYSWMTGILQ
     TSSNATDDSA SWVSAEHLWV LGRYMVHLSF EEITKISPIE IGLFISYDNA TKQLDMVYDI
     TPELAQAFLE RISSSNFNMR NTSTIHRQAH ELWALEPFPK MLGLLVCFYN DLELLDATVA
     QVLLYQMIKC SHLRGFQAGV QKLKAELLDI AMENQTLNET LGSLSDAVVG LTYSQLESLS
     PEAVHGAIST LNQVSGWAKS QVIILSAKYL AHEKVLSFYN VSQMGALLAG VSTQAFCSMK
     RKDISQVLRS AVSQYVSDLS PAQQQGILSK MVQAEDTAPG IVEIQGAFFK EVSLFDLRRQ
     PGFNSTVLKD KELGRSQALF LYELLLKTTR RPEELLSAGQ LVKGVTCSHI DAMSTDFFLA
     HFQDFQNNFA LLSPYQVNCL AWKYWEVSRL SMPPFLLAAL PARYLASVPA SQCVPFLISL
     GKSWLDSLVL DSHKKTSVLR KVQQCLDDSI ADEYTVDIMG NLLCHLPAAI IDRGISPRAW
     ATALHGLRDC PDLNPEQKAA VRLKLLGQYG LPQHWTAETT KDLGPFLVLF SGDELSSIAT
     KFPEILLQAA SKMARTLPTK EFLWAVFQSV RNSSDKIPSY DPMPGCHGVV APSSDDIFKL
     AEANACWALE DLRCMEEDTF IRTVELLGAV QGFSRPQLMT LKEKAIQVWD MPSYWREHHI
     VSLGRIALAL NESELEQLDL SSIDTVASLS WQTEWTPGQA ESILQGYLDD SGYSIQDLKS
     FHLVGLGATL CAINITEIPL IKISEFRVVV ARIGTLLCST HVLAEFKRKA EVVFGDPTEW
     TSSVLQELGT IAAGLTKAEL RMLDKDLMPY FQPSAIKCLP DEIFKELSAE QIASLGPENA
     AAVTHAQRRR LSPLQLQSLQ QALDGAKTHS WQDAPASAGP TRTSSSRSPA GALQSWGLWL
     GCPLLVLMAK LLW
//