OTOAN_HUMAN
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 03-AUG-2022, entry version 154.
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; 17.
DR IntAct; Q7RTW8; 1.
DR STRING; 9606.ENSP00000373610; -.
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; Q7RTW8; -.
DR PeptideAtlas; Q7RTW8; -.
DR PRIDE; Q7RTW8; -.
DR Antibodypedia; 50672; 83 antibodies from 19 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 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; 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; EQHGLPQ; -.
DR OrthoDB; 86428at2759; -.
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; 14 hits in 1065 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 left testis and 69 other tissues.
DR ExpressionAtlas; Q7RTW8; baseline and differential.
DR Genevisible; Q7RTW8; HS.
DR GO; GO:0031225; C:anchored component of membrane; IEA:UniProtKB-KW.
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: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; IPR026663; Otoancorin.
DR InterPro; IPR026664; Stereocilin-rel.
DR PANTHER; PTHR23412; PTHR23412; 1.
DR PANTHER; PTHR23412:SF18; PTHR23412:SF18; 1.
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
