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Q7RTW8 (OTOAN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Otoancorin
Gene names
Name:OTOA
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1153 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May act as an adhesion molecule.

Subcellular location

Apical cell membrane; Lipid-anchorGPI-anchor; Extracellular side Probable. Secretedextracellular spaceextracellular matrix Probable. Note: At the interface between the apical surface of the epithelia and the overlying acellular gel of the tectorial and otoconial membranes By similarity.

Involvement in disease

Deafness, autosomal recessive, 22 (DFNB22) [MIM:607039]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the stereocilin family.

Sequence caution

The sequence AK057335 differs from that shown. Reason: Frameshift at position 1139.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7RTW8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q7RTW8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-338: Missing.
     339-341: PKM → MFR
Isoform 3 (identifier: Q7RTW8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-728: Missing.
     729-750: DCPDLNPEQKAAVRLKLLGQYG → MNVCKDSPRNKVNQKSKVMEKK
Isoform 4 (identifier: Q7RTW8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MSQEPTTYS → MGNSITYRD
     10-88: Missing.
     328-341: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q7RTW8-5)

The sequence of this isoform differs from the canonical sequence as follows:
     328-341: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 11301108Otoancorin
PRO_0000021971
Propeptide1131 – 115323Removed in mature form Potential
PRO_0000021972

Amino acid modifications

Lipidation11301GPI-anchor amidated alanine Potential
Glycosylation1561N-linked (GlcNAc...) Potential
Glycosylation2111N-linked (GlcNAc...) (complex) Ref.5
Glycosylation2441N-linked (GlcNAc...) Potential
Glycosylation2891N-linked (GlcNAc...) Potential
Glycosylation3211N-linked (GlcNAc...) Potential
Glycosylation3941N-linked (GlcNAc...) Potential
Glycosylation3981N-linked (GlcNAc...) Potential
Glycosylation4601N-linked (GlcNAc...) Potential
Glycosylation5441N-linked (GlcNAc...) Potential
Glycosylation8121N-linked (GlcNAc...) Potential
Glycosylation9111N-linked (GlcNAc...) Potential
Glycosylation9741N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 728728Missing in isoform 3.
VSP_012211
Alternative sequence1 – 338338Missing in isoform 2.
VSP_012212
Alternative sequence1 – 99MSQEPTTYS → MGNSITYRD in isoform 4.
VSP_043345
Alternative sequence10 – 8879Missing in isoform 4.
VSP_043346
Alternative sequence328 – 34114Missing in isoform 4 and isoform 5.
VSP_043347
Alternative sequence339 – 3413PKM → MFR in isoform 2.
VSP_012213
Alternative sequence729 – 75022DCPDL…LGQYG → MNVCKDSPRNKVNQKSKVME KK in isoform 3.
VSP_012214

Experimental info

Sequence conflict10391E → A in AAI29994. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 15, 2003. Version 1.
Checksum: D23E5767718021D7

FASTA1,153128,533
        10         20         30         40         50         60 
MSQEPTTYSL FLFLFLSHGV SSYTVPNSRQ DLHPLLQNMA EEIIDGSYLN ALLDLIQFQS 

        70         80         90        100        110        120 
SHVWTDDLSH RVLAYLNSRN VAFTIPSLQA AVENHLEQRL HQPQKLLEDL RKTDAQQFRT 

       130        140        150        160        170        180 
AMKCLLEDKK DGLDLKDIII DLGEIRERAL QSPGVNRSLF LITLERCFQM LNSLECVEIL 

       190        200        210        220        230        240 
GKVLRGSSGS FLQPDITERL PRDLREDAFK NLSAVFKDLY DKTSAHSQRA LYSWMTGILQ 

       250        260        270        280        290        300 
TSSNATDDSA SWVSAEHLWV LGRYMVHLSF EEITKISPIE IGLFISYDNA TKQLDMVYDI 

       310        320        330        340        350        360 
TPELAQAFLE RISSSNFNMR NTSTIHRQAH ELWALEPFPK MLGLLVCFYN DLELLDATVA 

       370        380        390        400        410        420 
QVLLYQMIKC SHLRGFQAGV QKLKAELLDI AMENQTLNET LGSLSDAVVG LTYSQLESLS 

       430        440        450        460        470        480 
PEAVHGAIST LNQVSGWAKS QVIILSAKYL AHEKVLSFYN VSQMGALLAG VSTQAFCSMK 

       490        500        510        520        530        540 
RKDISQVLRS AVSQYVSDLS PAQQQGILSK MVQAEDTAPG IVEIQGAFFK EVSLFDLRRQ 

       550        560        570        580        590        600 
PGFNSTVLKD KELGRSQALF LYELLLKTTR RPEELLSAGQ LVKGVTCSHI DAMSTDFFLA 

       610        620        630        640        650        660 
HFQDFQNNFA LLSPYQVNCL AWKYWEVSRL SMPPFLLAAL PARYLASVPA SQCVPFLISL 

       670        680        690        700        710        720 
GKSWLDSLVL DSHKKTSVLR KVQQCLDDSI ADEYTVDIMG NLLCHLPAAI IDRGISPRAW 

       730        740        750        760        770        780 
ATALHGLRDC PDLNPEQKAA VRLKLLGQYG LPQHWTAETT KDLGPFLVLF SGDELSSIAT 

       790        800        810        820        830        840 
KFPEILLQAA SKMARTLPTK EFLWAVFQSV RNSSDKIPSY DPMPGCHGVV APSSDDIFKL 

       850        860        870        880        890        900 
AEANACWALE DLRCMEEDTF IRTVELLGAV QGFSRPQLMT LKEKAIQVWD MPSYWREHHI 

       910        920        930        940        950        960 
VSLGRIALAL NESELEQLDL SSIDTVASLS WQTEWTPGQA ESILQGYLDD SGYSIQDLKS 

       970        980        990       1000       1010       1020 
FHLVGLGATL CAINITEIPL IKISEFRVVV ARIGTLLCST HVLAEFKRKA EVVFGDPTEW 

      1030       1040       1050       1060       1070       1080 
TSSVLQELGT IAAGLTKAEL RMLDKDLMPY FQPSAIKCLP DEIFKELSAE QIASLGPENA 

      1090       1100       1110       1120       1130       1140 
AAVTHAQRRR LSPLQLQSLQ QALDGAKTHS WQDAPASAGP TRTSSSRSPA GALQSWGLWL 

      1150 
GCPLLVLMAK LLW 

« Hide

Isoform 2 [UniParc].

Checksum: A8EFF6FA5850C894
Show »

FASTA81589,914
Isoform 3 [UniParc].

Checksum: A17635E55BA47451
Show »

FASTA42546,980
Isoform 4 [UniParc].

Checksum: 816E440E9023D5D9
Show »

FASTA1,060117,880
Isoform 5 [UniParc].

Checksum: 3B8E705089670E8C
Show »

FASTA1,139126,854

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
Tissue: Testis.
[2]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
[4]"Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22."
Zwaenepoel I., Mustapha M., Leibovici M., Verpy E., Goodyear R., Liu X.Z., Nouaille S., Nance W.E., Kanaan M., Avraham K.B., Tekaia F., Loiselet J., Lathrop M., Richardson G., Petit C.
Proc. Natl. Acad. Sci. U.S.A. 99:6240-6245(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION (ISOFORM 1), INVOLVEMENT IN DFNB22.
[5]"A strategy for precise and large scale identification of core fucosylated glycoproteins."
Jia W., Lu Z., Fu Y., Wang H.P., Wang L.H., Chi H., Yuan Z.F., Zheng Z.B., Song L.N., Han H.H., Liang Y.M., Wang J.L., Cai Y., Zhang Y.K., Deng Y.L., Ying W.T., He S.M., Qian X.H.
Mol. Cell. Proteomics 8:913-923(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION AT ASN-211.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK057335 mRNA. No translation available.
AK093062 mRNA. Translation: BAC04040.1.
AK125840 mRNA. Translation: BAG54255.1.
AC092719 Genomic DNA. No translation available.
BC129992 mRNA. Translation: AAI29993.1.
BC129993 mRNA. Translation: AAI29994.1.
BK000099 Genomic DNA. Translation: DAA00022.1.
CCDSCCDS10600.2. [Q7RTW8-5]
CCDS32403.1. [Q7RTW8-2]
CCDS53994.1. [Q7RTW8-4]
RefSeqNP_001155155.1. NM_001161683.1. [Q7RTW8-4]
NP_733764.1. NM_170664.2. [Q7RTW8-2]
UniGeneHs.408336.

3D structure databases

ProteinModelPortalQ7RTW8.
SMRQ7RTW8. Positions 401-446, 577-622.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000373610.

PTM databases

PhosphoSiteQ7RTW8.

Polymorphism databases

DMDM56404568.

Proteomic databases

PaxDbQ7RTW8.
PRIDEQ7RTW8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000286149; ENSP00000286149; ENSG00000155719. [Q7RTW8-1]
ENST00000388956; ENSP00000373608; ENSG00000155719. [Q7RTW8-4]
ENST00000388957; ENSP00000373609; ENSG00000155719. [Q7RTW8-2]
ENST00000388958; ENSP00000373610; ENSG00000155719. [Q7RTW8-5]
GeneID146183.
KEGGhsa:146183.
UCSCuc002dji.3. human. [Q7RTW8-2]
uc002dlh.3. human. [Q7RTW8-3]
uc010vbj.2. human. [Q7RTW8-4]
uc010vbk.2. human. [Q7RTW8-1]

Organism-specific databases

CTD146183.
GeneCardsGC16P021689.
GeneReviewsOTOA.
HGNCHGNC:16378. OTOA.
HPAHPA041405.
MIM607038. gene.
607039. phenotype.
neXtProtNX_Q7RTW8.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA38403.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG27847.
HOGENOMHOG000065777.
HOVERGENHBG053381.
InParanoidQ7RTW8.
OMANLWILGR.
OrthoDBEOG79GT8H.
PhylomeDBQ7RTW8.
TreeFamTF336607.

Gene expression databases

ArrayExpressQ7RTW8.
BgeeQ7RTW8.
CleanExHS_OTOA.
GenevestigatorQ7RTW8.

Family and domain databases

InterProIPR026663. Otoancorin.
IPR026664. Stereocilin_related.
[Graphical view]
PANTHERPTHR23412. PTHR23412. 1 hit.
PTHR23412:SF14. PTHR23412:SF14. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi146183.
NextBio35460528.
PROQ7RTW8.
SOURCESearch...

Entry information

Entry nameOTOAN_HUMAN
AccessionPrimary (citable) accession number: Q7RTW8
Secondary accession number(s): A1L3A8 expand/collapse secondary AC list , A2VDI0, B3KWU3, E9PF51, Q8NA86, Q96M76
Entry history
Integrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: December 15, 2003
Last modified: July 9, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM