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Protein

Otoancorin

Gene

OTOA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May act as an adhesion molecule.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
Otoancorin
Gene namesi
Name:OTOA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:16378. OTOA.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Extracellular matrix, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 22 (DFNB22)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607039

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNETi146183.
MalaCardsiOTOA.
MIMi607039. phenotype.
OpenTargetsiENSG00000155719.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA38403.

Polymorphism and mutation databases

BioMutaiOTOA.
DMDMi56404568.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000002197123 – 1130OtoancorinAdd BLAST1108
PropeptideiPRO_00000219721131 – 1153Removed in mature formSequence analysisAdd BLAST23

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi156N-linked (GlcNAc...)Sequence analysis1
Glycosylationi211N-linked (GlcNAc...) (complex)1 Publication1
Glycosylationi244N-linked (GlcNAc...)Sequence analysis1
Glycosylationi289N-linked (GlcNAc...)Sequence analysis1
Glycosylationi321N-linked (GlcNAc...)Sequence analysis1
Glycosylationi394N-linked (GlcNAc...)Sequence analysis1
Glycosylationi398N-linked (GlcNAc...)Sequence analysis1
Glycosylationi460N-linked (GlcNAc...)Sequence analysis1
Glycosylationi544N-linked (GlcNAc...)Sequence analysis1
Glycosylationi812N-linked (GlcNAc...)Sequence analysis1
Glycosylationi911N-linked (GlcNAc...)Sequence analysis1
Glycosylationi974N-linked (GlcNAc...)Sequence analysis1
Lipidationi1130GPI-anchor amidated alanineSequence analysis1

Keywords - PTMi

Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiQ7RTW8.
PeptideAtlasiQ7RTW8.
PRIDEiQ7RTW8.

PTM databases

iPTMnetiQ7RTW8.
PhosphoSitePlusiQ7RTW8.

Expressioni

Gene expression databases

BgeeiENSG00000155719.
CleanExiHS_OTOA.
GenevisibleiQ7RTW8. HS.

Organism-specific databases

HPAiHPA041405.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000373610.

Structurei

3D structure databases

ProteinModelPortaliQ7RTW8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the stereocilin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IIZ7. Eukaryota.
ENOG4110T9H. LUCA.
GeneTreeiENSGT00530000063809.
HOGENOMiHOG000065777.
HOVERGENiHBG053381.
InParanoidiQ7RTW8.
OMAiWAKSQVI.
OrthoDBiEOG091G00ZK.
PhylomeDBiQ7RTW8.
TreeFamiTF336607.

Family and domain databases

InterProiIPR026663. Otoancorin.
IPR026664. Stereocilin-rel.
[Graphical view]
PANTHERiPTHR23412. PTHR23412. 1 hit.
PTHR23412:SF18. PTHR23412:SF18. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7RTW8-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MSQEPTTYSL FLFLFLSHGV SSYTVPNSRQ DLHPLLQNMA EEIIDGSYLN
60 70 80 90 100
ALLDLIQFQS SHVWTDDLSH RVLAYLNSRN VAFTIPSLQA AVENHLEQRL
110 120 130 140 150
HQPQKLLEDL RKTDAQQFRT AMKCLLEDKK DGLDLKDIII DLGEIRERAL
160 170 180 190 200
QSPGVNRSLF LITLERCFQM LNSLECVEIL GKVLRGSSGS FLQPDITERL
210 220 230 240 250
PRDLREDAFK NLSAVFKDLY DKTSAHSQRA LYSWMTGILQ TSSNATDDSA
260 270 280 290 300
SWVSAEHLWV LGRYMVHLSF EEITKISPIE IGLFISYDNA TKQLDMVYDI
310 320 330 340 350
TPELAQAFLE RISSSNFNMR NTSTIHRQAH ELWALEPFPK MLGLLVCFYN
360 370 380 390 400
DLELLDATVA QVLLYQMIKC SHLRGFQAGV QKLKAELLDI AMENQTLNET
410 420 430 440 450
LGSLSDAVVG LTYSQLESLS PEAVHGAIST LNQVSGWAKS QVIILSAKYL
460 470 480 490 500
AHEKVLSFYN VSQMGALLAG VSTQAFCSMK RKDISQVLRS AVSQYVSDLS
510 520 530 540 550
PAQQQGILSK MVQAEDTAPG IVEIQGAFFK EVSLFDLRRQ PGFNSTVLKD
560 570 580 590 600
KELGRSQALF LYELLLKTTR RPEELLSAGQ LVKGVTCSHI DAMSTDFFLA
610 620 630 640 650
HFQDFQNNFA LLSPYQVNCL AWKYWEVSRL SMPPFLLAAL PARYLASVPA
660 670 680 690 700
SQCVPFLISL GKSWLDSLVL DSHKKTSVLR KVQQCLDDSI ADEYTVDIMG
710 720 730 740 750
NLLCHLPAAI IDRGISPRAW ATALHGLRDC PDLNPEQKAA VRLKLLGQYG
760 770 780 790 800
LPQHWTAETT KDLGPFLVLF SGDELSSIAT KFPEILLQAA SKMARTLPTK
810 820 830 840 850
EFLWAVFQSV RNSSDKIPSY DPMPGCHGVV APSSDDIFKL AEANACWALE
860 870 880 890 900
DLRCMEEDTF IRTVELLGAV QGFSRPQLMT LKEKAIQVWD MPSYWREHHI
910 920 930 940 950
VSLGRIALAL NESELEQLDL SSIDTVASLS WQTEWTPGQA ESILQGYLDD
960 970 980 990 1000
SGYSIQDLKS FHLVGLGATL CAINITEIPL IKISEFRVVV ARIGTLLCST
1010 1020 1030 1040 1050
HVLAEFKRKA EVVFGDPTEW TSSVLQELGT IAAGLTKAEL RMLDKDLMPY
1060 1070 1080 1090 1100
FQPSAIKCLP DEIFKELSAE QIASLGPENA AAVTHAQRRR LSPLQLQSLQ
1110 1120 1130 1140 1150
QALDGAKTHS WQDAPASAGP TRTSSSRSPA GALQSWGLWL GCPLLVLMAK

LLW
Length:1,153
Mass (Da):128,533
Last modified:December 15, 2003 - v1
Checksum:iD23E5767718021D7
GO
Isoform 2 (identifier: Q7RTW8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-338: Missing.
     339-341: PKM → MFR

Show »
Length:815
Mass (Da):89,914
Checksum:iA8EFF6FA5850C894
GO
Isoform 3 (identifier: Q7RTW8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-728: Missing.
     729-750: DCPDLNPEQKAAVRLKLLGQYG → MNVCKDSPRNKVNQKSKVMEKK

Show »
Length:425
Mass (Da):46,980
Checksum:iA17635E55BA47451
GO
Isoform 4 (identifier: Q7RTW8-4) [UniParc]FASTAAdd to basket

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.
Show »
Length:1,060
Mass (Da):117,880
Checksum:i816E440E9023D5D9
GO
Isoform 5 (identifier: Q7RTW8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-341: Missing.

Note: No experimental confirmation available.
Show »
Length:1,139
Mass (Da):126,854
Checksum:i3B8E705089670E8C
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1039E → A in AAI29994 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0122111 – 728Missing in isoform 3. 1 PublicationAdd BLAST728
Alternative sequenceiVSP_0122121 – 338Missing in isoform 2. 1 PublicationAdd BLAST338
Alternative sequenceiVSP_0433451 – 9MSQEPTTYS → MGNSITYRD in isoform 4. 1 Publication9
Alternative sequenceiVSP_04334610 – 88Missing in isoform 4. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_043347328 – 341Missing in isoform 4 and isoform 5. 2 PublicationsAdd BLAST14
Alternative sequenceiVSP_012213339 – 341PKM → MFR in isoform 2. 1 Publication3
Alternative sequenceiVSP_012214729 – 750DCPDL…LGQYG → MNVCKDSPRNKVNQKSKVME KK in isoform 3. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10600.2. [Q7RTW8-5]
CCDS32403.1. [Q7RTW8-2]
CCDS53994.1. [Q7RTW8-4]
RefSeqiNP_001155155.1. NM_001161683.1. [Q7RTW8-4]
NP_733764.1. NM_170664.2. [Q7RTW8-2]
XP_011544049.1. XM_011545747.2. [Q7RTW8-5]
UniGeneiHs.408336.

Genome annotation databases

EnsembliENST00000286149; ENSP00000286149; ENSG00000155719. [Q7RTW8-1]
ENST00000388956; ENSP00000373608; ENSG00000155719. [Q7RTW8-4]
ENST00000388957; ENSP00000373609; ENSG00000155719. [Q7RTW8-2]
ENST00000388958; ENSP00000373610; ENSG00000155719. [Q7RTW8-5]
GeneIDi146183.
KEGGihsa:146183.
UCSCiuc002djh.3. human. [Q7RTW8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10600.2. [Q7RTW8-5]
CCDS32403.1. [Q7RTW8-2]
CCDS53994.1. [Q7RTW8-4]
RefSeqiNP_001155155.1. NM_001161683.1. [Q7RTW8-4]
NP_733764.1. NM_170664.2. [Q7RTW8-2]
XP_011544049.1. XM_011545747.2. [Q7RTW8-5]
UniGeneiHs.408336.

3D structure databases

ProteinModelPortaliQ7RTW8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000373610.

PTM databases

iPTMnetiQ7RTW8.
PhosphoSitePlusiQ7RTW8.

Polymorphism and mutation databases

BioMutaiOTOA.
DMDMi56404568.

Proteomic databases

PaxDbiQ7RTW8.
PeptideAtlasiQ7RTW8.
PRIDEiQ7RTW8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000286149; ENSP00000286149; ENSG00000155719. [Q7RTW8-1]
ENST00000388956; ENSP00000373608; ENSG00000155719. [Q7RTW8-4]
ENST00000388957; ENSP00000373609; ENSG00000155719. [Q7RTW8-2]
ENST00000388958; ENSP00000373610; ENSG00000155719. [Q7RTW8-5]
GeneIDi146183.
KEGGihsa:146183.
UCSCiuc002djh.3. human. [Q7RTW8-1]

Organism-specific databases

CTDi146183.
DisGeNETi146183.
GeneCardsiOTOA.
GeneReviewsiOTOA.
HGNCiHGNC:16378. OTOA.
HPAiHPA041405.
MalaCardsiOTOA.
MIMi607038. gene.
607039. phenotype.
neXtProtiNX_Q7RTW8.
OpenTargetsiENSG00000155719.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA38403.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIZ7. Eukaryota.
ENOG4110T9H. LUCA.
GeneTreeiENSGT00530000063809.
HOGENOMiHOG000065777.
HOVERGENiHBG053381.
InParanoidiQ7RTW8.
OMAiWAKSQVI.
OrthoDBiEOG091G00ZK.
PhylomeDBiQ7RTW8.
TreeFamiTF336607.

Miscellaneous databases

GenomeRNAii146183.
PROiQ7RTW8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000155719.
CleanExiHS_OTOA.
GenevisibleiQ7RTW8. HS.

Family and domain databases

InterProiIPR026663. Otoancorin.
IPR026664. Stereocilin-rel.
[Graphical view]
PANTHERiPTHR23412. PTHR23412. 1 hit.
PTHR23412:SF18. PTHR23412:SF18. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiOTOAN_HUMAN
AccessioniPrimary (citable) accession number: Q7RTW8
Secondary accession number(s): A1L3A8
, A2VDI0, B3KWU3, E9PF51, Q8NA86, Q96M76
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: December 15, 2003
Last modified: November 2, 2016
This is version 122 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.