UniProtKB - Q7RTW8 (OTOAN_HUMAN)
Protein
Otoancorin
Gene
OTOA
Organism
Homo sapiens (Human)
Status
Functioni
May act as an adhesion molecule.
GO - Biological processi
- cell-matrix adhesion Source: GO_Central
- sensory perception of sound Source: UniProtKB-KW
Keywordsi
Biological process | Hearing |
Enzyme and pathway databases
PathwayCommonsi | Q7RTW8 |
Reactomei | R-HSA-163125, Post-translational modification: synthesis of GPI-anchored proteins |
Names & Taxonomyi
Protein namesi | Recommended name: Otoancorin |
Gene namesi | Name:OTOA |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16378, OTOA |
MIMi | 607038, gene |
neXtProti | NX_Q7RTW8 |
VEuPathDBi | HostDB:ENSG00000155719.16 |
Subcellular locationi
Plasma membrane
- Apical cell membrane Curated; GPI-anchor Curated; Extracellular side Curated
Extracellular region or secreted
- extracellular matrix Curated
Note: At the interface between the apical surface of the epithelia and the overlying acellular gel of the tectorial and otoconial membranes.By similarity
Extracellular region or secreted
- extracellular region Source: Reactome
Plasma Membrane
- apical plasma membrane Source: UniProtKB-SubCell
- plasma membrane Source: Reactome
Other locations
- anchored component of membrane Source: UniProtKB-KW
- cell surface Source: GO_Central
Keywords - Cellular componenti
Cell membrane, Extracellular matrix, Membrane, SecretedPathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 22 (DFNB22)1 Publication
The disease is caused by variants 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.
Related information in OMIMKeywords - Diseasei
Deafness, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 146183 |
GeneReviewsi | OTOA |
MalaCardsi | OTOA |
MIMi | 607039, phenotype |
OpenTargetsi | ENSG00000155719 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA38403 |
Miscellaneous databases
Pharosi | Q7RTW8, Tbio |
Genetic variation databases
BioMutai | OTOA |
DMDMi | 56404568 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 22 | Sequence analysisAdd BLAST | 22 | |
ChainiPRO_0000021971 | 23 – 1130 | OtoancorinAdd BLAST | 1108 | |
PropeptideiPRO_0000021972 | 1131 – 1153 | Removed in mature formSequence analysisAdd BLAST | 23 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 156 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 211 | N-linked (GlcNAc...) (complex) asparagine1 Publication | 1 | |
Glycosylationi | 244 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 289 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 321 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 394 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 398 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 460 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 544 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 812 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 911 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 974 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Lipidationi | 1130 | GPI-anchor amidated alanineSequence analysis | 1 |
Keywords - PTMi
Glycoprotein, GPI-anchor, LipoproteinProteomic databases
jPOSTi | Q7RTW8 |
MassIVEi | Q7RTW8 |
PaxDbi | Q7RTW8 |
PeptideAtlasi | Q7RTW8 |
PRIDEi | Q7RTW8 |
ProteomicsDBi | 20029 68916 [Q7RTW8-1] 68917 [Q7RTW8-2] 68918 [Q7RTW8-3] 68919 [Q7RTW8-4] |
PTM databases
GlyGeni | Q7RTW8, 12 sites |
iPTMneti | Q7RTW8 |
PhosphoSitePlusi | Q7RTW8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000155719, Expressed in testis and 70 other tissues |
ExpressionAtlasi | Q7RTW8, baseline and differential |
Genevisiblei | Q7RTW8, HS |
Organism-specific databases
HPAi | ENSG00000155719, Group enriched (blood, lymphoid tissue, testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 126968, 5 interactors |
STRINGi | 9606.ENSP00000373610 |
Miscellaneous databases
RNActi | Q7RTW8, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the stereocilin family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | ENOG502QU5H, Eukaryota |
GeneTreei | ENSGT00950000182957 |
HOGENOMi | CLU_291462_0_0_1 |
InParanoidi | Q7RTW8 |
OMAi | CLAWKFW |
OrthoDBi | 86428at2759 |
PhylomeDBi | Q7RTW8 |
TreeFami | TF336607 |
Family and domain databases
InterProi | View protein in InterPro IPR026663, Otoancorin IPR026664, Stereocilin-rel |
PANTHERi | PTHR23412, PTHR23412, 1 hit PTHR23412:SF18, PTHR23412:SF18, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q7RTW8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8YG28 | A0A2R8YG28_HUMAN | Otoancorin | OTOA | 353 | Annotation score: |
Sequence cautioni
The sequence AK057335 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1039 | E → A in AAI29994 (PubMed:15489334).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_012211 | 1 – 728 | Missing in isoform 3. 1 PublicationAdd BLAST | 728 | |
Alternative sequenceiVSP_012212 | 1 – 338 | Missing in isoform 2. 1 PublicationAdd BLAST | 338 | |
Alternative sequenceiVSP_043345 | 1 – 9 | MSQEPTTYS → MGNSITYRD in isoform 4. 1 Publication | 9 | |
Alternative sequenceiVSP_043346 | 10 – 88 | Missing in isoform 4. 1 PublicationAdd BLAST | 79 | |
Alternative sequenceiVSP_043347 | 328 – 341 | Missing in isoform 4 and isoform 5. 2 PublicationsAdd BLAST | 14 | |
Alternative sequenceiVSP_012213 | 339 – 341 | PKM → MFR in isoform 2. 1 Publication | 3 | |
Alternative sequenceiVSP_012214 | 729 – 750 | DCPDL…LGQYG → MNVCKDSPRNKVNQKSKVME KK in isoform 3. 1 PublicationAdd BLAST | 22 |
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 |
CCDSi | CCDS10600.2 [Q7RTW8-5] CCDS32403.1 [Q7RTW8-2] CCDS53994.1 [Q7RTW8-4] |
RefSeqi | NP_001155155.1, NM_001161683.1 [Q7RTW8-4] NP_733764.1, NM_170664.2 [Q7RTW8-2] XP_011544049.1, XM_011545747.2 |
Genome annotation databases
Ensembli | ENST00000286149; ENSP00000286149; ENSG00000155719 [Q7RTW8-1] ENST00000388956; ENSP00000373608; ENSG00000155719 [Q7RTW8-4] ENST00000388957; ENSP00000373609; ENSG00000155719 [Q7RTW8-2] ENST00000388958; ENSP00000373610; ENSG00000155719 [Q7RTW8-5] ENST00000646100; ENSP00000496564; ENSG00000155719 [Q7RTW8-5] |
GeneIDi | 146183 |
KEGGi | hsa:146183 |
UCSCi | uc002djh.3, human [Q7RTW8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS10600.2 [Q7RTW8-5] CCDS32403.1 [Q7RTW8-2] CCDS53994.1 [Q7RTW8-4] |
RefSeqi | NP_001155155.1, NM_001161683.1 [Q7RTW8-4] NP_733764.1, NM_170664.2 [Q7RTW8-2] XP_011544049.1, XM_011545747.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 126968, 5 interactors |
STRINGi | 9606.ENSP00000373610 |
PTM databases
GlyGeni | Q7RTW8, 12 sites |
iPTMneti | Q7RTW8 |
PhosphoSitePlusi | Q7RTW8 |
Genetic variation databases
BioMutai | OTOA |
DMDMi | 56404568 |
Proteomic databases
jPOSTi | Q7RTW8 |
MassIVEi | Q7RTW8 |
PaxDbi | Q7RTW8 |
PeptideAtlasi | Q7RTW8 |
PRIDEi | Q7RTW8 |
ProteomicsDBi | 20029 68916 [Q7RTW8-1] 68917 [Q7RTW8-2] 68918 [Q7RTW8-3] 68919 [Q7RTW8-4] |
Protocols and materials databases
Antibodypediai | 50672, 82 antibodies |
Genome annotation databases
Ensembli | ENST00000286149; ENSP00000286149; ENSG00000155719 [Q7RTW8-1] ENST00000388956; ENSP00000373608; ENSG00000155719 [Q7RTW8-4] ENST00000388957; ENSP00000373609; ENSG00000155719 [Q7RTW8-2] ENST00000388958; ENSP00000373610; ENSG00000155719 [Q7RTW8-5] ENST00000646100; ENSP00000496564; ENSG00000155719 [Q7RTW8-5] |
GeneIDi | 146183 |
KEGGi | hsa:146183 |
UCSCi | uc002djh.3, human [Q7RTW8-1] |
Organism-specific databases
CTDi | 146183 |
DisGeNETi | 146183 |
GeneCardsi | OTOA |
GeneReviewsi | OTOA |
HGNCi | HGNC:16378, OTOA |
HPAi | ENSG00000155719, Group enriched (blood, lymphoid tissue, testis) |
MalaCardsi | OTOA |
MIMi | 607038, gene 607039, phenotype |
neXtProti | NX_Q7RTW8 |
OpenTargetsi | ENSG00000155719 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA38403 |
VEuPathDBi | HostDB:ENSG00000155719.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QU5H, Eukaryota |
GeneTreei | ENSGT00950000182957 |
HOGENOMi | CLU_291462_0_0_1 |
InParanoidi | Q7RTW8 |
OMAi | CLAWKFW |
OrthoDBi | 86428at2759 |
PhylomeDBi | Q7RTW8 |
TreeFami | TF336607 |
Enzyme and pathway databases
PathwayCommonsi | Q7RTW8 |
Reactomei | R-HSA-163125, Post-translational modification: synthesis of GPI-anchored proteins |
Miscellaneous databases
BioGRID-ORCSi | 146183, 5 hits in 982 CRISPR screens |
ChiTaRSi | OTOA, human |
GenomeRNAii | 146183 |
Pharosi | Q7RTW8, Tbio |
PROi | PR:Q7RTW8 |
RNActi | Q7RTW8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000155719, Expressed in testis and 70 other tissues |
ExpressionAtlasi | Q7RTW8, baseline and differential |
Genevisiblei | Q7RTW8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR026663, Otoancorin IPR026664, Stereocilin-rel |
PANTHERi | PTHR23412, PTHR23412, 1 hit PTHR23412:SF18, PTHR23412:SF18, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | OTOAN_HUMAN | |
Accessioni | Q7RTW8Primary (citable) accession number: Q7RTW8 Secondary accession number(s): A1L3A8 Q96M76 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 7, 2004 |
Last sequence update: | December 15, 2003 | |
Last modified: | April 7, 2021 | |
This is version 149 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families