Q7RTW8 (OTOAN_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 92.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Otoancorin | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1153 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May act as an adhesion molecule. |
| Subcellular location | Apical cell membrane; Lipid-anchor › GPI-anchor; Extracellular side Probable. Secreted › extracellular space › extracellular 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. |
| Sequence similarities | Belongs to the stereocilin family. |
| Sequence caution | The sequence AK057335 differs from that shown. Reason: Frameshift at position 1139. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Hearing |
| Cellular component | Cell membrane Extracellular matrix Membrane Secreted |
| Coding sequence diversity | Alternative splicing |
| Disease | Deafness Non-syndromic deafness |
| Domain | Signal |
| PTM | GPI-anchor Glycoprotein Lipoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | sensory perception of sound Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | anchored to membrane Inferred from electronic annotation. Source: UniProtKB-KW apical plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell proteinaceous extracellular matrixInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 22 | 22 | Potential | ||||||
| Chain | 23 – 1130 | 1108 | Otoancorin | PRO_0000021971 | |||||
| Propeptide | 1131 – 1153 | 23 | Removed in mature form Potential | PRO_0000021972 | |||||
Amino acid modifications | |||||||||
| Lipidation | 1130 | 1 | GPI-anchor amidated alanine Potential | ||||||
| Glycosylation | 156 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 211 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 244 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 289 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 321 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 394 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 398 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 460 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 544 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 812 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 911 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 974 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 728 | 728 | Missing in isoform 3. | VSP_012211 | |||||
| Alternative sequence | 1 – 338 | 338 | Missing in isoform 2. | VSP_012212 | |||||
| Alternative sequence | 1 – 9 | 9 | MSQEPTTYS → MGNSITYRD in isoform 4. | VSP_043345 | |||||
| Alternative sequence | 10 – 88 | 79 | Missing in isoform 4. | VSP_043346 | |||||
| Alternative sequence | 328 – 341 | 14 | Missing in isoform 4 and isoform 5. | VSP_043347 | |||||
| Alternative sequence | 339 – 341 | 3 | PKM → MFR in isoform 2. | VSP_012213 | |||||
| Alternative sequence | 729 – 750 | 22 | DCPDL…LGQYG → MNVCKDSPRNKVNQKSKVME KK in isoform 3. | VSP_012214 | |||||
Experimental info | |||||||||
| Sequence conflict | 1039 | 1 | E → A in AAI29994. Ref.3 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||
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. 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. 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. |
| + | 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. |
| IPI | IPI00065386. IPI00170800. IPI00186424. IPI00657771. IPI00658074. |
| RefSeq | NP_001155155.1. NM_001161683.1. NP_733764.1. NM_170664.2. |
| UniGene | Hs.408336. |
3D structure databases | |
| ProteinModelPortal | Q7RTW8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000373610. |
PTM databases | |
| PhosphoSite | Q7RTW8. |
Polymorphism databases | |
| DMDM | 56404568. |
Proteomic databases | |
| PaxDb | Q7RTW8. |
| PRIDE | Q7RTW8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000286149; ENSP00000286149; ENSG00000155719. ENST00000388956; ENSP00000373608; ENSG00000155719. ENST00000388957; ENSP00000373609; ENSG00000155719. ENST00000388958; ENSP00000373610; ENSG00000155719. |
| GeneID | 146183. |
| KEGG | hsa:146183. |
| UCSC | uc002dji.3. human. uc002dlh.3. human. uc010vbk.2. human. |
Organism-specific databases | |
| CTD | 146183. |
| GeneCards | GC16P021689. |
| HGNC | HGNC:16378. OTOA. |
| HPA | HPA041405. |
| MIM | 607038. gene. 607039. phenotype. |
| neXtProt | NX_Q7RTW8. |
| Orphanet | 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB. |
| PharmGKB | PA38403. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG27847. |
| HOGENOM | HOG000065777. |
| HOVERGEN | HBG053381. |
| InParanoid | Q7RTW8. |
| OMA | NLWILGR. |
| PhylomeDB | Q7RTW8. |
Gene expression databases | |
| ArrayExpress | Q7RTW8. |
| Bgee | Q7RTW8. |
| CleanEx | HS_OTOA. |
| Genevestigator | Q7RTW8. |
| GermOnline | ENSG00000155719. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR026663. Otoancorin. IPR026664. Stereocilin_related. [Graphical view] |
| PANTHER | PTHR23412. PTHR23412. 1 hit. PTHR23412:SF2. PTHR23412:SF2. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 146183. |
| NextBio | 35460528. |
| SOURCE | Search... |
Entry information
| Entry name | OTOAN_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7RTW8 Secondary accession number(s): A1L3A8 Q96M76 | ||||||||
| Entry history |
| ||||||||
| Entry status | 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. | ||||||||
Relevant documents
| 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 |

Clusters with
