Q6ZRI0 (OTOG_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 75.
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: Otogelin | ||||
| 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 | 2925 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 | Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes By similarity. |
| Subcellular location | Apical cell membrane; Peripheral membrane protein; Extracellular side By similarity. Secreted › extracellular space By similarity. Note: Found in fiber-like structures during the maturation process of the tectorial membrane By similarity. |
| Post-translational modification | N-glycosylated By similarity. Not O-glycosylated By similarity. |
| Sequence similarities | Belongs to the otogelin family. Contains 1 CTCK (C-terminal cystine knot-like) domain. Contains 1 EGF-like domain. Contains 1 TIL (trypsin inhibitory-like) domain. Contains 4 VWFD domains. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6ZRI0-1) 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. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 2 (identifier: Q6ZRI0-2) The sequence of this isoform differs from the canonical sequence as follows: 1-985: Missing. 986-1014: CTAYGDRHYRTFDGLPFDFVGACKVHLVK → MFPARGVPLHLEGEGVFPWGPGDVSLPYL 1240-1249: PYDCDFFNKV → L 2434-2575: Missing. 2644-2644: E → G 2645-2925: 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 – 2925 | 2903 | Otogelin | PRO_0000312148 | |||||||
Regions | |||||||||||
| Domain | 102 – 139 | 38 | EGF-like | ||||||||
| Domain | 151 – 353 | 203 | VWFD 1 | ||||||||
| Domain | 513 – 727 | 215 | VWFD 2 | ||||||||
| Domain | 768 – 832 | 65 | TIL | ||||||||
| Domain | 985 – 1187 | 203 | VWFD 3 | ||||||||
| Domain | 2111 – 2323 | 213 | VWFD 4 | ||||||||
| Domain | 2840 – 2925 | 86 | CTCK | ||||||||
| Compositional bias | 1482 – 1880 | 399 | Pro-rich | ||||||||
| Compositional bias | 2499 – 2647 | 149 | Cys-rich | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 914 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1478 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1612 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 106 ↔ 120 | By similarity | |||||||||
| Disulfide bond | 114 ↔ ?126 | By similarity | |||||||||
| Disulfide bond | 128 ↔ 138 | By similarity | |||||||||
| Disulfide bond | 2840 ↔ 2889 | By similarity | |||||||||
| Disulfide bond | 2854 ↔ 2903 | By similarity | |||||||||
| Disulfide bond | 2865 ↔ 2920 | By similarity | |||||||||
| Disulfide bond | 2869 ↔ 2922 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 985 | 985 | Missing in isoform 2. | VSP_029709 | |||||||
| Alternative sequence | 986 – 1014 | 29 | CTAYG…VHLVK → MFPARGVPLHLEGEGVFPWG PGDVSLPYL in isoform 2. | VSP_029710 | |||||||
| Alternative sequence | 1240 – 1249 | 10 | PYDCDFFNKV → L in isoform 2. | VSP_029711 | |||||||
| Alternative sequence | 2434 – 2575 | 142 | Missing in isoform 2. | VSP_029712 | |||||||
| Alternative sequence | 2644 | 1 | E → G in isoform 2. | VSP_029713 | |||||||
| Alternative sequence | 2645 – 2925 | 281 | Missing in isoform 2. | VSP_029714 | |||||||
| Natural variant | 375 | 1 | T → S. Corresponds to variant rs7130190 [ dbSNP | Ensembl ]. | VAR_037406 | |||||||
| Natural variant | 391 | 1 | A → D. Corresponds to variant rs61611064 [ dbSNP | Ensembl ]. | VAR_061161 | |||||||
| Natural variant | 659 | 1 | T → M. Corresponds to variant rs7112749 [ dbSNP | Ensembl ]. | VAR_037407 | |||||||
| Natural variant | 692 | 1 | S → P. Corresponds to variant rs7106548 [ dbSNP | Ensembl ]. | VAR_037408 | |||||||
| Natural variant | 919 | 1 | A → T. Corresponds to variant rs2355466 [ dbSNP | Ensembl ]. | VAR_037409 | |||||||
| Natural variant | 1075 | 1 | R → Q. Corresponds to variant rs11024333 [ dbSNP | Ensembl ]. | VAR_037410 | |||||||
| Natural variant | 1112 | 1 | A → V. Corresponds to variant rs7936324 [ dbSNP | Ensembl ]. | VAR_037411 | |||||||
| Natural variant | 1129 | 1 | P → L. Corresponds to variant rs7936354 [ dbSNP | Ensembl ]. | VAR_037412 | |||||||
| Natural variant | 1399 | 1 | A → G. Corresponds to variant rs4491195 [ dbSNP | Ensembl ]. | VAR_037413 | |||||||
| Natural variant | 1646 | 1 | P → L. Corresponds to variant rs2041028 [ dbSNP | Ensembl ]. | VAR_037414 | |||||||
| Natural variant | 1832 | 1 | A → V. Corresponds to variant rs1003490 [ dbSNP | Ensembl ]. | VAR_037415 | |||||||
| Natural variant | 1947 | 1 | T → M. Corresponds to variant rs7111528 [ dbSNP | Ensembl ]. | VAR_037416 | |||||||
| Natural variant | 2006 | 1 | A → V. Corresponds to variant rs11024341 [ dbSNP | Ensembl ]. | VAR_047262 | |||||||
| Natural variant | 2750 | 1 | R → Q. Corresponds to variant rs12422210 [ dbSNP | Ensembl ]. | VAR_037417 | |||||||
| Natural variant | 2909 | 1 | W → S. Corresponds to variant rs11024357 [ dbSNP | Ensembl ]. | VAR_037418 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 1375 | 1 | A → P in BAC87330. Ref.1 | ||||||||
| Sequence conflict | 2121 | 1 | V → A in BAC87330. Ref.1 | ||||||||
Sequences
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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] (ISOFORM 2). Tissue: Testis. |
| [2] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK128214 mRNA. Translation: BAC87330.1. AC124799 Genomic DNA. No translation available. |
| IPI | IPI00418765. IPI00853292. |
| RefSeq | XP_001717583.3. XM_001717531.3. XP_291816.8. XM_291816.8. |
| UniGene | Hs.688380. |
3D structure databases | |
| ProteinModelPortal | Q6ZRI0. |
| SMR | Q6ZRI0. Positions 418-474, 2371-2442, 2838-2923. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000382323. |
PTM databases | |
| PhosphoSite | Q6ZRI0. |
Polymorphism databases | |
| DMDM | 215274227. |
Proteomic databases | |
| PaxDb | Q6ZRI0. |
| PRIDE | Q6ZRI0. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000342528; ENSP00000341666; ENSG00000188162. ENST00000399391; ENSP00000382323; ENSG00000188162. |
| GeneID | 340990. |
| KEGG | hsa:340990. |
| UCSC | uc001mnh.1. human. |
Organism-specific databases | |
| CTD | 340990. |
| GeneCards | GC11P017530. |
| HGNC | HGNC:8516. OTOG. |
| MIM | 604487. gene. |
| neXtProt | NX_Q6ZRI0. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| HOVERGEN | HBG108222. |
| InParanoid | Q6ZRI0. |
| OMA | PYFEQCR. |
Gene expression databases | |
| ArrayExpress | Q6ZRI0. |
| Bgee | Q6ZRI0. |
| CleanEx | HS_OTOG. |
| Genevestigator | Q6ZRI0. |
Family and domain databases | |
| InterPro | IPR007934. AbfB. IPR006207. Cys_knot_C. IPR000742. EG-like_dom. IPR002919. TIL_dom. IPR014853. Unchr_dom_Cys-rich. IPR001007. VWF_C. IPR001846. VWF_type-D. [Graphical view] |
| Pfam | PF05270. AbfB. 1 hit. PF08742. C8. 4 hits. PF01826. TIL. 1 hit. PF00094. VWD. 4 hits. [Graphical view] |
| SMART | SM00832. C8. 4 hits. SM00041. CT. 1 hit. SM00214. VWC. 2 hits. SM00216. VWD. 4 hits. [Graphical view] |
| SUPFAM | SSF110221. AbfB. 1 hit. SSF57567. Cysrich_TIL. 5 hits. |
| PROSITE | PS01225. CTCK_2. 1 hit. PS00022. EGF_1. False negative. PS01186. EGF_2. False negative. PS50026. EGF_3. 1 hit. PS51233. VWFD. 4 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 340990. |
| NextBio | 98054. |
| SOURCE | Search... |
Entry information
| Entry name | OTOG_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6ZRI0 Secondary accession number(s): A8MTX6, A8MUJ0, B7WPC4 | ||||||||
| Entry history |
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| 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 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| 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
