Reviewed,
UniProtKB/Swiss-Prot Q80VM9 (OTOP1_MOUSE)
Last modified
January 19, 2010.
Version 37.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Otopetrin-1 | ||
| Gene names |
| ||
| Organism | Mus musculus (Mouse) | ||
| Taxonomic identifier | 10090 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus |
Protein attributes
| Sequence length | 600 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Required for normal formation of otoconia in the inner ear. Inhibits P2Y purinoceptors. Modulates calcium homeostasis and influx of calcium in response to extracellular ATP. Ref.1 Ref.3 |
| Subcellular location | Membrane; Multi-pass membrane protein. Secreted › extracellular space. Note: Detected in the gelatinous membrane overlying the inner ear macular epithelium. |
| Tissue specificity | Detected in embryonic inner ear macular epithelia. Detected in thymus, heart, kidney, skin, adrenal gland and lactating mammary gland. Ref.1 |
| Miscellaneous | Mice lacking otop1 display the mergulhador (mlh) phenotype. Affected mice have defects in the formation of otoconia in the inner ear, but do not suffer from deafness or other inner ear defects. They cannot perceive gravity and have problems with spatial orientation and with keeping their equilibrium. They show typical head-tilting behavior and are unable to swim. Otoconia are minute biomineral particles embedded in a gelatinous membrane that overlies the sensory epithelium in the inner ear. Gravity and acceleration cause the octoconia to deflect the stereocilia of sensory hair cells. Otoconia are required for normal processing of information regarding spatial orientation. |
| Sequence similarities | Belongs to the otopetrin family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Biomineralization |
| Cellular component | Membrane Secreted |
| Coding sequence diversity | Alternative splicing |
| Domain | Transmembrane |
| Gene Ontology (GO) | |
| Biological process | biomineral formation Inferred from electronic annotation. Source: UniProtKB-KW detection of gravity Ref.1Inferred from mutant phenotype. Source: MGI inner ear morphogenesis Ref.1Inferred from mutant phenotype. Source: MGI |
| Cellular component | extracellular space Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q80VM9-1) Also known as: A; Otopetrin-1a; Otop1-a; 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: Q80VM9-2) The sequence of this isoform differs from the canonical sequence as follows: 1-190: Missing. | ||||||
| Isoform 3 (identifier: Q80VM9-3) Also known as: B; Otopetrin-1b; Otop1-b; The sequence of this isoform differs from the canonical sequence as follows: 1-35: MPGGPGAPSSPAASSGSSRAAPSGIAACPLSPPPL → MLTPPETLSAFLAGGFLGCLCLLEGLGCLRIA |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 600 | 600 | Otopetrin-1 | PRO_0000313817 | |||||
Regions | |||||||||
| Transmembrane | 65 – 85 | 21 | Potential | ||||||
| Transmembrane | 90 – 110 | 21 | Potential | ||||||
| Transmembrane | 135 – 155 | 21 | Potential | ||||||
| Transmembrane | 166 – 186 | 21 | Potential | ||||||
| Transmembrane | 199 – 219 | 21 | Potential | ||||||
| Transmembrane | 267 – 287 | 21 | Potential | ||||||
| Transmembrane | 309 – 329 | 21 | Potential | ||||||
| Transmembrane | 345 – 365 | 21 | Potential | ||||||
| Transmembrane | 533 – 553 | 21 | Potential | ||||||
| Transmembrane | 564 – 584 | 21 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 190 | 190 | Missing in isoform 2. | VSP_030160 | |||||
| Alternative sequence | 1 – 35 | 35 | MPGGP…SPPPL → MLTPPETLSAFLAGGFLGCL CLLEGLGCLRIA in isoform 3. | VSP_030161 | |||||
Experimental info | |||||||||
| Mutagenesis | 151 | 1 | A → E in tlt (tilted phenotype); affected mice have defects in the formation of otoconia in the inner ear, but do not suffer from deafness or other inner ear defects. They cannot perceive gravity and have problems with spatial orientation and with keeping their equilibrium. They show typical head-tilting behavior and are unable to swim. Ref.1 | ||||||
| Mutagenesis | 408 | 1 | L → Q in mlh (mergulhador phenotype); affected mice have defects in the formation of otoconia in the inner ear, but do not suffer from deafness or other inner ear defects. They cannot perceive gravity and have problems with spatial orientation and with keeping their equilibrium. They show typical head-tilting behavior and are unable to swima. Ref.1 | ||||||
| Sequence conflict | 396 | 1 | A → G in AAO33824. Ref.1 | ||||||
| Sequence conflict | 396 | 1 | A → G in DAA00897. Ref.1 | ||||||
| Sequence conflict | 396 | 1 | A → G in DAA00898. Ref.1 | ||||||
| Sequence conflict | 401 | 1 | L → P in BAC30704. Ref.2 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF548337 mRNA. Translation: AAO33824.1. BK000650 Genomic DNA. Translation: DAA00897.1. BK000650 Genomic DNA. Translation: DAA00898.1. AK040792 mRNA. Translation: BAC30704.1. AK041023 mRNA. Translation: BAC30785.1. |
| IPI | IPI00224403. IPI00867832. IPI00881381. |
| RefSeq | NP_766297.2. |
| UniGene | Mm.204765 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q80VM9. |
Proteomic databases | |
| PRIDE | Q80VM9. |
Genome annotation databases | |
| Ensembl | ENSMUST00000063136; ENSMUSP00000061805; ENSMUSG00000051596; Mus musculus. [Genome view] ENSMUST00000114099; ENSMUSP00000109734; ENSMUSG00000051596; Mus musculus. [Genome view] |
| GeneID | 21906. |
| KEGG | mmu:21906. |
Organism-specific databases | |
| CTD | 21906. |
| MGI | MGI:2388363. Otop1. |
Phylogenomic databases | |
| eggNOG | maNOG09529. |
| HOGENOM | HBG715271. |
| HOVERGEN | Q80VM9. |
| InParanoid | Q80VM9. |
Gene expression databases | |
| ArrayExpress | Q80VM9. |
| Bgee | Q80VM9. |
| CleanEx | MM_OTOP1. |
| Genevestigator | Q80VM9. |
Family and domain databases | |
| InterPro | IPR004878. Otopetrin. [Graphical view] |
| PANTHER | PTHR21522. DUF270. 1 hit. |
| Pfam | PF03189. DUF270. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 301444. |
| SOURCE | Search... |
Entry information
| Entry name | OTOP1_MOUSE | ||||||||
| Accession | Primary (citable) accession number: Q80VM9 Secondary accession number(s): Q7M735, Q8BRZ4, Q8BS22 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| MGD cross-references Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot |
| Protein Spotlight Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries |
| SIMILARITY comments Index of protein domains and families |

Clusters with


