| URN | urn:agi-llid:1701 |
|---|---|
| Total Entities | 0 |
| Connectivity | 50 |
| Name | Otof |
| Description | otoferlin |
| Notes | Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| GO Molecular Function | calcium ion binding |
|---|
| GO Cellular Component | cell junction |
|---|---|
| membrane | |
| synapse | |
| endoplasmic reticulum membrane | |
| synaptic vesicle membrane | |
| basolateral plasma membrane | |
| integral to membrane | |
| plasma membrane | |
| cytoplasmic vesicle | |
| cytosol | |
| endoplasmic reticulum |
| GO Biological Process | synaptic vesicle exocytosis |
|---|---|
| cellular membrane fusion | |
| sensory perception of sound |
| Pathway | auditory mechanotransduction pathway |
|---|
| Group | synaptic vesicle exocytosis |
|---|---|
| cellular membrane fusion | |
| sensory perception of sound | |
| calcium ion binding | |
| cell junction | |
| membrane | |
| synapse | |
| endoplasmic reticulum membrane | |
| synaptic vesicle membrane | |
| basolateral plasma membrane | |
| integral to membrane | |
| plasma membrane | |
| cytoplasmic vesicle | |
| cytosol | |
| endoplasmic reticulum |
| MedScan ID | 1701 |
|---|
| Hugo ID | 8515 |
|---|
| Human chromosome position | 2p23.1 |
|---|
| LocusLink ID | 1701 |
|---|---|
| 9381 | |
| 83762 | |
| 84573 |
| Alias | AUNB1 |
|---|---|
| DFNB6 | |
| DFNB9 | |
| NSRD9 | |
| FER1L2 | |
| otoferlin | |
| fer-1-like protein 2 | |
| otoferlin transcript variant 46-48 | |
| rCG_61803 | |
| OTTHUMP00000122455 | |
| OTTMUSP00000031633 | |
| OTTHUMP00000122454 | |
| OTOF | |
| deafness, autosomal recessive 9 | |
| OTTMUSP00000032661 | |
| cochlear otoferlin | |
| MGC183613 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 603681 |
|---|---|
| 601071 |
| Unigene ID | Hs.91608 |
|---|---|
| Mm.244502 | |
| Rn.223267 |
| KEGG ID | hsa:9381 |
|---|---|
| mmu:83762 | |
| rno:84573 |
| Swiss-Prot Accession | Q9HC10 |
|---|---|
| Q9ESF1 | |
| E9PYR6 | |
| Q9ERC5 | |
| D3ZIS3 | |
| A3KLM3 | |
| B2RWU0 | |
| Q8CCE7 | |
| Q9ESF2 | |
| B4DJX0 | |
| B5MCC1 | |
| B9A0H6 | |
| Q53R90 | |
| Q9HC08 | |
| Q9HC09 | |
| Q9Y650 |
| GO ID | 0005509 |
|---|---|
| 0006944 | |
| 0007605 | |
| 0016079 | |
| 0016323 | |
| 0030054 | |
| 0005829 | |
| 0005789 | |
| 0016021 | |
| 0030672 | |
| 0031410 | |
| 0005783 | |
| 0016020 | |
| 0005886 | |
| 0045202 |
| Swiss-Prot ID | OTOF_RAT |
|---|---|
| OTOF_MOUSE | |
| OTOF_HUMAN |
| Cell Localization | Cytoplasmic vesicle |
|---|---|
| secretory vesicle | |
| synaptic vesicle membrane | |
| Basolateral cell membrane | |
| Endoplasmic reticulum membrane | |
| Cell membrane |
| IPI ID | IPI00557561 |
|---|---|
| IPI00113302 | |
| IPI00223385 | |
| IPI00915509 | |
| IPI00216362 | |
| IPI00216364 | |
| IPI00216366 | |
| IPI00375559 | |
| IPI00893506 |
| Mouse chromosome position | 5 |
|---|
| Rat chromosome position | 6q14 |
|---|
| Homologene ID | 12892 |
|---|
| MGI ID | 1891247 |
|---|
| RGD ID | 620646 |
|---|