| URN | urn:agi-llid:4647 |
|---|---|
| Total Entities | 0 |
| Connectivity | 81 |
| Name | Myo7a |
| Description | myosin VIIA |
| Notes | This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] |
| Ariadne Ontology | Actomyosin based movement |
|---|
| GO Molecular Function | protein complex binding |
|---|---|
| calmodulin binding | |
| protein domain specific binding | |
| actin binding | |
| actin filament binding | |
| protein homodimerization activity | |
| nucleotide binding | |
| ADP binding | |
| ATP binding | |
| motor activity | |
| microfilament motor activity | |
| actin-dependent ATPase activity |
| GO Cellular Component | synapse |
|---|---|
| stereocilium | |
| lysosomal membrane | |
| myosin complex | |
| myosin VII complex | |
| apical plasma membrane | |
| photoreceptor inner segment | |
| cytoplasm | |
| cytosol | |
| cell cortex | |
| melanosome | |
| cytoskeleton | |
| microvillus | |
| photoreceptor outer segment | |
| photoreceptor connecting cilium |
| GO Biological Process | eye photoreceptor cell development |
|---|---|
| mechanoreceptor differentiation | |
| inner ear receptor cell differentiation | |
| auditory receptor cell differentiation | |
| actin filament-based movement | |
| pigment granule localization | |
| cell projection organization | |
| phagolysosome assembly | |
| lysosome organization | |
| auditory receptor cell stereocilium organization | |
| inner ear morphogenesis | |
| inner ear development | |
| post-embryonic organ morphogenesis | |
| sensory perception | |
| equilibrioception | |
| sensory perception of light stimulus | |
| visual perception | |
| sensory perception of sound | |
| transport | |
| pigment granule transport | |
| intracellular protein transport | |
| phagocytosis |
| Pathway | auditory mechanotransduction pathway |
|---|
| Group | Actomyosin based movement |
|---|---|
| eye photoreceptor cell development | |
| mechanoreceptor differentiation | |
| inner ear receptor cell differentiation | |
| auditory receptor cell differentiation | |
| actin filament-based movement | |
| pigment granule localization | |
| cell projection organization | |
| phagolysosome assembly | |
| lysosome organization | |
| auditory receptor cell stereocilium organization | |
| inner ear morphogenesis | |
| inner ear development | |
| post-embryonic organ morphogenesis | |
| sensory perception | |
| equilibrioception | |
| sensory perception of light stimulus | |
| visual perception | |
| sensory perception of sound | |
| transport | |
| pigment granule transport | |
| intracellular protein transport | |
| phagocytosis | |
| protein complex binding | |
| calmodulin binding | |
| protein domain specific binding | |
| actin binding | |
| actin filament binding | |
| protein homodimerization activity | |
| nucleotide binding | |
| ADP binding | |
| ATP binding | |
| motor activity | |
| microfilament motor activity | |
| actin-dependent ATPase activity | |
| synapse | |
| stereocilium | |
| lysosomal membrane | |
| myosin complex | |
| myosin VII complex | |
| apical plasma membrane | |
| photoreceptor inner segment | |
| cytoplasm | |
| cytosol | |
| cell cortex | |
| melanosome | |
| cytoskeleton | |
| microvillus | |
| photoreceptor outer segment | |
| photoreceptor connecting cilium |
| MedScan ID | 4647 |
|---|
| Hugo ID | 7606 |
|---|
| Human chromosome position | 11q13.5 |
|---|
| LocusLink ID | 4647 |
|---|---|
| 17921 | |
| 266714 |
| Alias | DFNB2 |
|---|---|
| MYU7A | |
| NSRD2 | |
| USH1B | |
| DFNA11 | |
| MYOVIIA | |
| unconventional myosin-VIIa | |
| myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) | |
| Hdb | |
| sh1 | |
| Myo7 | |
| sh-1 | |
| polka | |
| nmf371 | |
| shaker 1 | |
| myosin-VIIa | |
| motor protein | |
| OTTMUSP00000019225 | |
| OTTHUMP00000202524 | |
| OTTHUMP00000202525 | |
| OTTMUSP00000019224 | |
| Usher syndrome 1B (, severe | |
| OTTMUSP00000019227 | |
| OTTMUSP00000019226 | |
| shaker I | |
| sh I | |
| deafness, autosomal dominant 11 | |
| deafness, autosomal recessive 2 | |
| Myo7a | |
| Myosin VIIA | |
| myosin viia (usher syndrome 1b | |
| deafness, autosomal recessive II |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 276903 |
|---|---|
| 601317 | |
| 600060 | |
| 276900 |
| Unigene ID | Hs.370421 |
|---|---|
| Mm.1403 | |
| Rn.86641 |
| KEGG ID | hsa:4647 |
|---|---|
| mmu:17921 | |
| rno:266714 |
| Swiss-Prot Accession | Q13402 |
|---|---|
| B9A012 | |
| F8VUN5 | |
| P97479 | |
| Q5MJ56 | |
| Q8CJE3 | |
| E9QLP7 | |
| Q5MJ57 | |
| P78427 | |
| Q13321 | |
| Q14785 | |
| Q92821 | |
| Q92822 |
| GO ID | 0005524 |
|---|---|
| 0051015 | |
| 0005516 | |
| 0000146 | |
| 0019904 | |
| 0030048 | |
| 0060088 | |
| 0050957 | |
| 0042462 | |
| 0006886 | |
| 0007040 | |
| 0001845 | |
| 0051904 | |
| 0048563 | |
| 0050953 | |
| 0007605 | |
| 0007601 | |
| 0016324 | |
| 0005938 | |
| 0005829 | |
| 0005765 | |
| 0042470 | |
| 0016459 | |
| 0032391 | |
| 0001917 | |
| 0001750 | |
| 0032420 | |
| 0045202 | |
| 0043531 | |
| 0003779 | |
| 0030898 | |
| 0003774 | |
| 0000166 | |
| 0032403 | |
| 0042803 | |
| 0042491 | |
| 0030030 | |
| 0048839 | |
| 0042472 | |
| 0060113 | |
| 0042490 | |
| 0006909 | |
| 0051875 | |
| 0007600 | |
| 0006810 | |
| 0005737 | |
| 0005856 | |
| 0005902 | |
| 0031477 |
| PIR ID | T30870 |
|---|---|
| A59255 | |
| A59257 | |
| I61697 |
| Swiss-Prot ID | MYO7A_MOUSE |
|---|---|
| MYO7A_HUMAN |
| Cell Localization | Cytoplasm |
|---|---|
| cell cortex | |
| cytoskeleton |
| IPI ID | IPI00125593 |
|---|---|
| IPI00775946 | |
| IPI00013193 | |
| IPI00215753 | |
| IPI00215754 | |
| IPI00215756 | |
| IPI00215758 | |
| IPI00215759 | |
| IPI00936807 |
| Mouse chromosome position | 7 48.1 cM |
|---|
| Rat chromosome position | 1q32 |
|---|
| Homologene ID | 219 |
|---|
| MGI ID | 104510 |
|---|
| RGD ID | 628830 |
|---|
| Primary Cell Localization | Cytoplasm |
|---|