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Details on Person UniProt:P97479-1 Myo7a
| Class:Id | ReferenceIsoform:8968412 |
|---|---|
| _chainChangeLog | chain:1-2215 added on Fri February 17 2017 |
| _displayName | UniProt:P97479-1 Myo7a |
| _timestamp | 2024-05-14 17:29:48 |
| chain | chain:1-2215 |
| checksum | D942FC7674B75EC7 |
| comment | FUNCTION Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. Mediates intracellular transport of RPE65 in the retina pigment epithelium. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity.SUBUNIT Might homodimerize in a two headed molecule through the formation of a coiled-coil rod (By similarity). Identified in a complex with USH1C and USH1G (By similarity). Interacts with MYRIP (PubMed:12221080). Interacts with RPE65 (PubMed:21493626). Interacts with CIB2 (By similarity). May interact with CALM (By similarity). Interacts with WHRN (PubMed:15590698). Interacts with PLEKHB1 (via PH domain) (PubMed:15976448). Interacts with PCDH15 (PubMed:16481439). Interacts with TWF2 (PubMed:19774077). Interacts with USH1G (PubMed:21311020). Interacts with MYH9 (PubMed:27331610). Interacts (via MyTH4-FERM domains) with cytoplasmic regions of ADGRV1 and USH2A (PubMed:17567809). Interacts with PDZD7 (via MyTH4-FERM domains) (PubMed:27525485). Interacts with CALML4 (By similarity).INTERACTION In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region (By similarity). In retinal pigment epithelial cells colocalizes with a subset of melanosomes, displays predominant localization to stress fiber-like structures and some localization to cytoplasmic puncta (By similarity). Detected at the tip of cochlear hair cell stereocilia (PubMed:27525485). The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin (By similarity).ALTERNATIVE PRODUCTS Detected in mechanosensory stereocilia of cochlea hair cells (at protein level). Expressed in the retina, cochlea, kidney and liver.DEVELOPMENTAL STAGE In the inner ear of the 16.5 day old embryo, expressed only in the cochlear and vestibular sensory hair cells. In addition, expression also occurs in the epithelial cells of the small intestine, hepatocytes, and choroidal plexus.DOMAIN The SAH (single alpha-helix) region is characterized by a high content of charged residues which are predicted to stabilize the alpha-helical structure by ionic bonds.DISEASE Defects in Myo7a are the cause of the shaker-1 (sh-1) phenotype which affects only the inner ear. Sh-1 homozygote mutants show hyperactivity, head tossing and circling due to vestibular dysfunction, together with typical neuroepithelial-type cochlear defects involving dysfunction and progressive degeneration of the organ of Corti.SIMILARITY Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.CAUTION Represents an unconventional myosin. This protein should not be confused with the conventional myosin-7 (MYH7).CAUTION Originally predicted to contain a coiled coil domain but proposed to contain a stable SAH domain instead. |
| created | [InstanceEdit:8964659] Weiser, JD |
| description | recommendedName: Unconventional myosin-VIIa |
| geneName | Myo7a Myo7 |
| identifier | P97479 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Actin-binding Alternative splicing ATP-binding Calmodulin-binding Cytoplasm Cytoskeleton Deafness Disease variant Hearing Motor protein Myosin Nucleotide-binding Phosphoprotein Reference proteome Repeat SH3 domain Synapse Transport |
| modified | [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9715482] Weiser, JD [InstanceEdit:9796772] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 |
| name | Myo7a |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | MYO7A_MOUSE E9QLP7 Q5MJ57 |
| sequenceLength | 2215 |
| species | [Species:48892] Mus musculus |
| variantIdentifier | P97479-1 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P97479-1 Myo7a (8968412)
