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Details on Person UniProt:Q8NEV4-2 MYO3A
| Class:Id | ReferenceIsoform:8965706 |
|---|---|
| _chainChangeLog | chain:1-1616 added on Fri February 17 2017 |
| _displayName | UniProt:Q8NEV4-2 MYO3A |
| _timestamp | 2025-05-21 21:37:55 |
| chain | chain:1-1616 |
| checksum | 7D126A7E22520574 |
| comment | FUNCTION Actin-dependent motor protein with a protein kinase activity, playing an essential role in hearing (PubMed:12032315, PubMed:29880844, PubMed:34788109). Probably also plays a role in vision. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (PubMed:29880844, PubMed:34788109).CATALYTIC ACTIVITY L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+)CATALYTIC ACTIVITY L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+)CATALYTIC ACTIVITY ATP + H2O = ADP + phosphate + H(+)SUBUNIT Interacts with MORN4 (PubMed:25822849). Interacts (via C-terminus) with ESPN and ESPNL (By similarity).SUBCELLULAR LOCATION Increased localization at the filodium tip seen in the presence of MORN4.ALTERNATIVE PRODUCTS Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY In the C-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.SIMILARITY In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. |
| created | [InstanceEdit:8964659] Weiser, JD |
| description | recommendedName: Myosin-IIIa ecNumber: 2.7.11.1 |
| geneName | MYO3A |
| identifier | Q8NEV4 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Actin-binding Alternative splicing ATP-binding Cell projection Cytoplasm Cytoskeleton Deafness Disease variant Hearing Kinase Motor protein Myosin Non-syndromic deafness Nucleotide-binding Proteomics identification Reference proteome Repeat Sensory transduction Serine/threonine-protein kinase Transferase Vision |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | MYO3A |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9001288] ENSEMBL:ENSG00000095777 MYO3A [Homo sapiens] |
| secondaryIdentifier | MYO3A_HUMAN Q4G0X2 Q5VZ28 Q8WX17 Q9NYS8 |
| sequenceLength | 1616 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q8NEV4-2 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q8NEV4-2 MYO3A (8965706)
