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Details on Person UniProt:Q9Y4I1-2 MYO5A
| Class:Id | ReferenceIsoform:150719 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Fri February 6 2015;chain:2-1855 added on Fri February 6 2015;initiator methionine:1 for 150719 removed on Fri Nov 03 2023;initiator methionine: for 150719 added on Fri Nov 03 2023;initiator methionine: for 150719 removed on Fri Aug 15 2025;initiator methionine:1 for 150719 added on Fri Aug 15 2025 |
| _displayName | UniProt:Q9Y4I1-2 MYO5A |
| _timestamp | 2025-08-15 22:02:11 |
| chain | initiator methionine:1 chain:2-1855 |
| checksum | 78FD3B1D08D90A0A |
| comment | FUNCTION Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Can hydrolyze ATP in the presence of actin, which is essential for its function as a motor protein (PubMed:10448864). Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane (By similarity). May also be required for some polarization process involved in dendrite formation (By similarity).CATALYTIC ACTIVITY ATP + H2O = ADP + phosphate + H(+)SUBUNIT May be a homodimer, which associates with multiple calmodulin or myosin light chains (By similarity). Interacts with RIPL2, the interaction is required for its role in dendrite formation (By similarity). Interacts with MLPH (PubMed:12062444). Interacts with SYTL4 (By similarity). Interacts with MYRIP (By similarity). Interacts with RAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles (PubMed:22908308). Interacts with FMR1; this interaction occurs in association with polyribosome (By similarity).ALTERNATIVE PRODUCTS Detected in melanocytes.DISEASE The disease is caused by variants affecting the gene represented in this entry. Some patients who have MYO5A pathogenic variants and originally diagnosed with Griscelli syndrome 1 may rather have Elejalde syndrome.SIMILARITY Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.ONLINE INFORMATION MYO5A mutation db |
| description | recommendedName: Unconventional myosin-Va alternativeName: Dilute myosin heavy chain, non-muscle alternativeName: Myosin heavy chain 12 alternativeName: Myosin-12 alternativeName: Myoxin |
| geneName | MYO5A MYH12 |
| identifier | Q9Y4I1 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Actin-binding Alternative splicing ATP-binding Calmodulin-binding Coiled coil Motor protein Myosin Nucleotide-binding Phosphoprotein Protein transport Proteomics identification Reference proteome Repeat Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | MYO5A |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9002479] ENSEMBL:ENSG00000197535 MYO5A [Homo sapiens] |
| secondaryIdentifier | MYO5A_HUMAN A8MZC5 O60653 Q07902 Q16249 Q9UE30 Q9UE31 |
| sequenceLength | 1855 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q9Y4I1-2 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9Y4I1-2 MYO5A (150719)
