| バックグラウンド: | This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. |
| UniProt Protein Function: | Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. |
| NCBI Summary: | This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008] |
| UniProt Code: | Q9Y4I1 |
| NCBI GenInfo Identifier: | 215982791 |
| NCBI Gene ID: | 4644 |
| NCBI Accession: | NP_000250.3 |
| UniProt Secondary Accession: | Q9Y4I1,O60653, Q07902, Q16249, Q9UE30, Q9UE31, A8MZC5 |
| UniProt Related Accession: | Q9Y4I1 |
| Molecular Weight: | |
| NCBI Full Name: | unconventional myosin-Va isoform 1 |
| NCBI Synonym Full Names: | myosin VA |
| NCBI Official Symbol: | MYO5A |
| NCBI Official Synonym Symbols: | GS1; MYO5; MYH12; MYR12 |
| NCBI Protein Information: | unconventional myosin-Va |
| UniProt Protein Name: | Unconventional myosin-Va |
| UniProt Synonym Protein Names: | Dilute myosin heavy chain, non-muscle; Myosin heavy chain 12; Myosin-12; Myoxin |
| Protein Family: | Unconventional myosin |
| UniProt Gene Name: | MYO5A |
