Myosin VA (MYO5A)

GS1; MYH12; MYO5; MYOXIN; MYR12; myosin V; myosin Va; Myosin,Heavy Polypeptide Kinase; Myosin Heavy Chain 12; Myoxin; Myosin V; Dilute myosin heavy chain, non-muscle

SPN	T358
HGNC	7602
MGI	105976
PubMed	15550542
RGD	3143
UniProt	Q9Y4I1
Wiki	MYO5A

MYO5A 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.

Reference

"Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene."
Nat. Genet. 16:289-292(1997) [PubMed] [Europe PMC] [Abstract]

Erratum
Nat. Genet. 23:373-373(1999)

"Analysis of the DNA sequence and duplication history of human chromosome 15."
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]

"Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene."
Genomics 19:407-416(1994) [PubMed] [Europe PMC] [Abstract]

"Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21."
Cytogenet. Cell Genet. 69:53-58(1995) [PubMed] [Europe PMC] [Abstract]

"Myosin-V is a processive actin-based motor."
Nature 400:590-593(1999) [PubMed] [Europe PMC] [Abstract]

"Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions."
FEBS Lett. 517:233-238(2002) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Rab10 and myosin-Va mediate insulin-stimulated GLUT4 storage vesicle translocation in adipocytes."
J. Cell Biol. 198:545-560(2012) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome."
J. Invest. Dermatol. 114:731-733(2000) [PubMed] [Europe PMC] [Abstract]

"Two genes are responsible for Griscelli syndrome at the same 15q21 locus."
Genomics 63:299-306(2000) [PubMed] [Europe PMC] [Abstract]

"Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A."
Am. J. Hum. Genet. 71:407-414(2002) [PubMed] [Europe PMC] [Abstract]

Erratum
Am. J. Hum. Genet. 71:1007-1007(2002)

"Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)."
J. Clin. Invest. 112:450-456(2003) [PubMed] [Europe PMC] [Abstract]