MYO5A (myosin VA)

2010-01-01  

Identity

HGNC
LOCATION
15q21.2
LOCUSID
ALIAS
GS1,MYH12,MYO5,MYR12
FUSION GENES

Other Information

Locus ID:

NCBI: 4644
MIM: 160777
HGNC: 7602
Ensembl: ENSG00000197535

Variants:

dbSNP: 4644
ClinVar: 4644
TCGA: ENSG00000197535
COSMIC: MYO5A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197535ENST00000356338Q9Y4I1
ENSG00000197535ENST00000358212F8W6H6
ENSG00000197535ENST00000399228Q9UES5
ENSG00000197535ENST00000399229E7ERV5
ENSG00000197535ENST00000399231Q9Y4I1
ENSG00000197535ENST00000399233F8WE88
ENSG00000197535ENST00000553916G3V394
ENSG00000197535ENST00000556196G3V3C9
ENSG00000197535ENST00000568914O95317
ENSG00000197535ENST00000613858A0A087WY00

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Insulin processingREACTOMER-HSA-264876
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
119809082002A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport.109
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
128972122003Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).56
157885652005Myosin Va transports dense core secretory vesicles in pancreatic MIN6 beta-cells.53
190082342009Alternative splicing in class V myosins determines association with Rab10.49
157721612005CART: an Hrs/actinin-4/BERP/myosin V protein complex required for efficient receptor recycling.45
240064912013Identification and characterization of multiple novel Rab-myosin Va interactions.33
178982342007Myosin va mediates docking of secretory granules at the plasma membrane.32
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
170294132006Alternatively spliced exon B of myosin Va is essential for binding the tail-associated light chain shared by dynein.31

Citation

Dessen P

MYO5A (myosin VA)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51309/myo5a