MYO5A

MYO5A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4J5L, 4LX1, 4LX2, 4LLI, 4D07
Identifiers
Aliases	MYO5A, GS1, MYH12, MYO5, MYR12, myosin VA
External IDs	OMIM: 160777 MGI: 105976 HomoloGene: 20100 GeneCards: MYO5A
Gene ontology Molecular function • calcium ion binding • nucleotide binding • calmodulin binding • microfilament motor activity • Rab GTPase binding • actin binding • poly(A) RNA binding • motor activity • ATP binding Cellular component • cytoplasm • recycling endosome • vesicle • cytosol • late endosome • Golgi apparatus • membrane • growth cone • ruffle • melanosome • insulin-responsive compartment • photoreceptor outer segment • peroxisome • secretory granule • microtubule plus-end • filopodium tip • neuronal cell body • early endosome • endoplasmic reticulum • actin filament • neuron projection • lysosome • actomyosin • intermediate filament • extracellular exosome • myosin complex Biological process • regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity • melanin biosynthetic process • synapse organization • insulin secretion • secretory granule localization • melanosome localization • actin filament-based movement • post-Golgi vesicle-mediated transport • odontogenesis • endoplasmic reticulum localization • melanin metabolic process • regulation of Golgi organization • long-chain fatty acid biosynthetic process • melanosome transport • transport • cellular response to insulin stimulus • vesicle transport along actin filament • protein transport • developmental pigmentation • myelination • pigmentation • protein localization to plasma membrane • melanocyte differentiation • locomotion involved in locomotory behavior • vesicle-mediated transport • visual perception • exocytosis • chemical synaptic transmission Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4644	17918
Ensembl	ENSG00000197535	ENSMUSG00000034593
UniProt	Q9Y4I1	Q99104
RefSeq (mRNA)	NM_000259 NM_001142495	NM_010864
RefSeq (protein)	NP_000250.3	NP_034994.2
Location (UCSC)	Chr 15: 52.31 – 52.53 Mb	Chr 9: 75.07 – 75.22 Mb
PubMed search	[1]	[2]
Wikidata

Myosin-Va is a protein that in humans is encoded by the MYO5A gene.^[3][4][5]

Interactions

MYO5A has been shown to interact with DYNLL1,^[6] RAB27A^[7][8] and DYNLL2.^[6][9]

Clinical significance

Defects are associated with Griscelli syndrome type 1, also known as Elejalde syndrome.

Model organisms

Model organisms have been used in the study of MYO5A function. A conditional knockout mouse line, called Myo5a^{tm1e(KOMP)Wtsi[15][16]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[17][18][19]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[13][20] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.^[13] Male homozygous mutants had abnormal hair cycles, coat colouration and an increased susceptibility to bacterial infection.^[13]

See also

• Myosin

References

Further reading