InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: MYO5A

Summary

InnateDB Gene

IDBG-12551.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYO5A

Gene Name

myosin VA (heavy chain 12, myoxin)

Synonyms

GS1; MYH12; MYO5; MYR12

Species

Homo sapiens

Ensembl Gene

ENSG00000197535

Encoded Proteins

IDBP-12553

myosin VA (heavy chain 12, myoxin)

IDBP-12557

myosin VA (heavy chain 12, myoxin)

IDBP-231054

myosin VA (heavy chain 12, myoxin)

IDBP-231056

myosin VA (heavy chain 12, myoxin)

IDBP-231058

myosin VA (heavy chain 12, myoxin)

IDBP-231060

myosin VA (heavy chain 12, myoxin)

IDBP-603907

myosin VA (heavy chain 12, myoxin)

IDBP-590283

myosin VA (heavy chain 12, myoxin)

IDBP-745577

IDBP-807889

myosin VA (heavy chain 12, myoxin)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 15:52307283-52529050

Strand

Reverse strand

Band

q21.2

Transcripts

ENST00000358212	ENSP00000350945
ENST00000356338	ENSP00000348693
ENST00000399233	ENSP00000382179
ENST00000399231	ENSP00000382177
ENST00000399229	ENSP00000382175
ENST00000399228	ENSP00000382174
ENST00000465290
ENST00000469611
ENST00000553916	ENSP00000451109
ENST00000556196	ENSP00000451178
ENST00000561810
ENST00000568914	ENSP00000458016
ENST00000613858	ENSP00000481420

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	25 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000146	microfilament motor activity
GO:0003774	motor activity
GO:0003779	actin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005524	ATP binding
GO:0017137	Rab GTPase binding
GO:0044822	poly(A) RNA binding
GO:0051015	actin filament binding

Biological Process

GO:0006511	ubiquitin-dependent protein catabolic process
GO:0006582	melanin metabolic process
GO:0006810	transport
GO:0006887	exocytosis
GO:0007268	synaptic transmission
GO:0007601	visual perception
GO:0008152	metabolic process
GO:0015031	protein transport
GO:0016192	vesicle-mediated transport
GO:0030048	actin filament-based movement
GO:0030073	insulin secretion
GO:0030318	melanocyte differentiation
GO:0031585	regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0031987	locomotion involved in locomotory behavior
GO:0032252	secretory granule localization
GO:0032400	melanosome localization
GO:0032402	melanosome transport
GO:0032869	cellular response to insulin stimulus
GO:0042438	melanin biosynthetic process
GO:0042476	odontogenesis
GO:0042552	myelination
GO:0042640	anagen
GO:0042759	long-chain fatty acid biosynthetic process
GO:0044267	cellular protein metabolic process
GO:0048066	developmental pigmentation
GO:0050808	synapse organization
GO:0051643	endoplasmic reticulum localization
GO:0061024	membrane organization
GO:0072659	protein localization to plasma membrane

Cellular Component

GO:0001726	ruffle
GO:0001750	photoreceptor outer segment
GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0005882	intermediate filament
GO:0016020	membrane
GO:0016459	myosin complex
GO:0030141	secretory granule
GO:0030426	growth cone
GO:0032593	insulin-responsive compartment
GO:0035371	microtubule plus-end
GO:0042470	melanosome
GO:0042641	actomyosin
GO:0043005	neuron projection
GO:0043025	neuronal cell body