InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYO5A

Summary

InnateDB Protein

IDBP-12557.7

Last Modified

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

Gene Symbol

MYO5A

Protein Name

myosin VA (heavy chain 12, myoxin)

Synonyms

GS1; MYH12; MYO5; MYR12;

Species

Homo sapiens

Ensembl Protein

ENSP00000348693

InnateDB Gene

IDBG-12551 (MYO5A)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:10448864}.

Subcellular Localization

Disease Associations

Griscelli syndrome 1 (GS1) [MIM:214450]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities. {ECO:0000269PubMed:10704277}. Note=The disease is caused by mutations affecting the gene represented in this entry.Griscelli syndrome 3 (GS3) [MIM:609227]: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. {ECO:0000269PubMed:12897212}. Note=The disease is caused by mutations affecting the gene represented in this entry.Elejalde syndrome (ELEJAS) [MIM:256710]: Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I. {ECO:0000269PubMed:12058346}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in melanocytes.

Comments

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:0005515	protein binding
GO:0005524	ATP binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006511	ubiquitin-dependent protein catabolic process
GO:0006810	transport
GO:0015031	protein transport
GO:0016192	vesicle-mediated transport
GO:0030048	actin filament-based movement
GO:0032869	cellular response to insulin stimulus
GO:0044267	cellular protein metabolic process
GO:0061024	membrane organization
GO:0072659	protein localization to plasma membrane

Cellular Component

GO:0001726	ruffle
GO:0005737	cytoplasm
GO:0016020	membrane
GO:0016459	myosin complex
GO:0030426	growth cone
GO:0032593	insulin-responsive compartment
GO:0043005	neuron projection

Protein Structure and Domains

PDB ID

InterPro

IPR000048 IQ motif, EF-hand binding site
IPR001609 Myosin head, motor domain
IPR002710 Dilute
IPR016072 SKP1 component, dimerisation
IPR018444 Dil domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00612
PF00063
PF01466
PF01843

PRINTS

PR00193

PIRSF

SMART

SM00015
SM00242

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt