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MYO5A

CANCER ATLAS

Gene description

 Myosin VA

Protein class

 Cancer-related genes, Disease related genes, Plasma proteins, Predicted intracellular proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA001356

GENE INFORMATION

Gene name

 MYO5A (HGNC Symbol)

Synonyms

 GS1, MYH12, MYO5, MYR12

Description

 Myosin VA (HGNC Symbol)

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]

Chromosome

 15

Cytoband

 q21.2

Chromosome location (bp)

 52307283 - 52529050

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000197535 (version 83.38)

Entrez gene

 4644

UniProt

 Q9Y4I1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9Y4I1

Antibodypedia

 MYO5A antibodies

PROTEIN BROWSER
MYO5A-001
MYO5A-003
MYO5A-007
MYO5A-008
MYO5A-009
MYO5A-010
MYO5A-201
MYO5A-202
MYO5A-203

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MYO5A-001
ENSP00000382177
ENST00000399231
Q9Y4I1 [Direct mapping]
Unconventional myosin-Va
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000146 [microfilament motor activity]
GO:0001726 [ruffle]
GO:0001750 [photoreceptor outer segment]
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:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005777 [peroxisome]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005882 [intermediate filament]
GO:0005884 [actin filament]
GO:0006582 [melanin metabolic process]
GO:0006810 [transport]
GO:0006887 [exocytosis]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0007268 [synaptic transmission]
GO:0007601 [visual perception]
GO:0016020 [membrane]
GO:0016192 [vesicle-mediated transport]
GO:0016459 [myosin complex]
GO:0017137 [Rab GTPase binding]
GO:0030048 [actin filament-based movement]
GO:0030050 [vesicle transport along actin filament]
GO:0030073 [insulin secretion]
GO:0030141 [secretory granule]
GO:0030318 [melanocyte differentiation]
GO:0030426 [growth cone]
GO:0031585 [regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity]
GO:0031982 [vesicle]
GO:0031987 [locomotion involved in locomotory behavior]
GO:0032252 [secretory granule localization]
GO:0032400 [melanosome localization]
GO:0032402 [melanosome transport]
GO:0032433 [filopodium tip]
GO:0032593 [insulin-responsive compartment]
GO:0032869 [cellular response to insulin stimulus]
GO:0035371 [microtubule plus-end]
GO:0042438 [melanin biosynthetic process]
GO:0042470 [melanosome]
GO:0042476 [odontogenesis]
GO:0042552 [myelination]
GO:0042641 [actomyosin]
GO:0042759 [long-chain fatty acid biosynthetic process]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0044267 [cellular protein metabolic process]
GO:0044822 [poly(A) RNA binding]
GO:0048066 [developmental pigmentation]
GO:0050808 [synapse organization]
GO:0051643 [endoplasmic reticulum localization]
GO:0055037 [recycling endosome]
GO:0061024 [membrane organization]
GO:0070062 [extracellular exosome]
GO:0072659 [protein localization to plasma membrane]
Show all
 1855 aa
215.4 kDa 		No 0
MYO5A-003
ENSP00000458016
ENST00000568914
O95317 [Direct mapping]
Myosin V; Unconventional myosin-Va
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
 231 aa
26.8 kDa 		No 0
MYO5A-007
ENSP00000451109
ENST00000553916
G3V394 [Direct mapping]
Unconventional myosin-Va
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003774 [motor activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0008152 [metabolic process]
GO:0016459 [myosin complex]
Show all
 1853 aa
215.5 kDa 		No 0
MYO5A-008
ENSP00000348693
ENST00000356338
Q9Y4I1 [Direct mapping]
Unconventional myosin-Va
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000146 [microfilament motor activity]
GO:0001726 [ruffle]
GO:0003774 [motor activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005777 [peroxisome]
GO:0005783 [endoplasmic reticulum]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0006810 [transport]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0016020 [membrane]
GO:0016192 [vesicle-mediated transport]
GO:0016459 [myosin complex]
GO:0017137 [Rab GTPase binding]
GO:0030048 [actin filament-based movement]
GO:0030050 [vesicle transport along actin filament]
GO:0030426 [growth cone]
GO:0031982 [vesicle]
GO:0032433 [filopodium tip]
GO:0032593 [insulin-responsive compartment]
GO:0032869 [cellular response to insulin stimulus]
GO:0043005 [neuron projection]
GO:0044267 [cellular protein metabolic process]
GO:0044822 [poly(A) RNA binding]
GO:0055037 [recycling endosome]
GO:0061024 [membrane organization]
GO:0070062 [extracellular exosome]
GO:0072659 [protein localization to plasma membrane]
Show all
 1828 aa
212.3 kDa 		No 0
MYO5A-009
ENSP00000382174
ENST00000399228
Q9UES5 [Direct mapping]
Myosin V; Unconventional myosin-Va
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
 228 aa
26.5 kDa 		No 0
MYO5A-010
ENSP00000382175
ENST00000399229
E7ERV5 [Direct mapping]
Unconventional myosin-Va
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
 585 aa
67 kDa 		No 0
MYO5A-201
ENSP00000350945
ENST00000358212
F8W6H6 [Direct mapping]
Unconventional myosin-Va
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003774 [motor activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0008152 [metabolic process]
GO:0016459 [myosin complex]
Show all
 1855 aa
215.3 kDa 		No 0
MYO5A-202
ENSP00000382179
ENST00000399233
F8WE88 [Direct mapping]
Unconventional myosin-Va
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003774 [motor activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0008152 [metabolic process]
GO:0016459 [myosin complex]
Show all
 1855 aa
215.4 kDa 		No 0
MYO5A-203
ENSP00000481420
ENST00000613858
A0A087WY00 [Direct mapping]
Unconventional myosin-Va
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003774 [motor activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0008152 [metabolic process]
GO:0016459 [myosin complex]
Show all
 1828 aa
212.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.