MYO5A - Gene info - The Human Protein Atlas

Gene name

MYO5A (HGNC Symbol)

Synonyms

GS1, MYH12, MYO5, MYR12

Description

Myosin VA (heavy chain 12, myoxin) (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

Cytoband

q21.2

Chromosome location (bp)

52307283 - 52529050

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000197535 (version 78.38)

Entrez gene

4644

UniProt

Q9Y4I1 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MYO5A-001

ENSP00000382177
ENST00000399231

Q9Y4I1
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Q9Y4I1 [Direct mapping]
Unconventional myosin-Va
F8WE88 [Target identity:99%; Query identity:100%]
Unconventional myosin-Va {ECO:0000313|Ensembl:ENSP00000382179}
Q9UES4 [Target identity:11%; Query identity:100%]
Myosin V {ECO:0000313|EMBL:AAC83703.1}

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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)

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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:0006511 [ubiquitin-dependent protein catabolic process]
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:0015031 [protein 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: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 vesicular exosome]
GO:0072659 [protein localization to plasma membrane]

1855

215.4

MYO5A-003

ENSP00000458016
ENST00000568914

O95317
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O95317 [Target identity:100%; Query identity:100%]
Myosin V {ECO:0000313|EMBL:AAC83701.1}; Unconventional myosin-Va {ECO:0000313|Ensembl:ENSP00000458016}
Q9UES4 [Target identity:89%; Query identity:100%]
Myosin V {ECO:0000313|EMBL:AAC83703.1}

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Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

231

26.8

MYO5A-007

ENSP00000451109
ENST00000553916

G3V394
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G3V394 [Target identity:100%; Query identity:100%]
Unconventional myosin-Va {ECO:0000313|Ensembl:ENSP00000451109}
O95318 [Target identity:11%; Query identity:100%]
Myosin V {ECO:0000313|EMBL:AAC83704.1}
Q9UES3 [Target identity:9%; Query identity:100%]
Myosin V {ECO:0000313|EMBL:AAC83705.1}

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GO:0003774 [motor activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0008152 [metabolic process]
GO:0016459 [myosin complex]

1853

215.5

MYO5A-008

ENSP00000348693
ENST00000356338

Q9Y4I1
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Q9Y4I1 [Direct mapping]
Unconventional myosin-Va
Q9UES3 [Target identity:9%; Query identity:100%]
Myosin V {ECO:0000313|EMBL:AAC83705.1}

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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:0006511 [ubiquitin-dependent protein catabolic process]
GO:0006810 [transport]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0015031 [protein 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 vesicular exosome]
GO:0072659 [protein localization to plasma membrane]

1828

212.3

MYO5A-009

ENSP00000382174
ENST00000399228

Q9UES5
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Q9UES5 [Target identity:100%; Query identity:100%]
Myosin V {ECO:0000313|EMBL:AAC83702.1}; Unconventional myosin-Va {ECO:0000313|Ensembl:ENSP00000382174}

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228

26.5

MYO5A-010

ENSP00000382175
ENST00000399229

E7ERV5
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E7ERV5 [Target identity:100%; Query identity:100%]
Unconventional myosin-Va {ECO:0000313|Ensembl:ENSP00000382175}

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GO:0005515 [protein binding]
GO:0006511 [ubiquitin-dependent protein catabolic process]

585

MYO5A-201

ENSP00000350945
ENST00000358212

Q9UES4
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Q9UES4 [Target identity:11%; Query identity:100%]
Myosin V {ECO:0000313|EMBL:AAC83703.1}

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GO:0003774 [motor activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0016459 [myosin complex]

1855

215.3

MYO5A-202

ENSP00000382179
ENST00000399233

F8WE88
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F8WE88 [Target identity:99%; Query identity:100%]
Unconventional myosin-Va {ECO:0000313|Ensembl:ENSP00000382179}

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GO:0003774 [motor activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0016459 [myosin complex]

1855

215.4

MYO5A-203

ENSP00000481420
ENST00000613858

Q9UES3
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Q9UES3 [Target identity:9%; Query identity:100%]
Myosin V {ECO:0000313|EMBL:AAC83705.1}

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GO:0003774 [motor activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0016459 [myosin complex]

1828

212.2

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