Tissue expression of MYO5A - Summary - The Human Protein Atlas

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MYO5A

TISSUE

SUBCELL

CELL LINE

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN ANTIBODY/ANTIGEN


Dictionary

GENERAL INFORMATION ? »
Protein class Protein class the gene product belongs to according to selected gene lists. List of protein classes. Predicted localization Protein localization predicted from several bioinformatic algorithms. More info... Number of transcripts Number of protein-coding transcribed from this gene as defined by Ensembl.
Gene name	MYO5A
Gene description	Myosin VA (heavy chain 12, myoxin)
Protein class	Cancer-related genes Disease related genes Plasma proteins Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	9
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues, most abundant in CNS.

ANTIBODY RELIABILITY ? »
Data reliability description Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based annotation, indicated by "Pending RNA-based expert annotation", when applicable. Data reliability Data reliability score (score description), divided into supportive (premium) or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.
Data reliability description	Antibody staining consistent with RNA expression data.
Data reliability	Uncertain based on 1 antibody. HPA001356
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Lateral ventricle

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

N/A

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

N/A

Prostate

Seminal vesicle

N/A

Female tissues

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

PROTEIN EXPRESSION OVERVIEW

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Organ

Expression

RNA EXPRESSION OVERVIEW

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HPA dataset

RNA tissue category:

Expressed in all

Organ

Expression

GTEx dataset

RNA tissue category:

Expressed in all

Organ

Expression

GENE INFORMATION ? »
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
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	15
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)
neXtProt	NX_Q9Y4I1
Antibodypedia	MYO5A antibodies

PROTEIN BROWSER

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ENST00000356338		ENST00000358212		ENST00000399228		ENST00000399229		ENST00000399231		ENST00000399233		ENST00000553916		ENST00000568914		ENST00000613858

PROTEIN INFORMATION

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Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)
MYO5A-001	ENSP00000382177 ENST00000399231	Q9Y4I1 Show all » « Hide 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}	Show » « Hide 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 » « Hide 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	No
MYO5A-003	ENSP00000458016 ENST00000568914	O95317 Show all » « Hide 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}	Show » « Hide 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	No
MYO5A-007	ENSP00000451109 ENST00000553916	G3V394 Show all » « Hide 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}	Show » « Hide 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)	Show » « Hide 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	No
MYO5A-008	ENSP00000348693 ENST00000356338	Q9Y4I1 Show all » « Hide Q9Y4I1 [Direct mapping] Unconventional myosin-Va Q9UES3 [Target identity:9%; Query identity:100%] Myosin V {ECO:0000313\|EMBL:AAC83705.1}	Show » « Hide 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 » « Hide 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	No
MYO5A-009	ENSP00000382174 ENST00000399228	Q9UES5 Show all » « Hide Q9UES5 [Target identity:100%; Query identity:100%] Myosin V {ECO:0000313\|EMBL:AAC83702.1}; Unconventional myosin-Va {ECO:0000313\|Ensembl:ENSP00000382174}	Show » « Hide 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)		228	26.5	No
MYO5A-010	ENSP00000382175 ENST00000399229	E7ERV5 Show all » « Hide E7ERV5 [Target identity:100%; Query identity:100%] Unconventional myosin-Va {ECO:0000313\|Ensembl:ENSP00000382175}	Show » « Hide 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)	Show » « Hide GO:0005515 [protein binding] GO:0006511 [ubiquitin-dependent protein catabolic process]	585	67	No
MYO5A-201	ENSP00000350945 ENST00000358212	Q9UES4 Show all » « Hide Q9UES4 [Target identity:11%; Query identity:100%] Myosin V {ECO:0000313\|EMBL:AAC83703.1}	Show » « Hide 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)	Show » « Hide 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	No
MYO5A-202	ENSP00000382179 ENST00000399233	F8WE88 Show all » « Hide F8WE88 [Target identity:99%; Query identity:100%] Unconventional myosin-Va {ECO:0000313\|Ensembl:ENSP00000382179}	Show » « Hide 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)	Show » « Hide 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	No
MYO5A-203	ENSP00000481420 ENST00000613858	Q9UES3 Show all » « Hide Q9UES3 [Target identity:9%; Query identity:100%] Myosin V {ECO:0000313\|EMBL:AAC83705.1}	Show » « Hide 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)	Show » « Hide 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	No

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

Protein class

Predicted localization

Number of transcripts

RNA tissue category

Protein evidence

Protein localization

Data reliability description

Data reliability

RNA expression (FPKM)

Protein expression (score)

HPA dataset

RNA tissue category HPA

GTEx dataset

RNA tissue category GTEx