MYO5A myosin VA [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYO5Aprovided by HGNC
Official Full Name: myosin VAprovided by HGNC
Primary source: HGNC:HGNC:7602
See related: Ensembl:ENSG00000197535 MIM:160777; Vega:OTTHUMG00000137383
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GS1; MYO5; MYH12; MYR12
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]
Expression: Broad expression in brain (RPKM 28.8), skin (RPKM 5.7) and 20 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 15q21.2

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	15	NC_000015.10 (52307283..52529050, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (52599480..52821247, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

the essential melanocyte-specific transcription factor MITF regulates expression of the MYO5A gene, which encodes the molecular motor myosin-Va.
Title: MYO5A Gene Is a Target of MITF in Melanocytes.
human cytomegalovirus capsids associate with nuclear myosin Va and F-actin and that antagonism of myosin Va impairs capsid localization toward the nuclear rim and nuclear egress.
Title: A Role for Myosin Va in Human Cytomegalovirus Nuclear Egress.
Mechanochemical cycle of myosin-V has been reported.
Title: Simulating the dynamics of the mechanochemical cycle of myosin-V.
Data suggest that membrane tethering mediated by endosomal RAB11A is drastically and selectively stimulated by its cognate Rab effectors, class V myosins (MYO5A and MYO5B), in a GTP-dependent manner. (RAB11A = ras-related GTPase Rab-11A; MYO5 = myosin class V)
Title: Human Rab small GTPase- and class V myosin-mediated membrane tethering in a chemically defined reconstitution system.
ETV6-NTRK3, MYO5A-NTRK3 and MYH9-NTRK3 fusions are identified in Spitz tumours and demonstrated that NTRK3 fusions constitutively activate the mitogen-activated protein kinase, phosphoinositide 3-kinase and phospholipase Cgamma1 pathways in melanocytes.
Title: NTRK3 kinase fusions in Spitz tumours.
the inhibited Myo5a is equilibrated between the folded state, in which the Mlph-binding site is buried, and the preactivated state, in which the Mlph-binding site is exposed, and that Mlph is able to bind to the Myo5a in preactivated state and activates its motor function.
Title: The Globular Tail Domain of Myosin-5a Functions as a Dimer in Regulating the Motor Activity.
These findings reveal a new fast-acting energy conservation strategy halting growth by immobilizing myosin V in a newly described state on selectively stabilized actin cables.
Title: Rapid glucose depletion immobilizes active myosin V on stabilized actin cables.
Structural insights into the globular tails of the human type v myosins Myo5a, Myo5b, And Myo5c.
Title: Structural insights into the globular tails of the human type v myosins Myo5a, Myo5b, And Myo5c.
Data indicate that myosin Va interacted with multiple new Rab subfamilies including Rab6, Rab14 and Rab39B.
Title: Identification and characterization of multiple novel Rab-myosin Va interactions.
several crystal structures of the myosin Va or the myosin Vb globular tail domain that gives insights into how the motor is linked to the recycling membrane compartments via Rab11 or the melanophilin adaptor that binds to Rab27a.
Title: Structural basis of myosin V Rab GTPase-dependent cargo recognition.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Griscelli syndrome type 1 MedGen: C1859194 OMIM: 214450 GeneReviews: Not available	Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
Insulin processing, organism-specific biosystem (from REACTOME)
Insulin processing, organism-specific biosystemThe generation of insulin-containing secretory granules from proinsulin in the lumen of the endoplasmic reticulum (ER) can be described in 4 steps: formation of intramolecular disulfide bonds, format...
Membrane Trafficking, organism-specific biosystem (from REACTOME)
Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
Metabolism of proteins, organism-specific biosystem (from REACTOME)
Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
Translocation of GLUT4 to the plasma membrane, organism-specific biosystem (from REACTOME)
Translocation of GLUT4 to the plasma membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 (SLC2A4) glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose...
Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-19762 (e-PCR)
- UniSTS:79880

MYO5A_1542 (e-PCR)
- UniSTS:277520

D8S2279 (e-PCR)
- UniSTS:473907

STS-R41828 (e-PCR)
- UniSTS:70462

WI-12413 (e-PCR)
- UniSTS:23361

MARC_17607-17608:1018452356:1 (e-PCR)
- UniSTS:268354

RH69927 (e-PCR)
- UniSTS:49480

MYO5A (e-PCR)
- UniSTS:503148

RH80631 (e-PCR)
- UniSTS:93060

RH103873 (e-PCR)
- UniSTS:98198

SHGC-154423 (e-PCR)
- UniSTS:178095

A004G21 (e-PCR)
- UniSTS:77235

SHGC-154476 (e-PCR)
- UniSTS:178116

AB060208 (e-PCR)
- UniSTS:479955

RH66379 (e-PCR)
- UniSTS:33755

D15S1032 (e-PCR)
- UniSTS:14311

Homology

Homologs of the MYO5A gene: The MYO5A gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 231 organisms have orthologs with human gene MYO5A
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
RNA binding	HDA more info	PubMed
Rab GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
actin filament binding	IEA Inferred from Electronic Annotation more info
calcium ion binding	IEA Inferred from Electronic Annotation more info
calmodulin binding	IEA Inferred from Electronic Annotation more info
disordered domain specific binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IEA Inferred from Electronic Annotation more info
microfilament motor activity	NAS Non-traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
actin filament-based movement	NAS Non-traceable Author Statement more info	PubMed
cellular response to insulin stimulus	ISS Inferred from Sequence or Structural Similarity more info
chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
establishment of endoplasmic reticulum localization to postsynapse	IEA Inferred from Electronic Annotation more info
exocytosis	IEA Inferred from Electronic Annotation more info
hair follicle maturation	IEA Inferred from Electronic Annotation more info
insulin secretion	IEA Inferred from Electronic Annotation more info
locomotion involved in locomotory behavior	IEA Inferred from Electronic Annotation more info
long-chain fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
melanin biosynthetic process	IEA Inferred from Electronic Annotation more info
melanocyte differentiation	IEA Inferred from Electronic Annotation more info
melanosome transport	NAS Non-traceable Author Statement more info	PubMed
myelination	IEA Inferred from Electronic Annotation more info
odontogenesis	IEA Inferred from Electronic Annotation more info
post-Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
NOT regulation of Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IEA Inferred from Electronic Annotation more info
regulation of postsynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
secretory granule localization	IEA Inferred from Electronic Annotation more info
synapse organization	IEA Inferred from Electronic Annotation more info
vesicle transport along actin filament	IMP Inferred from Mutant Phenotype more info	PubMed
vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
colocalizes_with actin filament	IDA Inferred from Direct Assay more info	PubMed
actomyosin	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with early endosome	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
extracellular exosome	HDA more info	PubMed
filopodium tip	IDA Inferred from Direct Assay more info	PubMed
glutamatergic synapse	IEA Inferred from Electronic Annotation more info
growth cone	NAS Non-traceable Author Statement more info	PubMed
insulin-responsive compartment	ISS Inferred from Sequence or Structural Similarity more info
intermediate filament	IEA Inferred from Electronic Annotation more info
colocalizes_with late endosome	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with lysosome	IDA Inferred from Direct Assay more info	PubMed
melanosome	IDA Inferred from Direct Assay more info	PubMed
membrane	HDA more info	PubMed
membrane	IDA Inferred from Direct Assay more info	PubMed
microtubule plus-end	IEA Inferred from Electronic Annotation more info
neuron projection	NAS Non-traceable Author Statement more info	PubMed
neuronal cell body	IEA Inferred from Electronic Annotation more info
colocalizes_with peroxisome	IDA Inferred from Direct Assay more info	PubMed
photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
postsynapse	IEA Inferred from Electronic Annotation more info
colocalizes_with recycling endosome	IDA Inferred from Direct Assay more info	PubMed
ruffle	IDA Inferred from Direct Assay more info	PubMed
smooth endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
unconventional myosin complex	IEA Inferred from Electronic Annotation more info
colocalizes_with vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: unconventional myosin-Va

Names: dilute myosin heavy chain, non-muscle; myosin V; myosin VA (heavy chain 12, myoxin); myosin, heavy polypeptide kinase; myosin-12; myosin-Va; myoxin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009887.1 RefSeqGene

Range

5001..226768

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_86

mRNA and Protein(s)

NM_000259.3 → NP_000250.3 unconventional myosin-Va isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC010674, AF090426, AK307600, BU738571, U90942

Consensus CDS

CCDS42037.1

UniProtKB/Swiss-Prot

Q9Y4I1

UniProtKB/TrEMBL

Q9UES4

Related

ENSP00000382177.3, OTTHUMP00000174452, ENST00000399231.7, OTTHUMT00000268102

Conserved Domains (7) summary

smart00015
Location:813 → 835

IQ; Calmodulin-binding motif

cd15478
Location:1481 → 1855

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain

pfam00063
Location:72 → 751

Myosin_head; Myosin head (motor domain)

pfam12718
Location:963 → 1098

Tropomyosin_1; Tropomyosin like

pfam15898
Location:942 → 1041

PRKG1_interact; cGMP-dependent protein kinase interacting domain

cl23720
Location:999 → 1098

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
NM_001142495.1 → NP_001135967.1 unconventional myosin-Va isoform 2

See identical proteins and their annotated locations for NP_001135967.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, resulting in a shorter isoform (2), as compared to variant 1.

Source sequence(s)

AB290180, AC010674, BU738571, Y07759

Consensus CDS

CCDS45262.1

UniProtKB/TrEMBL

A8CDT9

Related

ENSP00000348693.6, OTTHUMP00000249029, ENST00000356338.10, OTTHUMT00000419828

Conserved Domains (7) summary

smart00015
Location:813 → 835

IQ; Calmodulin-binding motif

cd15478
Location:1454 → 1828

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain

pfam00063
Location:72 → 751

Myosin_head; Myosin head (motor domain)

pfam12718
Location:963 → 1098

Tropomyosin_1; Tropomyosin like

pfam15898
Location:942 → 1041

PRKG1_interact; cGMP-dependent protein kinase interacting domain

cl23720
Location:999 → 1098

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p12 Primary Assembly

Range

52307283..52529050 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011521606.2 → XP_011519908.2 unconventional myosin-Va isoform X1
XM_005254397.4 → XP_005254454.1 unconventional myosin-Va isoform X3

UniProtKB/Swiss-Prot

Q9Y4I1

Related

ENSP00000451109.1, OTTHUMP00000245239, ENST00000553916.5

Conserved Domains (7) summary

smart00015
Location:813 → 835

IQ; Calmodulin-binding motif

cd15478
Location:1506 → 1880

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain

pfam00063
Location:72 → 751

Myosin_head; Myosin head (motor domain)

pfam12718
Location:963 → 1098

Tropomyosin_1; Tropomyosin like

pfam15898
Location:942 → 1041

PRKG1_interact; cGMP-dependent protein kinase interacting domain

cl23720
Location:999 → 1098

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
XM_017022227.2 → XP_016877716.1 unconventional myosin-Va isoform X7
XM_011521610.3 → XP_011519912.2 unconventional myosin-Va isoform X6
XM_011521607.3 → XP_011519909.2 unconventional myosin-Va isoform X2
XM_011521612.3 → XP_011519914.2 unconventional myosin-Va isoform X9
XM_011521611.3 → XP_011519913.2 unconventional myosin-Va isoform X8
XM_011521609.3 → XP_011519911.2 unconventional myosin-Va isoform X5
XM_011521608.3 → XP_011519910.2 unconventional myosin-Va isoform X4