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; AllianceGenome:HGNC:7602
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) and neuroectodermal melanolysosomal disease, or Elejalde disease. [provided by RefSeq, Sep 2023]
Expression: Broad expression in brain (RPKM 28.8), skin (RPKM 5.7) and 20 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 15q21.2

Exon count:: 45

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (52307283..52529050, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (50115562..50337348, complement)
RS_2024_09	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

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MYO5A overexpression promotes invasion and correlates with low lymphocyte infiltration in head and neck squamous carcinoma.
Title: MYO5A overexpression promotes invasion and correlates with low lymphocyte infiltration in head and neck squamous carcinoma.
Modeling myosin Va liposome transport through actin filament networks reveals a percolation threshold that modulates transport properties.
Title: Modeling myosin Va liposome transport through actin filament networks reveals a percolation threshold that modulates transport properties.
MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1.
Title: MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1.
Identification of three predictors of gastric cancer progression and prognosis.
Title: Identification of three predictors of gastric cancer progression and prognosis.
LRRK2-phosphorylated Rab10 sequesters Myosin Va with RILPL2 during ciliogenesis blockade.
Title: LRRK2-phosphorylated Rab10 sequesters Myosin Va with RILPL2 during ciliogenesis blockade.
LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation.
Title: LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation.
Spermine synthase (SMS) localized together with myosin Va (MyoVa) in cytoplasmic vesicles of breast cancer MCF-7 and neuroblastoma SH-SY5Y cell lines, known to produce exosomes, supporting a role for MyoVa in SMS expression and targeting.
Title: Myosin Va interacts with the exosomal protein spermine synthase.
demonstrate that high expression of myosin 5a may be an independent prognostic factor in patients with Esophageal squamous cell carcinoma
Title: Myosin 5a regulates tumor migration and epithelial-mesenchymal transition in esophageal squamous cell carcinoma: utility as a prognostic factor.
Depletion of myosin-Va significantly inhibits the attachment of preciliary vesicles to the distal appendages of the mother centriole and decreases cilia assembly. Myosin-Va functions upstream of EHD1- and Rab11-mediated ciliary vesicle formation.
Title: Myosin-Va is required for preciliary vesicle transportation to the mother centriole during ciliogenesis.
our studies revealed RPGRIP1L as a novel MyoVa-binding protein - the first to be demonstrated to interact with MyoVa at the centrosome - and uncover an unprecedented link between MyoVa and ciliogenesis, providing new perspectives for studies aiming to better understand why defects in MyoVa cause neurological disorders in Griscelli syndrome patients.
Title: The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

Go to the top of the page Help

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

EBI 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. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament-based movement	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to insulin stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome transport	NAS Non-traceable Author Statement more info	PubMed
involved_in post-Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
NOT involved_in regulation of Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle transport along actin filament	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with actin filament	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
colocalizes_with early endosome	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in filopodium tip	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone	NAS Non-traceable Author Statement more info	PubMed
located_in insulin-responsive compartment	ISS Inferred from Sequence or Structural Similarity 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
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
part_of myosin complex	IEA Inferred from Electronic Annotation more info
located_in neuron projection	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with peroxisome	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with recycling endosome	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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

A8MZC5, O60653, Q07902, Q16249, Q9UE30, Q9UE31, Q9Y4I1

Related

ENSP00000382177.3, ENST00000399231.8

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_001142495.2 → NP_001135967.2 unconventional myosin-Va isoform 2

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)

AC010674, AC018902, AC025917, KF459554

Consensus CDS

CCDS45262.1

UniProtKB/TrEMBL

A8CDT9

Related

ENSP00000510312.1, ENST00000687574.1

Conserved Domains (5) summary

smart00015
Location:813 → 835

IQ; Calmodulin-binding motif

COG1196
Location:1157 → 1417

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd15478
Location:1454 → 1828

Myo5a_CBD; Cargo binding domain of myosin 5a

TIGR02168
Location:902 → 1281

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain
NM_001382347.1 → NP_001369276.1 unconventional myosin-Va isoform 3

Status: REVIEWED

Source sequence(s)

AC010674, AC018902, AC025917, KF459554

Consensus CDS

CCDS92001.1

UniProtKB/Swiss-Prot

A8MZC5, O60653, Q07902, Q16249, Q9UE30, Q9UE31, Q9Y4I1

Related

ENSP00000382179.4, ENST00000399233.7

Conserved Domains (3) summary

COG5022
Location:7 → 1448

COG5022; Myosin heavy chain [General function prediction only]

cd15478
Location:1506 → 1880

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain
NM_001382348.1 → NP_001369277.1 unconventional myosin-Va isoform 4

Status: REVIEWED

Source sequence(s)

AC010674, AC018902, AC025917, KF459554

UniProtKB/Swiss-Prot

A8MZC5, O60653, Q07902, Q16249, Q9UE30, Q9UE31, Q9Y4I1

Conserved Domains (3) summary

COG5022
Location:35 → 1472

COG5022; Myosin heavy chain [General function prediction only]

cd15478
Location:1530 → 1904

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:107 → 775

MYSc_Myo5; class V myosin, motor domain
NM_001382349.1 → NP_001369278.1 unconventional myosin-Va isoform 5

Status: REVIEWED

Source sequence(s)

AC010674, AC018902, AC025917, KF459554

UniProtKB/Swiss-Prot

A8MZC5, O60653, Q07902, Q16249, Q9UE30, Q9UE31, Q9Y4I1

Conserved Domains (5) summary

smart00015
Location:837 → 859

IQ; Calmodulin-binding motif

cd15478
Location:1505 → 1879

Myo5a_CBD; Cargo binding domain of myosin 5a

TIGR02168
Location:926 → 1468

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd01380
Location:107 → 775

MYSc_Myo5; class V myosin, motor domain

cd21759
Location:853 → 886

CBD_MYO6-like; calmodulin binding domain found in unconventional myosin-VI and similar proteins
NM_001411135.1 → NP_001398064.1 unconventional myosin-Va isoform 6

Status: REVIEWED

Source sequence(s)

AC010674, AC018902, AC025917, KF459554

Consensus CDS

CCDS91999.1

UniProtKB/TrEMBL

A0A8I5KTF1

Related

ENSP00000510378.1, ENST00000692556.1