Format

Send to:

Choose Destination

MYO5A myosin VA [ Homo sapiens (human) ]

Gene ID: 4644, updated on 6-Jan-2019

Summary

Official Symbol
MYO5Aprovided by HGNC
Official Full Name
myosin VAprovided by HGNC
Primary source
HGNC:HGNC:7602
See related
Ensembl:ENSG00000197535 MIM:160777
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

Genomic context

See MYO5A in Genome Data Viewer
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_000015.10Genomic Context describing neighboring genes Neighboring gene myosin VC Neighboring gene uncharacterized LOC105370819 Neighboring gene microRNA 1266 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 1 Neighboring gene cAMP regulated phosphoprotein 19 Neighboring gene family with sequence similarity 214 member A Neighboring gene uncharacterized LOC105370821

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA 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 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 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

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)

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

  1. NG_009887.1 RefSeqGene

    Range
    5001..226768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_86

mRNA and Protein(s)

  1. NM_000259.3NP_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, ENST00000399231.7
    Conserved Domains (7) summary
    smart00015
    Location:813835
    IQ; Calmodulin-binding motif
    cd15478
    Location:14811855
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
    pfam00063
    Location:72751
    Myosin_head; Myosin head (motor domain)
    pfam12718
    Location:9631098
    Tropomyosin_1; Tropomyosin like
    pfam15898
    Location:9421041
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    cl23720
    Location:9991098
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. NM_001142495.1NP_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, ENST00000356338.10
    Conserved Domains (7) summary
    smart00015
    Location:813835
    IQ; Calmodulin-binding motif
    cd15478
    Location:14541828
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
    pfam00063
    Location:72751
    Myosin_head; Myosin head (motor domain)
    pfam12718
    Location:9631098
    Tropomyosin_1; Tropomyosin like
    pfam15898
    Location:9421041
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    cl23720
    Location:9991098
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    52307283..52529050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521606.2XP_011519908.2  unconventional myosin-Va isoform X1

  2. XM_005254397.4XP_005254454.1  unconventional myosin-Va isoform X3

    UniProtKB/Swiss-Prot
    Q9Y4I1
    Related
    ENSP00000451109.1, ENST00000553916.5
    Conserved Domains (7) summary
    smart00015
    Location:813835
    IQ; Calmodulin-binding motif
    cd15478
    Location:15061880
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
    pfam00063
    Location:72751
    Myosin_head; Myosin head (motor domain)
    pfam12718
    Location:9631098
    Tropomyosin_1; Tropomyosin like
    pfam15898
    Location:9421041
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    cl23720
    Location:9991098
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  3. XM_017022227.2XP_016877716.1  unconventional myosin-Va isoform X7

  4. XM_011521610.3XP_011519912.2  unconventional myosin-Va isoform X6

  5. XM_011521607.3XP_011519909.2  unconventional myosin-Va isoform X2

  6. XM_011521612.3XP_011519914.2  unconventional myosin-Va isoform X9

  7. XM_011521611.3XP_011519913.2  unconventional myosin-Va isoform X8

  8. XM_011521609.3XP_011519911.2  unconventional myosin-Va isoform X5

  9. XM_011521608.3XP_011519910.2  unconventional myosin-Va isoform X4

Support Center