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MYO5A myosin VA [ Homo sapiens (human) ]

Gene ID: 4644, updated on 4-Jul-2021

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
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Genomic context

See MYO5A in Genome Data Viewer
Location:
15q21.2
Exon count:
43
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (52307283..52529050, complement)
105.20201022 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 negCOR silencer S8 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
GeneReviews: Not available
Griscelli syndrome type 1
MedGen: C1859194 OMIM: 214450 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA binding HDA PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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 
located_in extracellular exosome HDA 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 PubMed 
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

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

  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_001142495.2NP_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
    Related
    ENSP00000348693.6, ENST00000356338.10
    Conserved Domains (5) summary
    smart00015
    Location:813835
    IQ; Calmodulin-binding motif
    COG1196
    Location:11571417
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd15478
    Location:14541828
    Myo5a_CBD; Cargo binding domain of myosin 5a
    TIGR02168
    Location:9021281
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
  3. NM_001382347.1NP_001369276.1  unconventional myosin-Va isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010674, AC018902, AC025917, KF459554
    Related
    ENSP00000382179.4, ENST00000399233.7
    Conserved Domains (3) summary
    COG5022
    Location:71448
    COG5022; Myosin heavy chain [General function prediction only]
    cd15478
    Location:15061880
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
  4. NM_001382348.1NP_001369277.1  unconventional myosin-Va isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC010674, AC018902, AC025917, KF459554
    Conserved Domains (3) summary
    COG5022
    Location:351472
    COG5022; Myosin heavy chain [General function prediction only]
    cd15478
    Location:15301904
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:107775
    MYSc_Myo5; class V myosin, motor domain
  5. NM_001382349.1NP_001369278.1  unconventional myosin-Va isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC010674, AC018902, AC025917, KF459554
    Conserved Domains (5) summary
    smart00015
    Location:837859
    IQ; Calmodulin-binding motif
    cd15478
    Location:15051879
    Myo5a_CBD; Cargo binding domain of myosin 5a
    TIGR02168
    Location:9261468
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd01380
    Location:107775
    MYSc_Myo5; class V myosin, motor domain
    cd21759
    Location:853886
    CBD_MYO6-like; calmodulin binding domain found in unconventional myosin-VI and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017022227.2XP_016877716.1  unconventional myosin-Va isoform X7

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

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

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

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

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

    Related
    ENSP00000451109.1, ENST00000553916.5
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