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Aliases for MYO5A Gene

Aliases for MYO5A Gene

  • Myosin VA (Heavy Chain 12, Myoxin) 2 3
  • Myoxin 2 3 4
  • MYH12 3 4 6
  • Dilute Myosin Heavy Chain, Non-Muscle 3 4
  • Myosin Heavy Chain 12 2 4
  • Myosin-12 3 4
  • Myosin V 2 3
  • GS1 3 6
  • Myosin VA (Heavy Polypeptide 12, Myoxin) 2
  • Myosin, Heavy Polypeptide Kinase 3
  • Heavy Polypeptide Kinase 2
  • Unconventional Myosin-Va 3
  • Myosin-Va 3
  • Myosin 2
  • MYR12 3
  • MYO5 3

External Ids for MYO5A Gene

Previous Symbols for MYO5A Gene

  • MYH12

Summaries for MYO5A Gene

Entrez Gene Summary for MYO5A Gene

  • 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]

GeneCards Summary for MYO5A Gene

MYO5A (Myosin VA (Heavy Chain 12, Myoxin)) is a Protein Coding gene. Diseases associated with MYO5A include neuroectodermal melanolysosomal disease and griscelli syndrome, type 1. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is MYO7A.

UniProtKB/Swiss-Prot for MYO5A Gene

  • Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation.

Gene Wiki entry for MYO5A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO5A Gene

Genomics for MYO5A Gene

Genomic Location for MYO5A Gene

Start:
52,307,283 bp from pter
End:
52,529,050 bp from pter
Size:
221,768 bases
Orientation:
Minus strand

Genomic View for MYO5A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYO5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO5A Gene

Regulatory Elements for MYO5A Gene

Transcription factor binding sites by QIAGEN in the MYO5A gene promoter:

Proteins for MYO5A Gene

  • Protein details for MYO5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4I1-MYO5A_HUMAN
    Recommended name:
    Unconventional myosin-Va
    Protein Accession:
    Q9Y4I1
    Secondary Accessions:
    • A8MZC5
    • O60653
    • Q07902
    • Q16249
    • Q9UE30
    • Q9UE31

    Protein attributes for MYO5A Gene

    Size:
    1855 amino acids
    Molecular mass:
    215405 Da
    Quaternary structure:
    • May be a homodimer, which associates with multiple calmodulin or myosin light chains. Interacts with SYTL4, MLPH and MYRIP. Interacts with RIPL2, the interaction is required for its role in dendrite formation (By similarity). Interacts with RAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles.

    Three dimensional structures from OCA and Proteopedia for MYO5A Gene

    Alternative splice isoforms for MYO5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO5A Gene

Proteomics data for MYO5A Gene at MOPED

Post-translational modifications for MYO5A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MYO5A Gene

Domains for MYO5A Gene

Gene Families for MYO5A Gene

HGNC:
  • MYOV :Myosins / Myosin superfamily : Class V

UniProtKB/Swiss-Prot:

MYO5A_HUMAN
Domain:
  • Contains 1 dilute domain.:
    • Q9Y4I1
  • Contains 6 IQ domains.:
    • Q9Y4I1
  • Contains 1 myosin motor domain.:
    • Q9Y4I1
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.:
    • Q9Y4I1
genes like me logo Genes that share domains with MYO5A: view

Function for MYO5A Gene

Molecular function for MYO5A Gene

GENATLAS Biochemistry: myosin 5A,unconventional,apparently non filamentous,processive motor protein,expressed in non muscle tissues,moving vesicles on actin tracks through a characteristic cycle of interaction with actin,the rate limiting step of the cycle being the ADP release,also involved in melanogenesis
UniProtKB/Swiss-Prot Function: Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation.

Gene Ontology (GO) - Molecular Function for MYO5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity NAS 10448864
GO:0003774 motor activity --
GO:0003779 actin binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with MYO5A: view
genes like me logo Genes that share phenotypes with MYO5A: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for MYO5A Gene

Localization for MYO5A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYO5A Gene COMPARTMENTS Subcellular localization image for MYO5A gene
Compartment Confidence
cytoskeleton 3
cytosol 3
golgi apparatus 2
mitochondrion 2
vacuole 2
endoplasmic reticulum 1
endosome 1
lysosome 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MYO5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 9852149
GO:0001750 photoreceptor outer segment IEA --
GO:0005737 cytoplasm IDA 9852149
GO:0005764 colocalizes_with lysosome IDA 24006491
GO:0005769 colocalizes_with early endosome IDA 24006491
genes like me logo Genes that share ontologies with MYO5A: view

Pathways for MYO5A Gene

genes like me logo Genes that share pathways with MYO5A: view

Gene Ontology (GO) - Biological Process for MYO5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process --
GO:0006582 melanin metabolic process --
GO:0006810 transport NAS 11980908
GO:0006887 exocytosis IEA --
GO:0006892 post-Golgi vesicle-mediated transport IMP 24006491
genes like me logo Genes that share ontologies with MYO5A: view

Compounds for MYO5A Gene

(10) Novoseek inferred chemical compound relationships for MYO5A Gene

Compound -log(P) Hits PubMed IDs
actomyosin 74.1 2
adp 68.4 26
mant-adp 64.5 1
atp 58.5 24
2,3-butanedione monoxime 48.1 1
genes like me logo Genes that share compounds with MYO5A: view

Transcripts for MYO5A Gene

Unigene Clusters for MYO5A Gene

Myosin VA (heavy chain 12, myoxin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYO5A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39
SP1: - -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for MYO5A Gene

GeneLoc Exon Structure for
MYO5A
ECgene alternative splicing isoforms for
MYO5A

Expression for MYO5A Gene

mRNA expression in normal human tissues for MYO5A Gene

mRNA differential expression in normal tissues according to GTEx for MYO5A Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (4.7) and Brain - Anterior cingulate cortex (BA24) (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYO5A Gene

SOURCE GeneReport for Unigene cluster for MYO5A Gene Hs.21213

mRNA Expression by UniProt/SwissProt for MYO5A Gene

Q9Y4I1-MYO5A_HUMAN
Tissue specificity: Detected in melanocytes
genes like me logo Genes that share expressions with MYO5A: view

Orthologs for MYO5A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MYO5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYO5A 36
  • 99.6 (n)
  • 99.84 (a)
MYO5A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYO5A 36
  • 93.37 (n)
  • 97.47 (a)
MYO5A 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYO5A 36
  • 93.59 (n)
  • 97.89 (a)
MYO5A 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myo5a 36
  • 90.52 (n)
  • 97.1 (a)
Myo5a 16
Myo5a 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYO5A 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYO5A 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myo5a 36
  • 89.92 (n)
  • 96.55 (a)
chicken
(Gallus gallus)
Aves MYO5A 36
  • 81.13 (n)
  • 91.96 (a)
MYO5A 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO5A 37
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia myo5a-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia myo5a 36
  • 76.56 (n)
  • 86.15 (a)
zebrafish
(Danio rerio)
Actinopterygii myo5aa 36
  • 71.79 (n)
  • 79.82 (a)
myo5aa 37
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006479 36
  • 51.17 (n)
  • 42.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta didum 36
  • 50.37 (n)
  • 43.02 (a)
didum 37
  • 41 (a)
OneToMany
d 38
  • 28 (a)
didum 38
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea hum-2 36
  • 47.95 (n)
  • 40.33 (a)
hum-2 37
  • 37 (a)
OneToMany
hum-2 38
  • 35 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR354W 36
  • 49.35 (n)
  • 42.53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO2 36
  • 49.09 (n)
  • 41.84 (a)
MYO2 37
  • 37 (a)
ManyToMany
MYO4 37
  • 34 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03905g 36
  • 48.27 (n)
  • 40.32 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons XIE 36
  • 48.91 (n)
  • 39.07 (a)
rice
(Oryza sativa)
Liliopsida Os.4855 36
Os06g0488200 36
  • 48.18 (n)
  • 38.99 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11354 36
  • 49.45 (n)
  • 40.25 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13981 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10542 37
  • 50 (a)
OneToMany
Species with no ortholog for MYO5A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYO5A Gene

ENSEMBL:
Gene Tree for MYO5A (if available)
TreeFam:
Gene Tree for MYO5A (if available)

Paralogs for MYO5A Gene

Paralogs for MYO5A Gene

genes like me logo Genes that share paralogs with MYO5A: view

Variants for MYO5A Gene

Sequence variations from dbSNP and Humsavar for MYO5A Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs722436 -- 52,414,557(-) TGTCT(G/T)TGAAG intron-variant
rs744501 -- 52,340,451(+) CCTAA(A/C)GGGTG intron-variant
rs752864 -- 52,339,794(-) CCATC(C/T)CAGGC intron-variant
rs752865 -- 52,339,620(-) TAACA(A/G)GTGAG intron-variant
rs752866 -- 52,339,596(-) TCCTT(C/G)TCAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYO5A Gene

Variant ID Type Subtype PubMed ID
nsv819139 CNV Loss 19587683
nsv471245 CNV Gain 18288195
esv273448 CNV Insertion 20981092
esv272006 CNV Insertion 20981092
esv2749695 CNV Deletion 23290073
esv2749698 CNV Deletion 23290073
nsv507781 CNV Insertion 20534489
esv259982 OTHER Complex 20981092
esv4732 CNV Complex 18987735

Relevant External Links for MYO5A Gene

HapMap Linkage Disequilibrium report
MYO5A
Human Gene Mutation Database (HGMD)
MYO5A
Locus Specific Mutation Databases (LSDB)
MYO5A

Disorders for MYO5A Gene

(1) OMIM Diseases for MYO5A Gene (160777)

UniProtKB/Swiss-Prot

MYO5A_HUMAN
  • Griscelli syndrome 1 (GS1) [MIM:214450]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities. {ECO:0000269 PubMed:10704277}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Griscelli syndrome 3 (GS3) [MIM:609227]: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. {ECO:0000269 PubMed:12897212}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Elejalde syndrome (ELEJAS) [MIM:256710]: Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I. {ECO:0000269 PubMed:12058346}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(11) Novoseek inferred disease relationships for MYO5A Gene

Disease -log(P) Hits PubMed IDs
griscelli syndrome, type 1 88.3 3
piebaldism 78.7 1
melanoma b16 12.4 2
metastatic cancer 7.45 2
melanoma 5.87 5

Relevant External Links for MYO5A

Genetic Association Database (GAD)
MYO5A
Human Genome Epidemiology (HuGE) Navigator
MYO5A
genes like me logo Genes that share disorders with MYO5A: view

Publications for MYO5A Gene

  1. Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene. (PMID: 8188282) Engle L.J. … Kennett R.H. (Genomics 1994) 2 3 4 23
  2. Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. (PMID: 10733681) Lambert J. … Messiaen L. (J. Invest. Dermatol. 2000) 3 4 23 49
  3. Myosin-V is a processive actin-based motor. (PMID: 10448864) Mehta A.D. … Cheney R.E. (Nature 1999) 3 4 23
  4. Inhibition of dendrite formation in mouse melanocytes transiently transfected with antisense DNA to myosin Va. (PMID: 10529054) Edgar A.J. … Bennett J.P. (J. Anat. 1999) 3 23
  5. Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. (PMID: 11856727) Fukuda M. … Mikoshiba K. (J. Biol. Chem. 2002) 3 23

Products for MYO5A Gene

Sources for MYO5A Gene

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