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Aliases for MYO5A Gene

Aliases for MYO5A Gene

  • Myosin VA 2 3 5
  • Myoxin 2 3 4
  • Dilute Myosin Heavy Chain, Non-Muscle 3 4
  • Myosin VA (Heavy Chain 12, Myoxin) 2 3
  • Myosin Heavy Chain 12 2 4
  • Myosin-12 3 4
  • Myosin V 2 3
  • MYH12 3 4
  • Myosin VA (Heavy Polypeptide 12, Myoxin) 2
  • Myosin, Heavy Polypeptide Kinase 3
  • Heavy Polypeptide Kinase 2
  • Myosin-Va 3
  • Myosin 2
  • MYR12 3
  • MYO5 3
  • GS1 3

External Ids for MYO5A Gene

Previous HGNC Symbols for MYO5A Gene

  • MYH12

Previous GeneCards Identifiers for MYO5A Gene

  • GC15M048163
  • GC15M045652
  • GC15M050183
  • GC15M050321
  • GC15M050392
  • GC15M052599
  • GC15M029430
  • GC15M052419
  • GC15M052690

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) is a Protein Coding gene. Diseases associated with MYO5A include Griscelli Syndrome, Type 1 and Griscelli Syndrome, Type 3. Among its related pathways are Regulation of actin dynamics for phagocytic cup formation and ERK Signaling. GO annotations related to this gene include poly(A) RNA binding and actin binding. An important paralog of this gene is MYO7B.

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

Regulatory Elements for MYO5A Gene

Enhancers for MYO5A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYO5A on UCSC Golden Path with GeneCards custom track

Promoters for MYO5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MYO5A on UCSC Golden Path with GeneCards custom track

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

Genomic Location for MYO5A Gene

Chromosome:
15
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

Genes around MYO5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO5A Gene

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

Antibody Products

  • Cloud-Clone Corp. Antibodies for MYO5A

No data available for DME Specific Peptides for MYO5A Gene

Domains & Families for MYO5A Gene

Gene Families for MYO5A Gene

Suggested Antigen Peptide Sequences for MYO5A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4I1

UniProtKB/Swiss-Prot:

MYO5A_HUMAN :
  • Contains 1 dilute domain.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • Contains 1 dilute domain.
  • Contains 6 IQ domains.
  • Contains 1 myosin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
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:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with MYO5A: view
genes like me logo Genes that share phenotypes with MYO5A: view

Human Phenotype Ontology for MYO5A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYO5A Gene

MGI Knock Outs for MYO5A:

Animal Model Products

miRNA for MYO5A Gene

miRTarBase miRNAs that target MYO5A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
cytosol 5
extracellular 5
golgi apparatus 3
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
nucleus 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MYO5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005737 cytoplasm IDA 9852149
GO:0005769 colocalizes_with early endosome IDA 24006491
GO:0005783 colocalizes_with endoplasmic reticulum IDA 24006491
GO:0005884 colocalizes_with actin filament IDA 24006491
genes like me logo Genes that share ontologies with MYO5A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYO5A Gene

Pathways & Interactions 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:0006810 transport NAS 11980908
GO:0006887 exocytosis IEA --
GO:0006892 post-Golgi vesicle-mediated transport IMP 24006491
GO:0007268 synaptic transmission IEA --
GO:0016192 vesicle-mediated transport ISS --
genes like me logo Genes that share ontologies with MYO5A: view

No data available for SIGNOR curated interactions for MYO5A Gene

Drugs & Compounds for MYO5A Gene

(5) Drugs for MYO5A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for MYO5A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.7) and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for MYO5A Gene

This gene is overexpressed in Frontal cortex (22.4), Fetal Brain (14.5), Brain (11.5), and Retina (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MYO5A: view

Protein tissue co-expression partners for MYO5A Gene

- Elite partner

Primer Products

Orthologs for MYO5A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MYO5A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYO5A 35
  • 93.37 (n)
  • 97.47 (a)
MYO5A 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYO5A 35
  • 93.59 (n)
  • 97.89 (a)
MYO5A 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myo5a 35
  • 90.52 (n)
  • 97.1 (a)
Myo5a 16
Myo5a 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYO5A 35
  • 99.6 (n)
  • 99.84 (a)
MYO5A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myo5a 35
  • 89.92 (n)
  • 96.55 (a)
oppossum
(Monodelphis domestica)
Mammalia MYO5A 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYO5A 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO5A 35
  • 81.13 (n)
  • 91.96 (a)
MYO5A 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO5A 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo5a 35
  • 76.56 (n)
  • 86.15 (a)
African clawed frog
(Xenopus laevis)
Amphibia myo5a-prov 35
zebrafish
(Danio rerio)
Actinopterygii myo5aa 35
  • 71.79 (n)
  • 79.82 (a)
myo5aa 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta d 37
  • 28 (a)
didum 37
  • 39 (a)
didum 35
  • 50.37 (n)
  • 43.02 (a)
didum 36
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006479 35
  • 51.17 (n)
  • 42.87 (a)
worm
(Caenorhabditis elegans)
Secernentea hum-2 37
  • 35 (a)
hum-2 35
  • 47.95 (n)
  • 40.33 (a)
hum-2 36
  • 37 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR354W 35
  • 49.35 (n)
  • 42.53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03905g 35
  • 48.27 (n)
  • 40.32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO2 35
  • 49.09 (n)
  • 41.84 (a)
MYO2 36
  • 37 (a)
ManyToMany
MYO4 36
  • 34 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons XIE 35
  • 48.91 (n)
  • 39.07 (a)
rice
(Oryza sativa)
Liliopsida Os.4855 35
Os06g0488200 35
  • 48.18 (n)
  • 38.99 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13981 35
bread mold
(Neurospora crassa)
Ascomycetes NCU11354 35
  • 49.45 (n)
  • 40.25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10542 36
  • 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
rs1058219 - 52,351,367(-) CCTAC(C/T)GTGTC reference, missense
rs16964944 - 52,384,195(+) TGGCC(A/G)TTTGG reference, missense
rs9282796 - 52,319,201(-) CCACT(C/T)GGTCA reference, missense
rs4987194 -- 52,313,664(-) ATACA(C/T)TTCTT utr-variant-3-prime
rs4993913 -- 52,309,852(+) TGTGT(A/G)TATGT utr-variant-3-prime

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

Variation tolerance for MYO5A Gene

Residual Variation Intolerance Score: 1.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.91; 83.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYO5A Gene

Human Gene Mutation Database (HGMD)
MYO5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO5A Gene

Disorders for MYO5A Gene

MalaCards: The human disease database

(6) MalaCards diseases for MYO5A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
griscelli syndrome, type 1
  • griscelli syndrome type 1
griscelli syndrome, type 3
  • griscelli syndrome type 3
neuroectodermal melanolysosomal disease
  • elejalde disease
griscelli syndrome
  • gs
amyotrophic lateral sclerosis type 2
  • amyotrophic lateral sclerosis 2, juvenile
- elite association - COSMIC cancer census association via MalaCards
Search MYO5A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYO5A_HUMAN
  • 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.
  • 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.

Relevant External Links for MYO5A

Genetic Association Database (GAD)
MYO5A
Human Genome Epidemiology (HuGE) Navigator
MYO5A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYO5A
genes like me logo Genes that share disorders with MYO5A: view

No data available for Genatlas for MYO5A Gene

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 67
  2. Upregulation of myosin Va by Snail is involved in cancer cell migration and metastasis. (PMID: 19521958) Lan L. … Zhang Z. (Int. J. Cancer 2010) 3 23
  3. Myosin-Va restrains the trafficking of Na+/K+-ATPase-containing vesicles in alveolar epithelial cells. (PMID: 19808891) Lecuona E. … Sznajder J.I. (J. Cell. Sci. 2009) 3 23
  4. Intramanchette transport during primate spermiogenesis: expression of dynein, myosin Va, motor recruiter myosin Va, VIIa-Rab27a/b interacting protein, and Rab27b in the manchette during human and monkey spermiogenesis. (PMID: 18478159) Hayasaka S. … Okamura K. (Asian J. Androl. 2008) 3 23
  5. 'Should I stay or should I go?': myosin V function in organelle trafficking. (PMID: 17635110) Desnos C. … Darchen F. (Biol. Cell 2007) 3 23

Products for MYO5A Gene

Sources for MYO5A Gene

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