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Aliases for MYO3A Gene

Aliases for MYO3A Gene

  • Myosin IIIA 2 3
  • EC 2.7.11.1 4 63
  • DFNB30 3 6
  • Deafness, Autosomal Recessive 30 2
  • Myosin-IIIa 3
  • EC 2.7.11 63

External Ids for MYO3A Gene

Previous HGNC Symbols for MYO3A Gene

  • DFNB30

Previous GeneCards Identifiers for MYO3A Gene

  • GC10P025958
  • GC10P026373
  • GC10P026227
  • GC10P026263

Summaries for MYO3A Gene

Entrez Gene Summary for MYO3A Gene

  • The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYO3A Gene

MYO3A (Myosin IIIA) is a Protein Coding gene. Diseases associated with MYO3A include deafness, autosomal recessive 30 and dfnb30 nonsyndromic hearing loss and deafness. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include protein serine/threonine kinase activity and calmodulin binding. An important paralog of this gene is MYO7A.

UniProtKB/Swiss-Prot for MYO3A Gene

  • Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing.

Gene Wiki entry for MYO3A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO3A Gene

Genomics for MYO3A Gene

Regulatory Elements for MYO3A Gene

Genomic Location for MYO3A Gene

Start:
25,934,073 bp from pter
End:
26,212,536 bp from pter
Size:
278,464 bases
Orientation:
Plus strand

Genomic View for MYO3A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYO3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO3A Gene

Proteins for MYO3A Gene

  • Protein details for MYO3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEV4-MYO3A_HUMAN
    Recommended name:
    Myosin-IIIa
    Protein Accession:
    Q8NEV4
    Secondary Accessions:
    • Q4G0X2
    • Q5VZ28
    • Q8WX17
    • Q9NYS8

    Protein attributes for MYO3A Gene

    Size:
    1616 amino acids
    Molecular mass:
    186208 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MYO3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO3A Gene

Proteomics data for MYO3A Gene at MOPED

Selected DME Specific Peptides for MYO3A Gene

Post-translational modifications for MYO3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYO3A Gene

Domains for MYO3A Gene

Gene Families for MYO3A Gene

HGNC:
  • MYOIII :Myosins / Myosin superfamily : Class III
IUPHAR :

Suggested Antigen Peptide Sequences for MYO3A Gene

Graphical View of Domain Structure for InterPro Entry

Q8NEV4

UniProtKB/Swiss-Prot:

MYO3A_HUMAN :
  • Q8NEV4
Domain:
  • Contains 3 IQ domains.
  • Contains 1 myosin motor domain.
  • Contains 1 protein kinase domain.
Family:
  • In the C-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
  • In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family.
genes like me logo Genes that share domains with MYO3A: view

Function for MYO3A Gene

Molecular function for MYO3A Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot Function: Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing.

Enzyme Numbers (IUBMB) for MYO3A Gene

Gene Ontology (GO) - Molecular Function for MYO3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IMP 17021180
GO:0003774 motor activity --
GO:0004672 protein kinase activity IDA 12672820
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
genes like me logo Genes that share ontologies with MYO3A: view
genes like me logo Genes that share phenotypes with MYO3A: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYO3A

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MYO3A Gene

Localization for MYO3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO3A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYO3A Gene COMPARTMENTS Subcellular localization image for MYO3A gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MYO3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005737 cytoplasm IEA --
GO:0016459 myosin complex IEA --
GO:0030175 filopodium IDA 17021180
GO:0031941 filamentous actin IDA 12672820
genes like me logo Genes that share ontologies with MYO3A: view

Pathways for MYO3A Gene

genes like me logo Genes that share pathways with MYO3A: view

Pathways by source for MYO3A Gene

Gene Ontology (GO) - Biological Process for MYO3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006468 protein phosphorylation --
GO:0007601 visual perception IEA --
GO:0007605 sensory perception of sound IMP 12032315
GO:0018105 peptidyl-serine phosphorylation IEA --
genes like me logo Genes that share ontologies with MYO3A: view

Compounds for MYO3A Gene

(2) HMDB Compounds for MYO3A Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(1) Novoseek inferred chemical compound relationships for MYO3A Gene

Compound -log(P) Hits PubMed IDs
atp 38.5 5
genes like me logo Genes that share compounds with MYO3A: view

Transcripts for MYO3A Gene

Unigene Clusters for MYO3A Gene

Myosin IIIA:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYO3A

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MYO3A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYO3A Gene

No ASD Table

Relevant External Links for MYO3A Gene

GeneLoc Exon Structure for
MYO3A
ECgene alternative splicing isoforms for
MYO3A

Expression for MYO3A Gene

mRNA expression in normal human tissues for MYO3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYO3A Gene

This gene is overexpressed in Testis (11.5), Artery - Tibial (6.0), and Brain - Nucleus accumbens (basal ganglia) (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MYO3A Gene

SOURCE GeneReport for Unigene cluster for MYO3A Gene Hs.662630

mRNA Expression by UniProt/SwissProt for MYO3A Gene

Q8NEV4-MYO3A_HUMAN
Tissue specificity: Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas
genes like me logo Genes that share expressions with MYO3A: view

In Situ Assay Products

Orthologs for MYO3A Gene

This gene was present in the common ancestor of animals.

Orthologs for MYO3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYO3A 35
  • 99.28 (n)
  • 98.76 (a)
MYO3A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYO3A 35
  • 88 (n)
  • 86.53 (a)
MYO3A 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYO3A 35
  • 89.17 (n)
  • 87.18 (a)
MYO3A 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myo3a 35
  • 84.37 (n)
  • 81.9 (a)
Myo3a 16
Myo3a 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 90 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MYO3A 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myo3a 35
  • 84.36 (n)
  • 83.03 (a)
chicken
(Gallus gallus)
Aves MYO3A 35
  • 71.92 (n)
  • 70.65 (a)
MYO3A 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO3A 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo3a 35
  • 65.55 (n)
  • 65 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.12585 35
myo3a 35
  • 61.83 (n)
  • 62.34 (a)
myo3a 36
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009730 35
  • 46.09 (n)
  • 37.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta ninaC 35
  • 46.13 (n)
  • 37.73 (a)
ninaC 37
  • 35 (a)
Species with no ortholog for MYO3A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYO3A Gene

ENSEMBL:
Gene Tree for MYO3A (if available)
TreeFam:
Gene Tree for MYO3A (if available)

Paralogs for MYO3A Gene

Paralogs for MYO3A Gene

genes like me logo Genes that share paralogs with MYO3A: view

Variants for MYO3A Gene

Sequence variations from dbSNP and Humsavar for MYO3A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs872752 -- 25,937,395(-) AGCCA(C/T)ATAAT intron-variant
rs872753 -- 25,937,343(-) TCACA(A/G)ACTCA intron-variant
rs872754 -- 25,937,281(-) tgaaa(G/T)aaagg intron-variant
rs946688 -- 25,937,989(-) AAACA(C/G)AGGAA intron-variant
rs949896 -- 26,037,508(+) CTATT(C/T)TAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYO3A Gene

Variant ID Type Subtype PubMed ID
nsv894974 CNV Gain 21882294
esv268255 CNV Insertion 20981092
esv273872 CNV Insertion 20981092
esv2670069 CNV Deletion 23128226
nsv894975 CNV Gain 21882294
esv29775 CNV Loss 19812545
esv2568953 CNV Deletion 19546169
dgv5e194 CNV Deletion 18987734
esv3713 CNV Deletion 18987735
esv2734306 CNV Deletion 23290073
esv2668519 CNV Deletion 23128226
esv2734317 CNV Deletion 23290073
esv2734328 CNV Deletion 23290073
esv2658499 CNV Deletion 23128226
nsv819180 CNV Loss 19587683

Relevant External Links for MYO3A Gene

HapMap Linkage Disequilibrium report
MYO3A
Human Gene Mutation Database (HGMD)
MYO3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO3A Gene

Disorders for MYO3A Gene

(1) OMIM Diseases for MYO3A Gene (606808)

UniProtKB/Swiss-Prot

MYO3A_HUMAN
  • Deafness, autosomal recessive, 30 (DFNB30) [MIM:607101]: A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies. {ECO:0000269 PubMed:12032315}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MYO3A Gene

Relevant External Links for MYO3A

Genetic Association Database (GAD)
MYO3A
Human Genome Epidemiology (HuGE) Navigator
MYO3A
genes like me logo Genes that share disorders with MYO3A: view

Publications for MYO3A Gene

  1. Cloning and chromosomal localization of a human class III myosin. (PMID: 10936054) Dose A.C. … Burnside B. (Genomics 2000) 2 3 4 23
  2. Human myosin III is a motor having an extremely high affinity for actin. (PMID: 17012748) Kambara T. … Ikebe M. (J. Biol. Chem. 2006) 3 23
  3. A new compartment at stereocilia tips defined by spatial and temporal patterns of myosin IIIa expression. (PMID: 17021180) Schneider M.E. … Kachar B. (J. Neurosci. 2006) 3 23
  4. Kinetic mechanism of human myosin IIIA. (PMID: 17074769) DosAc A.C. … Yengo C.M. (J. Biol. Chem. 2007) 3 23
  5. The kinase domain alters the kinetic properties of the myosin IIIA motor. (PMID: 18229949) DosAc A.C. … Yengo C.M. (Biochemistry 2008) 3 23

Products for MYO3A Gene

Sources for MYO3A Gene

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