ENSG00000095777


Homo sapiens

Features
Gene ID: ENSG00000095777
  
Biological name :MYO3A
  
Synonyms : MYO3A / myosin IIIA / Q8NEV4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: p12.1
Gene start: 25934071
Gene end: 26212536
  
Corresponding Affymetrix probe sets: 1569186_at (Human Genome U133 Plus 2.0 Array)   221400_at (Human Genome U133 Plus 2.0 Array)   244364_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495965
Ensembl peptide - ENSP00000493932
Ensembl peptide - ENSP00000494647
Ensembl peptide - ENSP00000265944
Ensembl peptide - ENSP00000365479
Ensembl peptide - ENSP00000445909
NCBI entrez gene - 53904     See in Manteia.
OMIM - 606808
RefSeq - XM_011519511
RefSeq - NM_017433
RefSeq - XM_011519506
RefSeq - XM_011519508
RefSeq - XM_011519510
RefSeq - XM_011519498
RefSeq - XM_011519499
RefSeq - XM_011519500
RefSeq - XM_011519502
RefSeq - XM_011519503
RefSeq - XM_011519504
RefSeq - XM_011519505
RefSeq Peptide - NP_059129
swissprot - Q8NEV4
swissprot - F5H0U9
Ensembl - ENSG00000095777
  
Related genetic diseases (OMIM): 607101 - Deafness, autosomal recessive 30, 607101
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 myo3aENSDARG00000010186Danio rerio
 MYO3AENSGALG00000007647Gallus gallus
 Myo3aENSMUSG00000025716Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYO3B / Q8WXR4 / myosin IIIBENSG0000007190948
MYO16 / Q9Y6X6 / myosin XVIENSG0000004151524
MYO19 / Q96H55 / myosin XIXENSG0000027825917


Protein motifs (from Interpro)
Interpro ID Name
 IPR000048  IQ motif, EF-hand binding site
 IPR000719  Protein kinase domain
 IPR001609  Myosin head, motor domain
 IPR011009  Protein kinase-like domain superfamily
 IPR017441  Protein kinase, ATP binding site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036083  Class III myosin, motor domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007018 microtubule-based movement IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0007605 sensory perception of sound ISS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0090103 cochlea morphogenesis ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0016459 myosin complex IEA
 cellular_componentGO:0030175 filopodium IDA
 cellular_componentGO:0031941 filamentous actin IDA
 cellular_componentGO:0032420 stereocilium IEA
 cellular_componentGO:0032426 stereocilium tip ISS
 cellular_componentGO:0032433 filopodium tip IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0000146 microfilament motor activity IMP
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003774 motor activity IEA
 molecular_functionGO:0003777 microtubule motor activity IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IDA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008017 microtubule binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0030898 actin-dependent ATPase activity IDA
 molecular_functionGO:0043531 ADP binding IDA
 molecular_functionGO:0060002 plus-end directed microfilament motor activity IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000408 Hearing loss, sensorineural, progressive 
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 HP:0001730 Progressive hearing loss 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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