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MYO5A (myosin VA (heavy chain 12, myoxin))

Identity

Other namesGS1
MYH12
MYO5
MYR12
HGNC (Hugo) MYO5A
LocusID (NCBI) 4644
Location 15q21.2
Location_base_pair Starts at 52599480 and ends at 52821247 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)MYO5A   7602
Cards
Entrez_Gene (NCBI)MYO5A  4644  myosin VA (heavy chain 12, myoxin)
GeneCards (Weizmann)MYO5A
Ensembl (Hinxton)ENSG00000197535 [Gene_View]  chr15:52599480-52821247 [Contig_View]  MYO5A [Vega]
ICGC DataPortalENSG00000197535
AceView (NCBI)MYO5A
Genatlas (Paris)MYO5A
WikiGenes4644
SOURCE (Princeton)NM_000259 NM_001142495
Genomic and cartography
GoldenPath (UCSC)MYO5A  -  15q21.2   chr15:52599480-52821247 -  15q21.2   [Description]    (hg19-Feb_2009)
EnsemblMYO5A - 15q21.2 [CytoView]
Mapping of homologs : NCBIMYO5A [Mapview]
OMIM160777   214450   
Gene and transcription
Genbank (Entrez)AB209487 AB209505 AB290180 AF055459 AF090424
RefSeq transcript (Entrez)NM_000259 NM_001142495
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NG_009887 NT_010194 NW_001838218 NW_004929398
Consensus coding sequences : CCDS (NCBI)MYO5A
Cluster EST : UnigeneHs.596221 [ NCBI ]
CGAP (NCI)Hs.596221
Alternative Splicing : Fast-db (Paris)GSHG0010427
Alternative Splicing GalleryENSG00000197535
Gene ExpressionMYO5A [ NCBI-GEO ]     MYO5A [ SEEK ]   MYO5A [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4I1 (Uniprot)
NextProtQ9Y4I1  [Medical]
With graphics : InterProQ9Y4I1
Splice isoforms : SwissVarQ9Y4I1 (Swissvar)
Domaine pattern : Prosite (Expaxy)DILUTE (PS51126)    IQ (PS50096)    MYOSIN_MOTOR (PS51456)   
Domains : Interpro (EBI)Dil_domain    Dilute    IQ_motif_EF-hand-BS    Myosin_head_motor_dom    P-loop_NTPase   
Related proteins : CluSTrQ9Y4I1
Domain families : Pfam (Sanger)DIL (PF01843)    IQ (PF00612)    Myosin_head (PF00063)   
Domain families : Pfam (NCBI)pfam01843    pfam00612    pfam00063   
Domain families : Smart (EMBL)IQ (SM00015)  MYSc (SM00242)  
DMDM Disease mutations4644
Blocks (Seattle)Q9Y4I1
PDB (SRS)4J5L    4LLI    4LX1    4LX2   
PDB (PDBSum)4J5L    4LLI    4LX1    4LX2   
PDB (IMB)4J5L    4LLI    4LX1    4LX2   
PDB (RSDB)4J5L    4LLI    4LX1    4LX2   
Human Protein AtlasENSG00000197535
Peptide AtlasQ9Y4I1
HPRD01179
IPIIPI00000807   IPI00873959   IPI00220154   IPI01010015   IPI01025156   IPI00936879   IPI00876875   IPI01025189   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4I1
IntAct (EBI)Q9Y4I1
FunCoupENSG00000197535
BioGRIDMYO5A
IntegromeDBMYO5A
STRING (EMBL)MYO5A
Ontologies - Pathways
QuickGOQ9Y4I1
Ontology : AmiGOmicrofilament motor activity  ruffle  photoreceptor outer segment  actin binding  calcium ion binding  calmodulin binding  ATP binding  cytoplasm  Golgi apparatus  intermediate filament  transport  exocytosis  synaptic transmission  visual perception  protein transport  membrane  vesicle-mediated transport  myosin complex  Rab GTPase binding  actin filament-based movement  insulin secretion  melanocyte differentiation  growth cone  regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  locomotion involved in locomotory behavior  secretory granule localization  melanosome transport  insulin-responsive compartment  cellular response to insulin stimulus  microtubule plus-end  melanin biosynthetic process  melanosome  odontogenesis  myelination  anagen  actomyosin  long-chain fatty acid biosynthetic process  neuron projection  neuronal cell body  cellular protein metabolic process  poly(A) RNA binding  synapse organization  endoplasmic reticulum localization  membrane organization  protein localization to plasma membrane  
Ontology : EGO-EBImicrofilament motor activity  ruffle  photoreceptor outer segment  actin binding  calcium ion binding  calmodulin binding  ATP binding  cytoplasm  Golgi apparatus  intermediate filament  transport  exocytosis  synaptic transmission  visual perception  protein transport  membrane  vesicle-mediated transport  myosin complex  Rab GTPase binding  actin filament-based movement  insulin secretion  melanocyte differentiation  growth cone  regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  locomotion involved in locomotory behavior  secretory granule localization  melanosome transport  insulin-responsive compartment  cellular response to insulin stimulus  microtubule plus-end  melanin biosynthetic process  melanosome  odontogenesis  myelination  anagen  actomyosin  long-chain fatty acid biosynthetic process  neuron projection  neuronal cell body  cellular protein metabolic process  poly(A) RNA binding  synapse organization  endoplasmic reticulum localization  membrane organization  protein localization to plasma membrane  
Protein Interaction DatabaseMYO5A
Wikipedia pathwaysMYO5A
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MYO5A
SNP (GeneSNP Utah)MYO5A
SNP : HGBaseMYO5A
Genetic variants : HAPMAPMYO5A
1000_GenomesMYO5A 
ICGC programENSG00000197535 
CONAN: Copy Number AnalysisMYO5A 
Somatic Mutations in Cancer : COSMICMYO5A 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DECIPHER (Syndromes)15:52599480-52821247
Mutations and Diseases : HGMDMYO5A
OMIM160777    214450   
MedgenMYO5A
GENETestsMYO5A
Disease Genetic AssociationMYO5A
Huge Navigator MYO5A [HugePedia]  MYO5A [HugeCancerGEM]
Genomic VariantsMYO5A  MYO5A [DGVbeta]
Exome VariantMYO5A
dbVarMYO5A
ClinVarMYO5A
snp3D : Map Gene to Disease4644
General knowledge
Homologs : HomoloGeneMYO5A
Homology/Alignments : Family Browser (UCSC)MYO5A
Phylogenetic Trees/Animal Genes : TreeFamMYO5A
Chemical/Protein Interactions : CTD4644
Chemical/Pharm GKB GenePA31407
Clinical trialMYO5A
Cancer Resource (Charite)ENSG00000197535
Other databases
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
CoreMineMYO5A
GoPubMedMYO5A
iHOPMYO5A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:43:53 CET 2014

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