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MYH1 (myosin heavy chain 1)

Identity

Alias_namesmyosin, heavy polypeptide 1, skeletal muscle, adult
Alias_symbol (synonym)MYHSA1
MYHa
MyHC-2X/D
MGC133384
Other aliasHEL71
MyHC-2x
HGNC (Hugo) MYH1
LocusID (NCBI) 4619
Atlas_Id 70606
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 10492310 and ends at 10518542 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GAS7 (17p13.1) / MYH1 (17p13.1)

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MYH1   7567
Cards
Entrez_Gene (NCBI)MYH1  4619  myosin heavy chain 1
AliasesHEL71; MYHSA1; MYHa; MyHC-2X/D; 
MyHC-2x
GeneCards (Weizmann)MYH1
Ensembl hg19 (Hinxton)ENSG00000109061 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109061 [Gene_View]  chr17:10492310-10518542 [Contig_View]  MYH1 [Vega]
ICGC DataPortalENSG00000109061
TCGA cBioPortalMYH1
AceView (NCBI)MYH1
Genatlas (Paris)MYH1
WikiGenes4619
SOURCE (Princeton)MYH1
Genetics Home Reference (NIH)MYH1
Genomic and cartography
GoldenPath hg38 (UCSC)MYH1  -     chr17:10492310-10518542 -  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYH1  -     17p13.1   [Description]    (hg19-Feb_2009)
EnsemblMYH1 - 17p13.1 [CytoView hg19]  MYH1 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIMYH1 [Mapview hg19]  MYH1 [Mapview hg38]
OMIM160730   
Gene and transcription
Genbank (Entrez)AF111785 AJ573764 AK310004 BC022376 BC114545
RefSeq transcript (Entrez)NM_005963
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYH1
Cluster EST : UnigeneHs.689619 [ NCBI ]
CGAP (NCI)Hs.689619
Alternative Splicing GalleryENSG00000109061
Gene ExpressionMYH1 [ NCBI-GEO ]   MYH1 [ EBI - ARRAY_EXPRESS ]   MYH1 [ SEEK ]   MYH1 [ MEM ]
Gene Expression Viewer (FireBrowse)MYH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4619
GTEX Portal (Tissue expression)MYH1
Human Protein AtlasENSG00000109061-MYH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12882   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12882  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12882
Splice isoforms : SwissVarP12882
PhosPhoSitePlusP12882
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    MYOSIN_MOTOR (PS51456)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    Myosin-like_IQ_dom    Myosin_head_motor_dom    Myosin_N    Myosin_tail    P-loop_NTPase   
Domain families : Pfam (Sanger)Myosin_head (PF00063)    Myosin_N (PF02736)    Myosin_tail_1 (PF01576)   
Domain families : Pfam (NCBI)pfam00063    pfam02736    pfam01576   
Domain families : Smart (EMBL)IQ (SM00015)  MYSc (SM00242)  
Conserved Domain (NCBI)MYH1
DMDM Disease mutations4619
Blocks (Seattle)MYH1
SuperfamilyP12882
Human Protein Atlas [tissue]ENSG00000109061-MYH1 [tissue]
Peptide AtlasP12882
HPRD08872
IPIIPI00025879   IPI00448877   
Protein Interaction databases
DIP (DOE-UCLA)P12882
IntAct (EBI)P12882
FunCoupENSG00000109061
BioGRIDMYH1
STRING (EMBL)MYH1
ZODIACMYH1
Ontologies - Pathways
QuickGOP12882
Ontology : AmiGOmotor activity  actin binding  protein binding  calmodulin binding  ATP binding  muscle myosin complex  myofibril  myosin filament  cytoplasmic ribonucleoprotein granule  
Ontology : EGO-EBImotor activity  actin binding  protein binding  calmodulin binding  ATP binding  muscle myosin complex  myofibril  myosin filament  cytoplasmic ribonucleoprotein granule  
Pathways : KEGGTight junction   
NDEx NetworkMYH1
Atlas of Cancer Signalling NetworkMYH1
Wikipedia pathwaysMYH1
Orthology - Evolution
OrthoDB4619
GeneTree (enSembl)ENSG00000109061
Phylogenetic Trees/Animal Genes : TreeFamMYH1
HOVERGENP12882
HOGENOMP12882
Homologs : HomoloGeneMYH1
Homology/Alignments : Family Browser (UCSC)MYH1
Gene fusions - Rearrangements
Tumor Fusion PortalMYH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH1
dbVarMYH1
ClinVarMYH1
1000_GenomesMYH1 
Exome Variant ServerMYH1
ExAC (Exome Aggregation Consortium)ENSG00000109061
GNOMAD BrowserENSG00000109061
Genetic variants : HAPMAP4619
Genomic Variants (DGV)MYH1 [DGVbeta]
DECIPHERMYH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYH1 
Mutations
ICGC Data PortalMYH1 
TCGA Data PortalMYH1 
Broad Tumor PortalMYH1
OASIS PortalMYH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYH1
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
BioMutasearch MYH1
DgiDB (Drug Gene Interaction Database)MYH1
DoCM (Curated mutations)MYH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYH1 (select a term)
intoGenMYH1
Cancer3DMYH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160730   
Orphanet
DisGeNETMYH1
MedgenMYH1
Genetic Testing Registry MYH1
NextProtP12882 [Medical]
TSGene4619
GENETestsMYH1
Target ValidationMYH1
Huge Navigator MYH1 [HugePedia]
snp3D : Map Gene to Disease4619
BioCentury BCIQMYH1
ClinGenMYH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4619
Chemical/Pharm GKB GenePA31365
Clinical trialMYH1
Miscellaneous
canSAR (ICR)MYH1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYH1
EVEXMYH1
GoPubMedMYH1
iHOPMYH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:36:21 CET 2017

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