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ACTC1 (actin, alpha, cardiac muscle 1)

Identity

Alias_namesACTC
actin
Alias_symbol (synonym)CMD1R
HGNC (Hugo) ACTC1
LocusID (NCBI) 70
Atlas_Id 51388
Location 15q14  [Link to chromosome band 15q14]
Location_base_pair Starts at 35080297 and ends at 35087927 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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ACTC1   143
LRG (Locus Reference Genomic)LRG_388
Cards
Entrez_Gene (NCBI)ACTC1  70  actin, alpha, cardiac muscle 1
AliasesACTC; ASD5; CMD1R; CMH11; 
LVNC4
GeneCards (Weizmann)ACTC1
Ensembl hg19 (Hinxton)ENSG00000159251 [Gene_View]  chr15:35080297-35087927 [Contig_View]  ACTC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000159251 [Gene_View]  chr15:35080297-35087927 [Contig_View]  ACTC1 [Vega]
ICGC DataPortalENSG00000159251
TCGA cBioPortalACTC1
AceView (NCBI)ACTC1
Genatlas (Paris)ACTC1
WikiGenes70
SOURCE (Princeton)ACTC1
Genetics Home Reference (NIH)ACTC1
Genomic and cartography
GoldenPath hg19 (UCSC)ACTC1  -     chr15:35080297-35087927 -  15q14   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACTC1  -     15q14   [Description]    (hg38-Dec_2013)
EnsemblACTC1 - 15q14 [CytoView hg19]  ACTC1 - 15q14 [CytoView hg38]
Mapping of homologs : NCBIACTC1 [Mapview hg19]  ACTC1 [Mapview hg38]
OMIM102540   612098   612794   613424   
Gene and transcription
Genbank (Entrez)AI222203 AK056592 AK129892 AK129902 AK290616
RefSeq transcript (Entrez)NM_005159
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_007553 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)ACTC1
Cluster EST : UnigeneHs.118127 [ NCBI ]
CGAP (NCI)Hs.118127
Alternative Splicing GalleryENSG00000159251
Gene ExpressionACTC1 [ NCBI-GEO ]   ACTC1 [ EBI - ARRAY_EXPRESS ]   ACTC1 [ SEEK ]   ACTC1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACTC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)70
GTEX Portal (Tissue expression)ACTC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP68032   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP68032  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP68032
Splice isoforms : SwissVarP68032
PhosPhoSitePlusP68032
Domaine pattern : Prosite (Expaxy)ACTINS_1 (PS00406)    ACTINS_2 (PS00432)    ACTINS_ACT_LIKE (PS01132)   
Domains : Interpro (EBI)Actin    Actin/actin-like_CS    Actin_CS   
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
Conserved Domain (NCBI)ACTC1
DMDM Disease mutations70
Blocks (Seattle)ACTC1
SuperfamilyP68032
Human Protein AtlasENSG00000159251
Peptide AtlasP68032
HPRD00015
IPIIPI00023006   IPI00930343   IPI01011107   
Protein Interaction databases
DIP (DOE-UCLA)P68032
IntAct (EBI)P68032
FunCoupENSG00000159251
BioGRIDACTC1
STRING (EMBL)ACTC1
ZODIACACTC1
Ontologies - Pathways
QuickGOP68032
Ontology : AmiGOATP binding  extracellular space  cytoplasm  cytosol  actin filament  focal adhesion  apoptotic process  positive regulation of gene expression  membrane  ATPase activity  myosin binding  myosin binding  sarcomere  lamellipodium  actin filament-based movement  muscle filament sliding  filopodium  skeletal muscle thin filament assembly  actomyosin structure organization  I band  actin-myosin filament sliding  response to drug  actomyosin, actin portion  negative regulation of apoptotic process  cell body  response to ethanol  cardiac myofibril assembly  cardiac muscle tissue morphogenesis  heart contraction  cardiac muscle contraction  extracellular exosome  blood microparticle  mesenchyme migration  
Ontology : EGO-EBIATP binding  extracellular space  cytoplasm  cytosol  actin filament  focal adhesion  apoptotic process  positive regulation of gene expression  membrane  ATPase activity  myosin binding  myosin binding  sarcomere  lamellipodium  actin filament-based movement  muscle filament sliding  filopodium  skeletal muscle thin filament assembly  actomyosin structure organization  I band  actin-myosin filament sliding  response to drug  actomyosin, actin portion  negative regulation of apoptotic process  cell body  response to ethanol  cardiac myofibril assembly  cardiac muscle tissue morphogenesis  heart contraction  cardiac muscle contraction  extracellular exosome  blood microparticle  mesenchyme migration  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
NDEx NetworkACTC1
Atlas of Cancer Signalling NetworkACTC1
Wikipedia pathwaysACTC1
Orthology - Evolution
OrthoDB70
GeneTree (enSembl)ENSG00000159251
Phylogenetic Trees/Animal Genes : TreeFamACTC1
HOVERGENP68032
HOGENOMP68032
Homologs : HomoloGeneACTC1
Homology/Alignments : Family Browser (UCSC)ACTC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTC1
dbVarACTC1
ClinVarACTC1
1000_GenomesACTC1 
Exome Variant ServerACTC1
ExAC (Exome Aggregation Consortium)ACTC1 (select the gene name)
Genetic variants : HAPMAP70
Genomic Variants (DGV)ACTC1 [DGVbeta]
DECIPHER (Syndromes)15:35080297-35087927  ENSG00000159251
CONAN: Copy Number AnalysisACTC1 
Mutations
ICGC Data PortalACTC1 
TCGA Data PortalACTC1 
Broad Tumor PortalACTC1
OASIS PortalACTC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACTC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ACTC1
DgiDB (Drug Gene Interaction Database)ACTC1
DoCM (Curated mutations)ACTC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACTC1 (select a term)
intoGenACTC1
Cancer3DACTC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102540    612098    612794    613424   
Orphanet635    10750    14120   
MedgenACTC1
Genetic Testing Registry ACTC1
NextProtP68032 [Medical]
TSGene70
GENETestsACTC1
Huge Navigator ACTC1 [HugePedia]
snp3D : Map Gene to Disease70
BioCentury BCIQACTC1
ClinGenACTC1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD70
Chemical/Pharm GKB GenePA162375571
Clinical trialACTC1
Miscellaneous
canSAR (ICR)ACTC1 (select the gene name)
Probes
Litterature
PubMed168 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACTC1
EVEXACTC1
GoPubMedACTC1
iHOPACTC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:30:05 CET 2016

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