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ACTC1 (actin, alpha, cardiac muscle 1)

Identity

Other namesACTC
ASD5
CMD1R
CMH11
LVNC4
HGNC (Hugo) ACTC1
LocusID (NCBI) 70
Atlas_Id 51388
Location 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
Cards
Entrez_Gene (NCBI)ACTC1  70  actin, alpha, cardiac muscle 1
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
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 : Fast-db (Paris)GSHG0010292
Alternative Splicing GalleryENSG00000159251
Gene ExpressionACTC1 [ NCBI-GEO ]     ACTC1 [ SEEK ]   ACTC1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP68032 (Uniprot)
NextProtP68032  [Medical]  [Publications]
With graphics : InterProP68032
Splice isoforms : SwissVarP68032 (Swissvar)
Domaine pattern : Prosite (Expaxy)ACTINS_1 (PS00406)    ACTINS_2 (PS00432)    ACTINS_ACT_LIKE (PS01132)   
Domains : Interpro (EBI)Actin    Actin/actin-like_CS    Actin_CS   
Related proteins : CluSTrP68032
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
DMDM Disease mutations70
Blocks (Seattle)P68032
Human Protein AtlasENSG00000159251
Peptide AtlasP68032
HPRD00015
IPIIPI00023006   IPI00930343   IPI01011107   
Protein Interaction databases
DIP (DOE-UCLA)P68032
IntAct (EBI)P68032
FunCoupENSG00000159251
BioGRIDACTC1
IntegromeDBACTC1
STRING (EMBL)ACTC1
Ontologies - Pathways
QuickGOP68032
Ontology : AmiGOATP binding  extracellular space  cytoplasm  cytosol  actin filament  focal adhesion  apoptotic process  metabolic 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  metabolic 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   
Protein Interaction DatabaseACTC1
DoCM (Curated mutations)ACTC1
Wikipedia pathwaysACTC1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerACTC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTC1
dbVarACTC1
ClinVarACTC1
1000_GenomesACTC1 
Exome Variant ServerACTC1
SNP (GeneSNP Utah)ACTC1
SNP : HGBaseACTC1
Genetic variants : HAPMAPACTC1
Genomic Variants (DGV)ACTC1 [DGVbeta]
Mutations
ICGC Data PortalACTC1 
TCGA Data PortalACTC1 
Tumor PortalACTC1
Somatic Mutations in Cancer : COSMICACTC1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)15:35080297-35087927
CONAN: Copy Number AnalysisACTC1 
Mutations and Diseases : HGMDACTC1
OMIM102540    612098    612794    613424   
MedgenACTC1
NextProtP68032 [Medical]
GENETestsACTC1
Disease Genetic AssociationACTC1
Huge Navigator ACTC1 [HugePedia]  ACTC1 [HugeCancerGEM]
snp3D : Map Gene to Disease70
DGIdb (Drug Gene Interaction db)ACTC1
BioCentury BCIQACTC1
General knowledge
Homologs : HomoloGeneACTC1
Homology/Alignments : Family Browser (UCSC)ACTC1
Phylogenetic Trees/Animal Genes : TreeFamACTC1
Chemical/Protein Interactions : CTD70
Chemical/Pharm GKB GenePA162375571
Clinical trialACTC1
Cancer Resource (Charite)ENSG00000159251
Other databases
Probes
Litterature
PubMed178 Pubmed reference(s) in Entrez
CoreMineACTC1
GoPubMedACTC1
iHOPACTC1
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:09:33 CEST 2015

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