Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACTC1 (actin, alpha, cardiac muscle 1)

Identity

Other namesACTC
ASD5
CMD1R
CMH11
LVNC4
HGNC (Hugo) ACTC1
LocusID (NCBI) 70
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

External links

Nomenclature
HGNC (Hugo)ACTC1   143
Cards
Entrez_Gene (NCBI)ACTC1  70  actin, alpha, cardiac muscle 1
GeneCards (Weizmann)ACTC1
Ensembl (Hinxton)ENSG00000159251 [Gene_View]  chr15:35080297-35087927 [Contig_View]  ACTC1 [Vega]
ICGC DataPortalENSG00000159251
cBioPortalACTC1
AceView (NCBI)ACTC1
Genatlas (Paris)ACTC1
WikiGenes70
SOURCE (Princeton)NM_005159
Genomic and cartography
GoldenPath (UCSC)ACTC1  -  15q14   chr15:35080297-35087927 -  15q14   [Description]    (hg19-Feb_2009)
EnsemblACTC1 - 15q14 [CytoView]
Mapping of homologs : NCBIACTC1 [Mapview]
OMIM102540   612098   612794   613424   
Gene and transcription
Genbank (Entrez)AI222203 AK056592 AK129892 AK129902 AK290616
RefSeq transcript (Entrez)NM_005159
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NG_007553 NT_010194 NW_001838214 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP68032 (Uniprot)
NextProtP68032  [Medical]
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-related [organisation]   Actin/actin-like_CS [organisation]   Actin_CS [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP68032
HPRD00015
IPIIPI00023006   IPI00930343   IPI01011107   
Protein Interaction databases
DIP (DOE-UCLA)P68032
IntAct (EBI)P68032
FunCoupENSG00000159251
BioGRIDACTC1
InParanoidP68032
Interologous Interaction database P68032
IntegromeDBACTC1
STRING (EMBL)ACTC1
Ontologies - Pathways
Ontology : AmiGOATP binding  extracellular space  cytoplasm  cytosol  actin filament  ATP catabolic process  apoptotic process  membrane  ATPase activity  myosin binding  myosin binding  sarcomere  actin filament-based movement  muscle filament sliding  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  response to ethanol  cardiac myofibril assembly  cardiac muscle tissue morphogenesis  heart contraction  cardiac muscle contraction  extracellular vesicular exosome  blood microparticle  
Ontology : EGO-EBIATP binding  extracellular space  cytoplasm  cytosol  actin filament  ATP catabolic process  apoptotic process  membrane  ATPase activity  myosin binding  myosin binding  sarcomere  actin filament-based movement  muscle filament sliding  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  response to ethanol  cardiac myofibril assembly  cardiac muscle tissue morphogenesis  heart contraction  cardiac muscle contraction  extracellular vesicular exosome  blood microparticle  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
Protein Interaction DatabaseACTC1
Wikipedia pathwaysACTC1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ACTC1
snp3D : Map Gene to Disease70
SNP (GeneSNP Utah)ACTC1
SNP : HGBaseACTC1
Genetic variants : HAPMAPACTC1
Exome VariantACTC1
1000_GenomesACTC1 
ICGC programENSG00000159251 
Somatic Mutations in Cancer : COSMICACTC1 
CONAN: Copy Number AnalysisACTC1 
Mutations and Diseases : HGMDACTC1
Genomic VariantsACTC1  ACTC1 [DGVbeta]
dbVarACTC1
ClinVarACTC1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM102540    612098    612794    613424   
MedgenACTC1
GENETestsACTC1
Disease Genetic AssociationACTC1
Huge Navigator ACTC1 [HugePedia]  ACTC1 [HugeCancerGEM]
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
PubMed167 Pubmed reference(s) in Entrez
CoreMineACTC1
iHOPACTC1
OncoSearchACTC1
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 Jul 26 14:22:59 CEST 2014

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