Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACTG1 (actin, gamma 1)

Identity

Other namesACT
ACTG
BRWS2
DFNA20
DFNA26
HEL-176
HGNC (Hugo) ACTG1
LocusID (NCBI) 71
Location 17q25.3
Location_base_pair Starts at 79476997 and ends at 79479892 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)ACTG1   144
Cards
Entrez_Gene (NCBI)ACTG1  71  actin, gamma 1
GeneCards (Weizmann)ACTG1
Ensembl (Hinxton)ENSG00000184009 [Gene_View]  chr17:79476997-79479892 [Contig_View]  ACTG1 [Vega]
ICGC DataPortalENSG00000184009
cBioPortalACTG1
AceView (NCBI)ACTG1
Genatlas (Paris)ACTG1
WikiGenes71
SOURCE (Princeton)NM_001199954 NM_001614
Genomic and cartography
GoldenPath (UCSC)ACTG1  -  17q25.3   chr17:79476997-79479892 -  17q25.3   [Description]    (hg19-Feb_2009)
EnsemblACTG1 - 17q25.3 [CytoView]
Mapping of homologs : NCBIACTG1 [Mapview]
OMIM102560   604717   614583   
Gene and transcription
Genbank (Entrez)AK291937 AK301175 AK304637 BC000292 BC001920
RefSeq transcript (Entrez)NM_001199954 NM_001614
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_011433 NT_010783 NW_001838458 NW_004929407
Consensus coding sequences : CCDS (NCBI)ACTG1
Cluster EST : UnigeneHs.713764 [ NCBI ]
CGAP (NCI)Hs.713764
Alternative Splicing : Fast-db (Paris)GSHG0013816
Alternative Splicing GalleryENSG00000184009
Gene ExpressionACTG1 [ NCBI-GEO ]     ACTG1 [ SEEK ]   ACTG1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP63261 (Uniprot)
NextProtP63261  [Medical]
With graphics : InterProP63261
Splice isoforms : SwissVarP63261 (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 : CluSTrP63261
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
DMDM Disease mutations71
Blocks (Seattle)P63261
Human Protein AtlasENSG00000184009 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP63261
HPRD00017
IPIIPI00021440   IPI00930226   IPI01011344   IPI00409757   IPI01018261   
Protein Interaction databases
DIP (DOE-UCLA)P63261
IntAct (EBI)P63261
FunCoupENSG00000184009
BioGRIDACTG1
InParanoidP63261
Interologous Interaction database P63261
IntegromeDBACTG1
STRING (EMBL)ACTG1
Ontologies - Pathways
Ontology : AmiGOretina homeostasis  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  nucleus  cytosol  cytoskeleton  cellular component movement  axon guidance  membrane  myofibril  filamentous actin  cell junction assembly  adherens junction organization  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  innate immune response  sarcomere organization  cell-cell junction organization  membrane organization  extracellular vesicular exosome  blood microparticle  
Ontology : EGO-EBIretina homeostasis  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  nucleus  cytosol  cytoskeleton  cellular component movement  axon guidance  membrane  myofibril  filamentous actin  cell junction assembly  adherens junction organization  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  innate immune response  sarcomere organization  cell-cell junction organization  membrane organization  extracellular vesicular exosome  blood microparticle  
Pathways : BIOCARTAHIV-I Nef: negative effector of Fas and TNF [Genes]   
Pathways : KEGGRap1 signaling pathway    Phagosome    Hippo signaling pathway    Focal adhesion    Adherens junction    Tight junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton    Thyroid hormone signaling pathway    Bacterial invasion of epithelial cells    Vibrio cholerae infection    Pathogenic Escherichia coli infection    Shigellosis    Salmonella infection    Influenza A    Proteoglycans in cancer    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy    Viral myocarditis   
Protein Interaction DatabaseACTG1
Wikipedia pathwaysACTG1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ACTG1
snp3D : Map Gene to Disease71
SNP (GeneSNP Utah)ACTG1
SNP : HGBaseACTG1
Genetic variants : HAPMAPACTG1
Exome VariantACTG1
1000_GenomesACTG1 
ICGC programENSG00000184009 
Somatic Mutations in Cancer : COSMICACTG1 
CONAN: Copy Number AnalysisACTG1 
Mutations and Diseases : HGMDACTG1
Genomic VariantsACTG1  ACTG1 [DGVbeta]
dbVarACTG1
ClinVarACTG1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM102560    604717    614583   
MedgenACTG1
GENETestsACTG1
Disease Genetic AssociationACTG1
Huge Navigator ACTG1 [HugePedia]  ACTG1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneACTG1
Homology/Alignments : Family Browser (UCSC)ACTG1
Phylogenetic Trees/Animal Genes : TreeFamACTG1
Chemical/Protein Interactions : CTD71
Chemical/Pharm GKB GenePA24468
Clinical trialACTG1
Cancer Resource (Charite)ENSG00000184009
Other databases
Probes
Litterature
PubMed202 Pubmed reference(s) in Entrez
CoreMineACTG1
iHOPACTG1
OncoSearchACTG1
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 : Wed Jul 30 13:41:33 CEST 2014

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