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ACTG1 (actin gamma 1)

Identity

Other namesACT
ACTG
BRWS2
DFNA20
DFNA26
HEL-176
HGNC (Hugo) ACTG1
LocusID (NCBI) 71
Atlas_Id 561
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 79476997 and ends at 79479892 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACTG1 (17q25.3) / ACTG1 (17q25.3)ACTG1 (17q25.3) / CD74 (5q32)ACTG1 (17q25.3) / COL5A1 (9q34.3)
ACTG1 (17q25.3) / DGCR6L (22q11.21)ACTG1 (17q25.3) / MEIS3 (19q13.32)ACTG1 (17q25.3) / MEPCE (7q22.1)
ACTG1 (17q25.3) / MITF (3p13)ACTG1 (17q25.3) / MROH7 (1p32.3)ACTG1 (17q25.3) / MYB (6q23.3)
ACTG1 (17q25.3) / PIGR (1q32.1)ACTG1 (17q25.3) / PLEKHA5 (12p12.3)ACTG1 (17q25.3) / PPP1R12C (19q13.42)
ACTG1 (17q25.3) / RPS5 (19q13.43)ACTG1 (17q25.3) / SLC25A44 (1q22)ACTG1 (17q25.3) / TADA2B (4p16.1)
ACTG1 (17q25.3) / TMSB10 (2p11.2)AKAP2 (9q31.3) / ACTG1 (17q25.3)APBB1IP (10p12.1) / ACTG1 (17q25.3)
CRTAM (11q24.1) / ACTG1 (17q25.3)DAZAP2 (12q13.13) / ACTG1 (17q25.3)EBF1 (5q33.3) / ACTG1 (17q25.3)
GPM6B (Xp22.2) / ACTG1 (17q25.3)LOC644961 () / ACTG1 (17q25.3)LRP8 (1p32.3) / ACTG1 (17q25.3)
RHPN2 (19q13.11) / ACTG1 (17q25.3)RNF114 (20q13.13) / ACTG1 (17q25.3)RPL13A (19q13.33) / ACTG1 (17q25.3)
RPL8 (8q24.3) / ACTG1 (17q25.3)SETDB1 (1q21.3) / ACTG1 (17q25.3)UBA52 (19p13.11) / ACTG1 (17q25.3)
ZMAT2 (5q31.3) / ACTG1 (17q25.3)ACTG1 17q25.3 / PLEKHA5 12p12.3

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
AliasesACT; ACTG; BRWS2; DFNA20; 
DFNA26; HEL-176
GeneCards (Weizmann)ACTG1
Ensembl hg19 (Hinxton)ENSG00000184009 [Gene_View]  chr17:79476997-79479892 [Contig_View]  ACTG1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000184009 [Gene_View]  chr17:79476997-79479892 [Contig_View]  ACTG1 [Vega]
ICGC DataPortalENSG00000184009
TCGA cBioPortalACTG1
AceView (NCBI)ACTG1
Genatlas (Paris)ACTG1
WikiGenes71
SOURCE (Princeton)ACTG1
Genomic and cartography
GoldenPath hg19 (UCSC)ACTG1  -     chr17:79476997-79479892 -  17q25.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACTG1  -     17q25.3   [Description]    (hg38-Dec_2013)
EnsemblACTG1 - 17q25.3 [CytoView hg19]  ACTG1 - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBIACTG1 [Mapview hg19]  ACTG1 [Mapview hg38]
OMIM102560   604717   614583   
Gene and transcription
Genbank (Entrez)AK291937 AK301175 AK304637 BC000292 BC001920
RefSeq transcript (Entrez)NM_001199954 NM_001614
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_011433 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)ACTG1
Cluster EST : UnigeneHs.713764 [ NCBI ]
CGAP (NCI)Hs.713764
Alternative Splicing GalleryENSG00000184009
Gene ExpressionACTG1 [ NCBI-GEO ]   ACTG1 [ EBI - ARRAY_EXPRESS ]   ACTG1 [ SEEK ]   ACTG1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACTG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)71
GTEX Portal (Tissue expression)ACTG1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP63261 (Uniprot)
NextProtP63261  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP63261
Splice isoforms : SwissVarP63261 (Swissvar)
PhosPhoSitePlusP63261
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)  
DMDM Disease mutations71
Blocks (Seattle)ACTG1
SuperfamilyP63261
Human Protein AtlasENSG00000184009
Peptide AtlasP63261
HPRD00017
IPIIPI00021440   IPI00930226   IPI01011344   IPI00409757   IPI01018261   
Protein Interaction databases
DIP (DOE-UCLA)P63261
IntAct (EBI)P63261
FunCoupENSG00000184009
BioGRIDACTG1
STRING (EMBL)ACTG1
ZODIACACTG1
Ontologies - Pathways
QuickGOP63261
Ontology : AmiGOretina homeostasis  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  nucleus  cytosol  cytoskeleton  cytoskeleton  plasma membrane  plasma membrane  focal adhesion  movement of cell or subcellular component  membrane  myofibril  ubiquitin protein ligase binding  filamentous actin  cell junction assembly  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  myelin sheath  sarcomere organization  vascular endothelial growth factor receptor signaling pathway  ephrin receptor signaling pathway  extracellular exosome  platelet aggregation  blood microparticle  dense body  
Ontology : EGO-EBIretina homeostasis  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  nucleus  cytosol  cytoskeleton  cytoskeleton  plasma membrane  plasma membrane  focal adhesion  movement of cell or subcellular component  membrane  myofibril  ubiquitin protein ligase binding  filamentous actin  cell junction assembly  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  myelin sheath  sarcomere organization  vascular endothelial growth factor receptor signaling pathway  ephrin receptor signaling pathway  extracellular exosome  platelet aggregation  blood microparticle  dense body  
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   
NDEx Network
Atlas of Cancer Signalling NetworkACTG1
Wikipedia pathwaysACTG1
Orthology - Evolution
OrthoDB71
GeneTree (enSembl)ENSG00000184009
Phylogenetic Trees/Animal Genes : TreeFamACTG1
Homologs : HomoloGeneACTG1
Homology/Alignments : Family Browser (UCSC)ACTG1
Gene fusions - Rearrangements
Fusion: TCGAACTG1 17q25.3 PLEKHA5 12p12.3 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerACTG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTG1
dbVarACTG1
ClinVarACTG1
1000_GenomesACTG1 
Exome Variant ServerACTG1
ExAC (Exome Aggregation Consortium)ACTG1 (select the gene name)
Genetic variants : HAPMAP71
Genomic Variants (DGV)ACTG1 [DGVbeta]
Mutations
ICGC Data PortalACTG1 
TCGA Data PortalACTG1 
Broad Tumor PortalACTG1
OASIS PortalACTG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTG1 
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
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ACTG1
DgiDB (Drug Gene Interaction Database)ACTG1
DoCM (Curated mutations)ACTG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACTG1 (select a term)
intoGenACTG1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:79476997-79479892  ENSG00000184009
CONAN: Copy Number AnalysisACTG1 
Mutations and Diseases : HGMDACTG1
OMIM102560    604717    614583   
MedgenACTG1
Genetic Testing Registry ACTG1
NextProtP63261 [Medical]
TSGene71
GENETestsACTG1
Huge Navigator ACTG1 [HugePedia]
snp3D : Map Gene to Disease71
BioCentury BCIQACTG1
ClinGenACTG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD71
Chemical/Pharm GKB GenePA24468
Clinical trialACTG1
Miscellaneous
canSAR (ICR)ACTG1 (select the gene name)
Probes
Litterature
PubMed213 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACTG1
EVEXACTG1
GoPubMedACTG1
iHOPACTG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 9 18:58:23 CEST 2016

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