Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACTG1 (actin gamma 1)

Identity

Alias (NCBI)ACT
ACTG
DFNA20
DFNA26
HEL-176
HGNC (Hugo) ACTG1
HGNC Previous nameACTG
 DFNA20
 DFNA26
HGNC Previous namedeafness, autosomal dominant 20
 deafness, autosomal dominant 26
LocusID (NCBI) 71
Atlas_Id 561
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 81509971 and ends at 81512799 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(3;17)(p14;q25) ACTG1/MITF
t(12;17)(p12;q25) ACTG1/PLEKHA5
t(17;19)(q25;q13) ACTG1/PPP1R12C


External links

Nomenclature
HGNC (Hugo)ACTG1   144
Cards
Entrez_Gene (NCBI)ACTG1  71  actin gamma 1
AliasesACT; ACTG; DFNA20; DFNA26; 
HEL-176
GeneCards (Weizmann)ACTG1
Ensembl hg19 (Hinxton)ENSG00000184009 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184009 [Gene_View]  ENSG00000184009 [Sequence]  chr17:81509971-81512799 [Contig_View]  ACTG1 [Vega]
ICGC DataPortalENSG00000184009
TCGA cBioPortalACTG1
AceView (NCBI)ACTG1
Genatlas (Paris)ACTG1
WikiGenes71
SOURCE (Princeton)ACTG1
Genetics Home Reference (NIH)ACTG1
Genomic and cartography
GoldenPath hg38 (UCSC)ACTG1  -     chr17:81509971-81512799 -  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACTG1  -     17q25.3   [Description]    (hg19-Feb_2009)
GoldenPathACTG1 - 17q25.3 [CytoView hg19]  ACTG1 - 17q25.3 [CytoView hg38]
ImmunoBaseENSG00000184009
genome Data Viewer NCBIACTG1 [Mapview hg19]  
OMIM102560   604717   614583   
Gene and transcription
Genbank (Entrez)AK291937 AK301175 AK304637 BC000292 BC001920
RefSeq transcript (Entrez)NM_001199954 NM_001614
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACTG1
Alternative Splicing GalleryENSG00000184009
Gene ExpressionACTG1 [ NCBI-GEO ]   ACTG1 [ EBI - ARRAY_EXPRESS ]   ACTG1 [ SEEK ]   ACTG1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACTG1 [ Firebrowse - Broad ]
GenevisibleExpression of ACTG1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)71
GTEX Portal (Tissue expression)ACTG1
Human Protein AtlasENSG00000184009-ACTG1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP63261   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP63261  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP63261
Splice isoforms : SwissVarP63261
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)  
Conserved Domain (NCBI)ACTG1
DMDM Disease mutations71
Blocks (Seattle)ACTG1
PDB (RSDB)5JLH    6CXI    6CXJ    6G2T   
PDB Europe5JLH    6CXI    6CXJ    6G2T   
PDB (PDBSum)5JLH    6CXI    6CXJ    6G2T   
PDB (IMB)5JLH    6CXI    6CXJ    6G2T   
Structural Biology KnowledgeBase5JLH    6CXI    6CXJ    6G2T   
SCOP (Structural Classification of Proteins)5JLH    6CXI    6CXJ    6G2T   
CATH (Classification of proteins structures)5JLH    6CXI    6CXJ    6G2T   
SuperfamilyP63261
Human Protein Atlas [tissue]ENSG00000184009-ACTG1 [tissue]
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 : AmiGOangiogenesis  morphogenesis of a polarized epithelium  retina homeostasis  structural constituent of cytoskeleton  protein binding  profilin binding  ATP binding  extracellular space  nucleus  cytosol  cytoskeleton  cytoskeleton  actin filament  actin filament  plasma membrane  plasma membrane  cell-cell junction  focal adhesion  positive regulation of gene expression  membrane  myofibril  positive regulation of cell migration  ubiquitin protein ligase binding  filamentous actin  cell junction assembly  maintenance of permeability of blood-brain barrier  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  apical junction complex  calyx of Held  sarcomere organization  phagocytic vesicle  ephrin receptor signaling pathway  synaptic vesicle endocytosis  regulation of stress fiber assembly  regulation of focal adhesion assembly  membrane organization  extracellular exosome  extracellular exosome  platelet aggregation  cellular response to interferon-gamma  blood microparticle  positive regulation of wound healing  dense body  Schaffer collateral - CA1 synapse  structural constituent of postsynaptic actin cytoskeleton  postsynaptic actin cytoskeleton organization  tight junction assembly  protein localization to bicellular tight junction  
Ontology : EGO-EBIangiogenesis  morphogenesis of a polarized epithelium  retina homeostasis  structural constituent of cytoskeleton  protein binding  profilin binding  ATP binding  extracellular space  nucleus  cytosol  cytoskeleton  cytoskeleton  actin filament  actin filament  plasma membrane  plasma membrane  cell-cell junction  focal adhesion  positive regulation of gene expression  membrane  myofibril  positive regulation of cell migration  ubiquitin protein ligase binding  filamentous actin  cell junction assembly  maintenance of permeability of blood-brain barrier  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  apical junction complex  calyx of Held  sarcomere organization  phagocytic vesicle  ephrin receptor signaling pathway  synaptic vesicle endocytosis  regulation of stress fiber assembly  regulation of focal adhesion assembly  membrane organization  extracellular exosome  extracellular exosome  platelet aggregation  cellular response to interferon-gamma  blood microparticle  positive regulation of wound healing  dense body  Schaffer collateral - CA1 synapse  structural constituent of postsynaptic actin cytoskeleton  postsynaptic actin cytoskeleton organization  tight junction assembly  protein localization to bicellular tight junction  
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 NetworkACTG1
Atlas of Cancer Signalling NetworkACTG1
Wikipedia pathwaysACTG1
Orthology - Evolution
OrthoDB71
GeneTree (enSembl)ENSG00000184009
Phylogenetic Trees/Animal Genes : TreeFamACTG1
HOGENOMP63261
Homologs : HomoloGeneACTG1
Homology/Alignments : Family Browser (UCSC)ACTG1
Gene fusions - Rearrangements
Fusion : MitelmanACTG1/MITF [17q25.3/3p13]  
Fusion : MitelmanACTG1/PLEKHA5 [17q25.3/12p12.3]  
Fusion : MitelmanACTG1/PPP1R12C [17q25.3/19q13.42]  
Fusion PortalACTG1 17q25.3 PLEKHA5 12p12.3 LUAD
Fusion Cancer (Beijing)LOC644961 [ACTG1]  -  17q25.3 [FUSC000700]  [FUSC000700]  [FUSC000700]  [FUSC000700]  [FUSC000700]  [FUSC000700]  [FUSC000700]
Fusion Cancer (Beijing)LRP8 [1p32.3]  -  ACTG1 [17q25.3]  [FUSC001339]
Fusion : QuiverACTG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTG1
dbVarACTG1
ClinVarACTG1
1000_GenomesACTG1 
Exome Variant ServerACTG1
GNOMAD BrowserENSG00000184009
Varsome BrowserACTG1
Genetic variants : HAPMAP71
Genomic Variants (DGV)ACTG1 [DGVbeta]
DECIPHERACTG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACTG1 
Mutations
ICGC Data PortalACTG1 
TCGA Data PortalACTG1 
Broad Tumor PortalACTG1
OASIS PortalACTG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTG1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DACTG1
Mutations and Diseases : HGMDACTG1
intOGen PortalACTG1
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
Cancer3DACTG1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102560    604717    614583   
Orphanet3066    12046   
DisGeNETACTG1
MedgenACTG1
Genetic Testing Registry ACTG1
NextProtP63261 [Medical]
TSGene71
GENETestsACTG1
Target ValidationACTG1
Huge Navigator ACTG1 [HugePedia]
snp3D : Map Gene to Disease71
BioCentury BCIQACTG1
ClinGenACTG1
Clinical trials, drugs, therapy
Protein Interactions : CTD71
Pharm GKB GenePA24468
Clinical trialACTG1
Miscellaneous
canSAR (ICR)ACTG1 (select the gene name)
HarmonizomeACTG1
DataMed IndexACTG1
Probes
Litterature
PubMed271 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACTG1
EVEXACTG1
GoPubMedACTG1
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 : Thu Jul 16 15:01:57 CEST 2020

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