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ACTN1 (actinin alpha 1)

Identity

Other aliasBDPLT15
HGNC (Hugo) ACTN1
LocusID (NCBI) 87
Atlas_Id 47580
Location 14q24.1  [Link to chromosome band 14q24]
Location_base_pair Starts at 68874123 and ends at 68979366 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)
ACTN1 (14q24.1) / ACTN1 (14q24.1)ACTN1 (14q24.1) / CNOT10 (3p22.3)ACTN1 (14q24.1) / FLOT2 (17q11.2)
ACTN1 (14q24.1) / KDM6B (17p13.1)ACTN1 (14q24.1) / SCGN (6p22.2)ACTN1 (14q24.1) / SERPINE1 (7q22.1)
BABAM1 (19p13.11) / ACTN1 (14q24.1)CYHR1 (8q24.3) / ACTN1 (14q24.1)HNRNPH1 (5q35.3) / ACTN1 (14q24.1)
RPL4 (15q22.31) / ACTN1 (14q24.1)SPATS2 (12q13.12) / ACTN1 (14q24.1)SYNE2 (14q23.2) / ACTN1 (14q24.1)
VWF (12p13.31) / ACTN1 (14q24.1)ACTN1 14q24.1 / SCGN 6p22.2SYNE2 14q23.2 / ACTN1 14q24.1

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) [ 2 ]
  t(6;14)(p22;q24) ACTN1/SCGN
t(14;14)(q23;q24) SYNE2/ACTN1

External links

Nomenclature
HGNC (Hugo)ACTN1   163
LRG (Locus Reference Genomic)LRG_886
Cards
Entrez_Gene (NCBI)ACTN1  87  actinin alpha 1
AliasesBDPLT15
GeneCards (Weizmann)ACTN1
Ensembl hg19 (Hinxton)ENSG00000072110 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000072110 [Gene_View]  ENSG00000072110 [Sequence]  chr14:68874123-68979366 [Contig_View]  ACTN1 [Vega]
ICGC DataPortalENSG00000072110
TCGA cBioPortalACTN1
AceView (NCBI)ACTN1
Genatlas (Paris)ACTN1
WikiGenes87
SOURCE (Princeton)ACTN1
Genetics Home Reference (NIH)ACTN1
Genomic and cartography
GoldenPath hg38 (UCSC)ACTN1  -     chr14:68874123-68979366 -  14q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACTN1  -     14q24.1   [Description]    (hg19-Feb_2009)
EnsemblACTN1 - 14q24.1 [CytoView hg19]  ACTN1 - 14q24.1 [CytoView hg38]
Mapping of homologs : NCBIACTN1 [Mapview hg19]  ACTN1 [Mapview hg38]
OMIM102575   615193   
Gene and transcription
Genbank (Entrez)AJ844628 AK098203 AK124378 AK225782 AK294317
RefSeq transcript (Entrez)NM_001102 NM_001130004 NM_001130005
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACTN1
Cluster EST : UnigeneHs.509765 [ NCBI ]
CGAP (NCI)Hs.509765
Alternative Splicing GalleryENSG00000072110
Gene ExpressionACTN1 [ NCBI-GEO ]   ACTN1 [ EBI - ARRAY_EXPRESS ]   ACTN1 [ SEEK ]   ACTN1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACTN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)87
GTEX Portal (Tissue expression)ACTN1
Human Protein AtlasENSG00000072110-ACTN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12814   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12814  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12814
Splice isoforms : SwissVarP12814
PhosPhoSitePlusP12814
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    Alpha-actinin_1    CH-domain    CH_dom_sf    EF-hand-dom_pair    EF-hand_Ca_insen    EF_Hand_1_Ca_BS    EF_hand_dom    Spectrin/alpha-actinin    Spectrin_repeat   
Domain families : Pfam (Sanger)CH (PF00307)    EFhand_Ca_insen (PF08726)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00307    pfam08726    pfam00435   
Domain families : Smart (EMBL)CH (SM00033)  EFh (SM00054)  SPEC (SM00150)  
Conserved Domain (NCBI)ACTN1
DMDM Disease mutations87
Blocks (Seattle)ACTN1
PDB (SRS)2EYI    2EYN    2N8Y    2N8Z   
PDB (PDBSum)2EYI    2EYN    2N8Y    2N8Z   
PDB (IMB)2EYI    2EYN    2N8Y    2N8Z   
PDB (RSDB)2EYI    2EYN    2N8Y    2N8Z   
Structural Biology KnowledgeBase2EYI    2EYN    2N8Y    2N8Z   
SCOP (Structural Classification of Proteins)2EYI    2EYN    2N8Y    2N8Z   
CATH (Classification of proteins structures)2EYI    2EYN    2N8Y    2N8Z   
SuperfamilyP12814
Human Protein Atlas [tissue]ENSG00000072110-ACTN1 [tissue]
Peptide AtlasP12814
HPRD00020
IPIIPI00013508   IPI00909239   IPI00921118   IPI01009456   IPI01024949   IPI01024806   IPI01025172   IPI01025024   IPI01026323   IPI01026196   IPI01026210   IPI01026407   IPI01011340   IPI00759776   
Protein Interaction databases
DIP (DOE-UCLA)P12814
IntAct (EBI)P12814
FunCoupENSG00000072110
BioGRIDACTN1
STRING (EMBL)ACTN1
ZODIACACTN1
Ontologies - Pathways
QuickGOP12814
Ontology : AmiGOstress fiber  ruffle  platelet degranulation  double-stranded RNA binding  integrin binding  integrin binding  calcium ion binding  protein binding  extracellular region  extracellular space  intracellular  cytoplasm  cytosol  actin filament  plasma membrane  brush border  cell-cell junction  fascia adherens  focal adhesion  focal adhesion  focal adhesion  actin filament organization  vinculin binding  vinculin binding  Z disc  platelet activation  platelet formation  nuclear receptor transcription coactivator activity  platelet alpha granule lumen  pseudopodium  platelet morphogenesis  protein homodimerization activity  regulation of apoptotic process  cell projection  ion channel binding  focal adhesion assembly  actin filament binding  actin filament bundle assembly  negative regulation of cellular component movement  actin filament network formation  actin crosslink formation  extracellular exosome  platelet aggregation  glutamatergic synapse  glutamatergic synapse  glutamatergic synapse  postsynapse organization  structural constituent of postsynapse  structural constituent of postsynapse  structural constituent of postsynapse  positive regulation of nucleic acid-templated transcription  
Ontology : EGO-EBIstress fiber  ruffle  platelet degranulation  double-stranded RNA binding  integrin binding  integrin binding  calcium ion binding  protein binding  extracellular region  extracellular space  intracellular  cytoplasm  cytosol  actin filament  plasma membrane  brush border  cell-cell junction  fascia adherens  focal adhesion  focal adhesion  focal adhesion  actin filament organization  vinculin binding  vinculin binding  Z disc  platelet activation  platelet formation  nuclear receptor transcription coactivator activity  platelet alpha granule lumen  pseudopodium  platelet morphogenesis  protein homodimerization activity  regulation of apoptotic process  cell projection  ion channel binding  focal adhesion assembly  actin filament binding  actin filament bundle assembly  negative regulation of cellular component movement  actin filament network formation  actin crosslink formation  extracellular exosome  platelet aggregation  glutamatergic synapse  glutamatergic synapse  glutamatergic synapse  postsynapse organization  structural constituent of postsynapse  structural constituent of postsynapse  structural constituent of postsynapse  positive regulation of nucleic acid-templated transcription  
Pathways : KEGGFocal adhesion    Adherens junction    Tight junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton    Amoebiasis    Viral carcinogenesis    Systemic lupus erythematosus    Arrhythmogenic right ventricular cardiomyopathy (ARVC)   
NDEx NetworkACTN1
Atlas of Cancer Signalling NetworkACTN1
Wikipedia pathwaysACTN1
Orthology - Evolution
OrthoDB87
GeneTree (enSembl)ENSG00000072110
Phylogenetic Trees/Animal Genes : TreeFamACTN1
HOVERGENP12814
HOGENOMP12814
Homologs : HomoloGeneACTN1
Homology/Alignments : Family Browser (UCSC)ACTN1
Gene fusions - Rearrangements
Fusion : MitelmanACTN1/SCGN [14q24.1/6p22.2]  
Fusion : MitelmanSYNE2/ACTN1 [14q23.2/14q24.1]  [t(14;14)(q23;q24)]  
Fusion PortalACTN1 14q24.1 SCGN 6p22.2 BRCA
Fusion PortalSYNE2 14q23.2 ACTN1 14q24.1 LUAD
Fusion : QuiverACTN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTN1
dbVarACTN1
ClinVarACTN1
1000_GenomesACTN1 
Exome Variant ServerACTN1
ExAC (Exome Aggregation Consortium)ENSG00000072110
GNOMAD BrowserENSG00000072110
Varsome BrowserACTN1
Genetic variants : HAPMAP87
Genomic Variants (DGV)ACTN1 [DGVbeta]
DECIPHERACTN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACTN1 
Mutations
ICGC Data PortalACTN1 
TCGA Data PortalACTN1 
Broad Tumor PortalACTN1
OASIS PortalACTN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACTN1
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
BioMutasearch ACTN1
DgiDB (Drug Gene Interaction Database)ACTN1
DoCM (Curated mutations)ACTN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACTN1 (select a term)
intoGenACTN1
Cancer3DACTN1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102575    615193   
Orphanet17007   
DisGeNETACTN1
MedgenACTN1
Genetic Testing Registry ACTN1
NextProtP12814 [Medical]
TSGene87
GENETestsACTN1
Target ValidationACTN1
Huge Navigator ACTN1 [HugePedia]
snp3D : Map Gene to Disease87
BioCentury BCIQACTN1
ClinGenACTN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD87
Chemical/Pharm GKB GenePA24
Clinical trialACTN1
Miscellaneous
canSAR (ICR)ACTN1 (select the gene name)
Probes
Litterature
PubMed203 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACTN1
EVEXACTN1
GoPubMedACTN1
iHOPACTN1
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 Nov 6 10:49:34 CET 2018
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