Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CTNNA1 (catenin alpha 1)

Identity

Alias_namescatenin (cadherin-associated protein), alpha 1 (102kD)
catenin (cadherin-associated protein), alpha 1, 102kDa
catenin (cadherin-associated protein), alpha 1
Alias_symbol (synonym)CAP102
Other aliasMDPT2
HGNC (Hugo) CTNNA1
LocusID (NCBI) 1495
Atlas_Id 366
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 138753386 and ends at 138935034 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)
ARRDC1 (9q34.3) / CTNNA1 (5q31.2)CTNNA1 (5q31.2) / CTNNA1 (5q31.2)CTNNA1 (5q31.2) / HEYL (1p34.3)
CTNNA1 (5q31.2) / PTPRD (9p24.1)CTNNA1 (5q31.2) / SLC38A9 (5q11.2)FUT8 (14q23.3) / CTNNA1 (5q31.2)
IL17RD (3p14.3) / CTNNA1 (5q31.2)JAZF1 (7p15.2) / CTNNA1 (5q31.2)MATR3 (5q31.2) / CTNNA1 (5q31.2)
MDH1 (2p15) / CTNNA1 (5q31.2)PAX6 (11p13) / CTNNA1 (5q31.2)SIL1 (5q31.2) / CTNNA1 (5q31.2)
CTNNA1 5q31.2 / SLC38A9 5q11.2MATR3 5q31.2 / CTNNA1 5q31.2

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Classification of myelodysplastic syndromes 2015
t(6;11)(q27;q23) KMT2A/AFDN

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  Squamous cell cancer
Lung: Translocations in Squamous Cell Carcinoma
t(1;5)(p34;q31) CTNNA1/HEYL
t(5;5)(q11;q31) CTNNA1/SLC38A9
t(5;5)(q31;q31) MATR3/CTNNA1

External links

Nomenclature
HGNC (Hugo)CTNNA1   2509
Cards
Entrez_Gene (NCBI)CTNNA1  1495  catenin alpha 1
AliasesCAP102; MDPT2
GeneCards (Weizmann)CTNNA1
Ensembl hg19 (Hinxton)ENSG00000044115 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000044115 [Gene_View]  chr5:138753386-138935034 [Contig_View]  CTNNA1 [Vega]
ICGC DataPortalENSG00000044115
TCGA cBioPortalCTNNA1
AceView (NCBI)CTNNA1
Genatlas (Paris)CTNNA1
WikiGenes1495
SOURCE (Princeton)CTNNA1
Genetics Home Reference (NIH)CTNNA1
Genomic and cartography
GoldenPath hg38 (UCSC)CTNNA1  -     chr5:138753386-138935034 +  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CTNNA1  -     5q31.2   [Description]    (hg19-Feb_2009)
EnsemblCTNNA1 - 5q31.2 [CytoView hg19]  CTNNA1 - 5q31.2 [CytoView hg38]
Mapping of homologs : NCBICTNNA1 [Mapview hg19]  CTNNA1 [Mapview hg38]
OMIM116805   608970   
Gene and transcription
Genbank (Entrez)AI078507 AK055751 AK094151 AK296708 AK300439
RefSeq transcript (Entrez)NM_001290307 NM_001290309 NM_001290310 NM_001290312 NM_001323982 NM_001323983 NM_001323984 NM_001323985 NM_001323986 NM_001323987 NM_001323988 NM_001323989 NM_001323990 NM_001323991 NM_001323992 NM_001323993 NM_001323994 NM_001323995 NM_001323996 NM_001323997 NM_001323998 NM_001323999 NM_001324000 NM_001324001 NM_001324002 NM_001324003 NM_001324004 NM_001324005 NM_001324006 NM_001324007 NM_001324008 NM_001324009 NM_001324010 NM_001324011 NM_001324012 NM_001324013 NM_001903
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CTNNA1
Cluster EST : UnigeneHs.445981 [ NCBI ]
CGAP (NCI)Hs.445981
Alternative Splicing GalleryENSG00000044115
Gene ExpressionCTNNA1 [ NCBI-GEO ]   CTNNA1 [ EBI - ARRAY_EXPRESS ]   CTNNA1 [ SEEK ]   CTNNA1 [ MEM ]
Gene Expression Viewer (FireBrowse)CTNNA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1495
GTEX Portal (Tissue expression)CTNNA1
Human Protein AtlasENSG00000044115-CTNNA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35221   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35221  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35221
Splice isoforms : SwissVarP35221
PhosPhoSitePlusP35221
Domaine pattern : Prosite (Expaxy)VINCULIN_1 (PS00663)   
Domains : Interpro (EBI)Alpha_catenin    CTNNA1    Vinculin/catenin    Vinculin_CS   
Domain families : Pfam (Sanger)Vinculin (PF01044)   
Domain families : Pfam (NCBI)pfam01044   
Conserved Domain (NCBI)CTNNA1
DMDM Disease mutations1495
Blocks (Seattle)CTNNA1
PDB (SRS)1H6G    4EHP    4IGG   
PDB (PDBSum)1H6G    4EHP    4IGG   
PDB (IMB)1H6G    4EHP    4IGG   
PDB (RSDB)1H6G    4EHP    4IGG   
Structural Biology KnowledgeBase1H6G    4EHP    4IGG   
SCOP (Structural Classification of Proteins)1H6G    4EHP    4IGG   
CATH (Classification of proteins structures)1H6G    4EHP    4IGG   
SuperfamilyP35221
Human Protein Atlas [tissue]ENSG00000044115-CTNNA1 [tissue]
Peptide AtlasP35221
HPRD00285
IPI###############################################################################################################################################################################################################################################################   
Protein Interaction databases
DIP (DOE-UCLA)P35221
IntAct (EBI)P35221
FunCoupENSG00000044115
BioGRIDCTNNA1
STRING (EMBL)CTNNA1
ZODIACCTNNA1
Ontologies - Pathways
QuickGOP35221
Ontology : AmiGOovarian follicle development  acrosomal vesicle  RNA binding  structural molecule activity  protein binding  Golgi apparatus  cytosol  plasma membrane  plasma membrane  cell-cell junction  zonula adherens  focal adhesion  actin filament organization  cell adhesion  establishment or maintenance of cell polarity  negative regulation of neuroblast proliferation  aging  beta-catenin binding  male gonad development  intercalated disc  actin cytoskeleton  gap junction assembly  catenin complex  flotillin complex  vinculin binding  lamellipodium  cell junction  axon regeneration  adherens junction organization  cellular protein localization  odontogenesis of dentin-containing tooth  identical protein binding  intracellular membrane-bounded organelle  apical junction assembly  response to estrogen  gamma-catenin binding  cadherin binding  cadherin binding  positive regulation of smoothened signaling pathway  protein heterodimerization activity  actin filament binding  positive regulation of muscle cell differentiation  protein heterooligomerization  cellular response to indole-3-methanol  epithelial cell-cell adhesion  negative regulation of cell motility  negative regulation of integrin-mediated signaling pathway  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  positive regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBIovarian follicle development  acrosomal vesicle  RNA binding  structural molecule activity  protein binding  Golgi apparatus  cytosol  plasma membrane  plasma membrane  cell-cell junction  zonula adherens  focal adhesion  actin filament organization  cell adhesion  establishment or maintenance of cell polarity  negative regulation of neuroblast proliferation  aging  beta-catenin binding  male gonad development  intercalated disc  actin cytoskeleton  gap junction assembly  catenin complex  flotillin complex  vinculin binding  lamellipodium  cell junction  axon regeneration  adherens junction organization  cellular protein localization  odontogenesis of dentin-containing tooth  identical protein binding  intracellular membrane-bounded organelle  apical junction assembly  response to estrogen  gamma-catenin binding  cadherin binding  cadherin binding  positive regulation of smoothened signaling pathway  protein heterodimerization activity  actin filament binding  positive regulation of muscle cell differentiation  protein heterooligomerization  cellular response to indole-3-methanol  epithelial cell-cell adhesion  negative regulation of cell motility  negative regulation of integrin-mediated signaling pathway  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  positive regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Pathways : BIOCARTACell to Cell Adhesion Signaling [Genes]   
Pathways : KEGGAdherens junction    Tight junction    Leukocyte transendothelial migration   
NDEx NetworkCTNNA1
Atlas of Cancer Signalling NetworkCTNNA1
Wikipedia pathwaysCTNNA1
Orthology - Evolution
OrthoDB1495
GeneTree (enSembl)ENSG00000044115
Phylogenetic Trees/Animal Genes : TreeFamCTNNA1
HOVERGENP35221
HOGENOMP35221
Homologs : HomoloGeneCTNNA1
Homology/Alignments : Family Browser (UCSC)CTNNA1
Gene fusions - Rearrangements
Fusion : MitelmanCTNNA1/HEYL [5q31.2/1p34.3]  
Fusion : MitelmanCTNNA1/SLC38A9 [5q31.2/5q11.2]  [t(5;5)(q11;q31)]  
Fusion : MitelmanMATR3/CTNNA1 [5q31.2/5q31.2]  [t(5;5)(q31;q31)]  
Fusion: TCGA_MDACCCTNNA1 5q31.2 SLC38A9 5q11.2 LUAD
Fusion: TCGA_MDACCMATR3 5q31.2 CTNNA1 5q31.2 BRCA
Fusion PortalCTNNA1 5q31.2 SLC38A9 5q11.2 LUAD
Fusion PortalMATR3 5q31.2 CTNNA1 5q31.2 BRCA
Fusion : QuiverCTNNA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCTNNA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CTNNA1
dbVarCTNNA1
ClinVarCTNNA1
1000_GenomesCTNNA1 
Exome Variant ServerCTNNA1
ExAC (Exome Aggregation Consortium)ENSG00000044115
GNOMAD BrowserENSG00000044115
Genetic variants : HAPMAP1495
Genomic Variants (DGV)CTNNA1 [DGVbeta]
DECIPHERCTNNA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCTNNA1 
Mutations
ICGC Data PortalCTNNA1 
TCGA Data PortalCTNNA1 
Broad Tumor PortalCTNNA1
OASIS PortalCTNNA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCTNNA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCTNNA1
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 CTNNA1
DgiDB (Drug Gene Interaction Database)CTNNA1
DoCM (Curated mutations)CTNNA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CTNNA1 (select a term)
intoGenCTNNA1
Cancer3DCTNNA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM116805    608970   
Orphanet8758    14018   
DisGeNETCTNNA1
MedgenCTNNA1
Genetic Testing Registry CTNNA1
NextProtP35221 [Medical]
TSGene1495
GENETestsCTNNA1
Target ValidationCTNNA1
Huge Navigator CTNNA1 [HugePedia]
snp3D : Map Gene to Disease1495
BioCentury BCIQCTNNA1
ClinGenCTNNA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1495
Chemical/Pharm GKB GenePA27008
Clinical trialCTNNA1
Miscellaneous
canSAR (ICR)CTNNA1 (select the gene name)
Probes
Litterature
PubMed170 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCTNNA1
EVEXCTNNA1
GoPubMedCTNNA1
iHOPCTNNA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Feb 28 13:08:19 CET 2018
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