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CTNNA1 (catenin alpha 1)

Identity

Alias (NCBI)CAP102
MDPT2
HGNC (Hugo) CTNNA1
HGNC Alias symbCAP102
HGNC Alias namealpha-E-catenin
HGNC Previous namecatenin (cadherin-associated protein), alpha 1 (102kD)
LocusID (NCBI) 1495
Atlas_Id 366
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 138753425 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) [ 3 ]
  Classification of myelodysplastic syndromes 2015
t(6;11)(q27;q23) KMT2A::AFDN
t(10;10)(p12;q21) CTNNA3::ARHGAP21

External links

 

Nomenclature
HGNC (Hugo)CTNNA1   2509
Cards
Entrez_Gene (NCBI)CTNNA1    catenin alpha 1
AliasesCAP102; MDPT2
GeneCards (Weizmann)CTNNA1
Ensembl hg19 (Hinxton)ENSG00000044115 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000044115 [Gene_View]  ENSG00000044115 [Sequence]  chr5:138753425-138935034 [Contig_View]  CTNNA1 [Vega]
ICGC DataPortalENSG00000044115
TCGA cBioPortalCTNNA1
AceView (NCBI)CTNNA1
Genatlas (Paris)CTNNA1
SOURCE (Princeton)CTNNA1
Genetics Home Reference (NIH)CTNNA1
Genomic and cartography
GoldenPath hg38 (UCSC)CTNNA1  -     chr5:138753425-138935034 +  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CTNNA1  -     5q31.2   [Description]    (hg19-Feb_2009)
GoldenPathCTNNA1 - 5q31.2 [CytoView hg19]  CTNNA1 - 5q31.2 [CytoView hg38]
ImmunoBaseENSG00000044115
Genome Data Viewer NCBICTNNA1 [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)CTNNA1
Gene ExpressionCTNNA1 [ NCBI-GEO ]   CTNNA1 [ EBI - ARRAY_EXPRESS ]   CTNNA1 [ SEEK ]   CTNNA1 [ MEM ]
Gene Expression Viewer (FireBrowse)CTNNA1 [ Firebrowse - Broad ]
GenevisibleExpression of CTNNA1 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
PhosPhoSitePlusP35221
Domaine pattern : Prosite (Expaxy)VINCULIN_1 (PS00663)   
Domains : Interpro (EBI)Alpha-catenin/vinculin-like_sf    Alpha_catenin    CTNNA1/CTNNA3    Vinculin/catenin    Vinculin_CS   
Domain families : Pfam (Sanger)Vinculin (PF01044)   
Domain families : Pfam (NCBI)pfam01044   
Conserved Domain (NCBI)CTNNA1
PDB (RSDB)1H6G    4EHP    4IGG    6UPV    6V2O    6V2P   
PDB Europe1H6G    4EHP    4IGG    6UPV    6V2O    6V2P   
PDB (PDBSum)1H6G    4EHP    4IGG    6UPV    6V2O    6V2P   
PDB (IMB)1H6G    4EHP    4IGG    6UPV    6V2O    6V2P   
Structural Biology KnowledgeBase1H6G    4EHP    4IGG    6UPV    6V2O    6V2P   
SCOP (Structural Classification of Proteins)1H6G    4EHP    4IGG    6UPV    6V2O    6V2P   
CATH (Classification of proteins structures)1H6G    4EHP    4IGG    6UPV    6V2O    6V2P   
SuperfamilyP35221
AlphaFold pdb e-kbP35221   
Human Protein Atlas [tissue]ENSG00000044115-CTNNA1 [tissue]
HPRD00285
Protein Interaction databases
DIP (DOE-UCLA)P35221
IntAct (EBI)P35221
BioGRIDCTNNA1
STRING (EMBL)CTNNA1
ZODIACCTNNA1
Ontologies - Pathways
QuickGOP35221
Ontology : AmiGOovarian follicle development  acrosomal vesicle  RNA binding  structural molecule activity  protein binding  cytosol  plasma membrane  plasma membrane  cell-cell junction  adherens 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  beta-catenin binding  male gonad development  intercalated disc  actin cytoskeleton  gap junction assembly  catenin complex  catenin complex  cell migration  flotillin complex  vinculin binding  lamellipodium  cell junction  axon regeneration  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  actin filament binding  cellular response to indole-3-methanol  epithelial cell-cell adhesion  cell-cell adhesion  negative regulation of protein localization to nucleus  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  cytosol  plasma membrane  plasma membrane  cell-cell junction  adherens 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  beta-catenin binding  male gonad development  intercalated disc  actin cytoskeleton  gap junction assembly  catenin complex  catenin complex  cell migration  flotillin complex  vinculin binding  lamellipodium  cell junction  axon regeneration  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  actin filament binding  cellular response to indole-3-methanol  epithelial cell-cell adhesion  cell-cell adhesion  negative regulation of protein localization to nucleus  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 : BIOCARTABIOCARTA_CELL2CELLPATHWAY   
Pathways : KEGGKEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC    KEGG_ADHERENS_JUNCTION    KEGG_TIGHT_JUNCTION    KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION    KEGG_PATHWAYS_IN_CANCER    KEGG_ENDOMETRIAL_CANCER   
NDEx NetworkCTNNA1
Atlas of Cancer Signalling NetworkCTNNA1
Wikipedia pathwaysCTNNA1
Orthology - Evolution
OrthoDB1495
GeneTree (enSembl)ENSG00000044115
Phylogenetic Trees/Animal Genes : TreeFamCTNNA1
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]  
Fusion : MitelmanMATR3::CTNNA1 [5q31.2/5q31.2]  
Fusion : QuiverCTNNA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCTNNA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CTNNA1
dbVarCTNNA1
ClinVarCTNNA1
MonarchCTNNA1
1000_GenomesCTNNA1 
Exome Variant ServerCTNNA1
GNOMAD BrowserENSG00000044115
Varsome BrowserCTNNA1
ACMGCTNNA1 variants
VarityP35221
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]  
Somatic Mutations in Cancer : COSMIC3DCTNNA1
Mutations and Diseases : HGMDCTNNA1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCTNNA1
DgiDB (Drug Gene Interaction Database)CTNNA1
DoCM (Curated mutations)CTNNA1
CIViC (Clinical Interpretations of Variants in Cancer)CTNNA1
Cancer3DCTNNA1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM116805    608970   
Orphanet8758    14018   
DisGeNETCTNNA1
MedgenCTNNA1
Genetic Testing Registry CTNNA1
NextProtP35221 [Medical]
GENETestsCTNNA1
Target ValidationCTNNA1
Huge Navigator CTNNA1 [HugePedia]
ClinGenCTNNA1
Clinical trials, drugs, therapy
MyCancerGenomeCTNNA1
Protein Interactions : CTDCTNNA1
Pharm GKB GenePA27008
PharosP35221
Clinical trialCTNNA1
Miscellaneous
canSAR (ICR)CTNNA1
HarmonizomeCTNNA1
ARCHS4CTNNA1
DataMed IndexCTNNA1
Probes
Litterature
PubMed237 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCTNNA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:29:24 CET 2022
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