ENSG00000044115


Homo sapiens

Features
Gene ID: ENSG00000044115
  
Biological name :CTNNA1
  
Synonyms : catenin alpha 1 / CTNNA1 / P35221
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q31.2
Gene start: 138610967
Gene end: 138935034
  
Corresponding Affymetrix probe sets: 1558214_s_at (Human Genome U133 Plus 2.0 Array)   200764_s_at (Human Genome U133 Plus 2.0 Array)   200765_x_at (Human Genome U133 Plus 2.0 Array)   210844_x_at (Human Genome U133 Plus 2.0 Array)   215883_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000428439
Ensembl peptide - ENSP00000428202
Ensembl peptide - ENSP00000428686
Ensembl peptide - ENSP00000486200
Ensembl peptide - ENSP00000482738
Ensembl peptide - ENSP00000438476
Ensembl peptide - ENSP00000431118
Ensembl peptide - ENSP00000431033
Ensembl peptide - ENSP00000430981
Ensembl peptide - ENSP00000430841
Ensembl peptide - ENSP00000430671
Ensembl peptide - ENSP00000430626
Ensembl peptide - ENSP00000430623
Ensembl peptide - ENSP00000430379
Ensembl peptide - ENSP00000430304
Ensembl peptide - ENSP00000430240
Ensembl peptide - ENSP00000430177
Ensembl peptide - ENSP00000430078
Ensembl peptide - ENSP00000430076
Ensembl peptide - ENSP00000429738
Ensembl peptide - ENSP00000429636
Ensembl peptide - ENSP00000429569
Ensembl peptide - ENSP00000429457
Ensembl peptide - ENSP00000429142
Ensembl peptide - ENSP00000429103
Ensembl peptide - ENSP00000428894
Ensembl peptide - ENSP00000428710
Ensembl peptide - ENSP00000304669
Ensembl peptide - ENSP00000427821
Ensembl peptide - ENSP00000428044
Ensembl peptide - ENSP00000428049
Ensembl peptide - ENSP00000428088
NCBI entrez gene - 1495     See in Manteia.
OMIM - 116805
RefSeq - NM_001324001
RefSeq - NM_001290307
RefSeq - NM_001290309
RefSeq - NM_001290310
RefSeq - NM_001290312
RefSeq - NM_001323982
RefSeq - NM_001323983
RefSeq - NM_001323984
RefSeq - NM_001323985
RefSeq - NM_001323986
RefSeq - NM_001323987
RefSeq - NM_001323988
RefSeq - NM_001323989
RefSeq - NM_001323990
RefSeq - NM_001323991
RefSeq - NM_001323992
RefSeq - NM_001323993
RefSeq - NM_001323994
RefSeq - NM_001323995
RefSeq - NM_001323996
RefSeq - NM_001323997
RefSeq - NM_001323998
RefSeq - NM_001323999
RefSeq - NM_001324000
RefSeq - NM_001324002
RefSeq - NM_001324003
RefSeq - NM_001324004
RefSeq - NM_001324005
RefSeq - NM_001324006
RefSeq - NM_001324007
RefSeq - NM_001324008
RefSeq - NM_001324009
RefSeq - NM_001324010
RefSeq - NM_001324011
RefSeq - NM_001324012
RefSeq - NM_001324013
RefSeq - NM_001903
RefSeq Peptide - NP_001310933
RefSeq Peptide - NP_001310919
RefSeq Peptide - NP_001310920
RefSeq Peptide - NP_001310921
RefSeq Peptide - NP_001310922
RefSeq Peptide - NP_001310923
RefSeq Peptide - NP_001310924
RefSeq Peptide - NP_001310925
RefSeq Peptide - NP_001310926
RefSeq Peptide - NP_001310927
RefSeq Peptide - NP_001310928
RefSeq Peptide - NP_001310929
RefSeq Peptide - NP_001310930
RefSeq Peptide - NP_001310931
RefSeq Peptide - NP_001310932
RefSeq Peptide - NP_001310918
RefSeq Peptide - NP_001310934
RefSeq Peptide - NP_001310935
RefSeq Peptide - NP_001310936
RefSeq Peptide - NP_001310937
RefSeq Peptide - NP_001310938
RefSeq Peptide - NP_001310939
RefSeq Peptide - NP_001310940
RefSeq Peptide - NP_001310941
RefSeq Peptide - NP_001310942
RefSeq Peptide - NP_001894
RefSeq Peptide - NP_001277236
RefSeq Peptide - NP_001277238
RefSeq Peptide - NP_001277239
RefSeq Peptide - NP_001277241
RefSeq Peptide - NP_001310911
RefSeq Peptide - NP_001310912
RefSeq Peptide - NP_001310913
RefSeq Peptide - NP_001310914
RefSeq Peptide - NP_001310915
RefSeq Peptide - NP_001310916
RefSeq Peptide - NP_001310917
swissprot - E5RIE0
swissprot - E5RIB1
swissprot - E5RHY5
swissprot - E5RHV7
swissprot - E5RHR7
swissprot - E5RHJ5
swissprot - A0A087WZL6
swissprot - E5RGY7
swissprot - E5RGY6
swissprot - E5RGU3
swissprot - E5RGS1
swissprot - E5RGG4
swissprot - E5RGD2
swissprot - E5RG03
swissprot - E5RFM5
swissprot - E5RFM3
swissprot - E5RFK9
swissprot - E5RFG3
swissprot - G3XAM7
swissprot - P35221
swissprot - H0YB54
swissprot - H0YBB8
swissprot - E5RJZ2
swissprot - E5RJP7
swissprot - E5RJL0
swissprot - E5RJC9
swissprot - E5RJ43
swissprot - E5RJ41
swissprot - E5RIT8
Ensembl - ENSG00000044115
  
Related genetic diseases (OMIM): 608970 - Macular dystrophy, patterned, 2, 608970
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ctnna1ENSDARG00000102441Danio rerio
 CTNNA1ENSGALG00000002447Gallus gallus
 Ctnna1ENSMUSG00000037815Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CTNNA2 / P26232 / catenin alpha 2ENSG0000006603282
CTNNA3 / Q9UI47 / catenin alpha 3ENSG0000018323059
VCL / P18206 / vinculinENSG0000003540323
Q9UBT7 / CTNNAL1 / catenin alpha like 1ENSG0000011932621


Protein motifs (from Interpro)
Interpro ID Name
 IPR000633  Vinculin, conserved site
 IPR001033  Alpha-catenin
 IPR006077  Vinculin/alpha-catenin
 IPR030047  Alpha E-catenin
 IPR036723  Alpha-catenin/vinculin-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001541 ovarian follicle development IEA
 biological_processGO:0007015 actin filament organization IEA
 biological_processGO:0007155 cell adhesion NAS
 biological_processGO:0007163 establishment or maintenance of cell polarity IEA
 biological_processGO:0007406 negative regulation of neuroblast proliferation IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0016264 gap junction assembly IEA
 biological_processGO:0031103 axon regeneration IEA
 biological_processGO:0034332 adherens junction organization TAS
 biological_processGO:0034613 cellular protein localization IEA
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043297 apical junction assembly NAS
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0045880 positive regulation of smoothened signaling pathway IEA
 biological_processGO:0051149 positive regulation of muscle cell differentiation TAS
 biological_processGO:0051291 protein heterooligomerization IEA
 biological_processGO:0071681 cellular response to indole-3-methanol IDA
 biological_processGO:0090136 epithelial cell-cell adhesion IEA
 biological_processGO:2000146 negative regulation of cell motility IEA
 biological_processGO:2001045 negative regulation of integrin-mediated signaling pathway IEA
 biological_processGO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
 biological_processGO:2001241 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
 cellular_componentGO:0001669 acrosomal vesicle IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0005912 adherens junction IEA
 cellular_componentGO:0005913 cell-cell adherens junction IEA
 cellular_componentGO:0005915 zonula adherens IEA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0014704 intercalated disc IEA
 cellular_componentGO:0015629 actin cytoskeleton IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016342 catenin complex IDA
 cellular_componentGO:0016600 flotillin complex IEA
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding IPI
 molecular_functionGO:0017166 vinculin binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0045295 gamma-catenin binding IPI
 molecular_functionGO:0045296 cadherin binding IPI
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
CDO in myogenesis
Adherens junctions interactions
VEGFR2 mediated vascular permeability
RHO GTPases activate IQGAPs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000188130 MAPK12 / P53778 / mitogen-activated protein kinase 12  / complex / reaction
 ENSG00000112062 MAPK14 / Q16539 / mitogen-activated protein kinase 14  / complex / reaction
 ENSG00000077264 PAK3 / O75914 / p21 (RAC1) activated kinase 3  / reaction
 ENSG00000039068 CDH1 / P12830 / cadherin 1  / complex
 ENSG00000064309 CDON / Q4KMG0 / cell adhesion associated, oncogene regulated  / complex / reaction
 ENSG00000149269 PAK1 / Q13153 / p21 (RAC1) activated kinase 1  / reaction
 ENSG00000008294 SPAG9 / O60271 / sperm associated antigen 9  / complex / reaction
 ENSG00000129910 CDH15 / P55291 / cadherin 15  / complex
 ENSG00000170558 CDH2 / P19022 / cadherin 2  / complex
 ENSG00000044115 CTNNA1 / P35221 / catenin alpha 1  / complex
 ENSG00000140575 IQGAP1 / P46940 / IQ motif containing GTPase activating protein 1  / complex / reaction
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / complex / reaction
 ENSG00000066032 CTNNA2 / P26232 / catenin alpha 2  / complex
 ENSG00000168036 CTNNB1 / P35222 / catenin beta 1  / complex
 ENSG00000140299 BNIP2 / Q12982 / BCL2 interacting protein 2  / complex / reaction
 ENSG00000133895 MEN1 / O00255 / menin 1  / complex / reaction
 ENSG00000173801 JUP / P14923 / junction plakoglobin  / complex / reaction
 ENSG00000144857 BOC / Q9BWV1 / BOC cell adhesion associated, oncogene regulated  / complex / reaction
 ENSG00000179776 CDH5 / P33151 / cadherin 5  / complex
 ENSG00000097007 ABL1 / P00519 / ABL proto-oncogene 1, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000180370 PAK2 / Q13177 / p21 (RAC1) activated kinase 2  / reaction
 ENSG00000185386 MAPK11 / Q15759 / mitogen-activated protein kinase 11  / complex / reaction
 ENSG00000198561 CTNND1 / O60716 / catenin delta 1  / complex / reaction






 

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