Gene Gene information from NCBI Gene database.
Entrez ID 1495
Gene name Catenin alpha 1
Gene symbol CTNNA1
Synonyms (NCBI Gene)
CAP102MDBS2MDPT2
Chromosome 5
Chromosome location 5q31.2
Summary This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains th
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs755215402 T>A,C,G Pathogenic, likely-benign Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, synonymous variant
rs869312766 TGAA>- Likely-pathogenic Intron variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs869320696 T>C Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs869320697 G>A Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs1554085478 C>T Uncertain-significance, likely-pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
509
miRTarBase ID miRNA Experiments Reference
MIRT020722 hsa-miR-155-5p Proteomics 18668040
MIRT039674 hsa-miR-615-3p CLASH 23622248
MIRT039085 hsa-miR-769-3p CLASH 23622248
MIRT038473 hsa-miR-296-3p CLASH 23622248
MIRT037739 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
GO ID Ontology Definition Evidence Reference
GO:0001541 Process Ovarian follicle development IEA
GO:0001669 Component Acrosomal vesicle IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 12477722, 16212417, 17052462, 17098867, 18093941, 19016843, 20936779, 22750944, 23292143, 24509793, 25241761, 25764135, 26496610, 28051089, 33961781, 34591612, 35271311, 35512704
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116805 2509 ENSG00000044115
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35221
Protein name Catenin alpha-1 (Alpha E-catenin) (Cadherin-associated protein) (Renal carcinoma antigen NY-REN-13)
Protein function Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion
PDB 1H6G , 4EHP , 4IGG , 6UPV , 6V2O , 6V2P , 7UTJ , 9BL2 , 9BL3 , 9BL4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01044 Vinculin 19 339 Vinculin family Family
PF01044 Vinculin 333 867 Vinculin family Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Ubiquitously expressed in normal tissues. {ECO:0000269|PubMed:21708131}.; TISSUE SPECIFICITY: [Isoform 3]: Abundantly expressed in brain and cerebellum, also expressed in the placenta, liver, lung, colon, heart, pancreas,
Sequence
MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHV
LAASVEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVK
RGNMVRAARALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKAL
KPEVDKLNIMAAKRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKAN
RDLIYKQLQQAVTGISNAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEER
FRPSLEERLESIISGAALMADSSCTRDDRRER
IVAECNAVRQALQDLLSEYMGNAGRKER
SDALNSAIDKMTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYA
QVFREHANKLIEVANLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLA
QENMDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDR
TAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSS
DPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTED
DQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMC
MIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYL
QRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQTVKASYVAS
TKYQKSQGMASLNLPAVSWKMKAPEKK
PLVKREKQDETQTKIKRASQKKHVNPVQALSEF
KAMDSI
Sequence length 906
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3067
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colorectal cancer Likely pathogenic; Pathogenic rs2150336916, rs2150334022, rs2149656983, rs2149786068, rs2150359552, rs1762133912 RCV002274827
RCV002274829
RCV002274830
RCV002274831
RCV002276251
RCV001293821
Craniosynostosis syndrome Likely pathogenic rs2150359366 RCV001849682
CTNNA1-associated FEVR Likely pathogenic; Pathogenic rs1401839892 RCV002509555
CTNNA1-related disorder Pathogenic; Likely pathogenic rs2532171064, rs2533923421 RCV003946638
RCV003896791
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs78825013 RCV005919220
Adrenocortical carcinoma, hereditary Likely benign rs764934492 RCV005907191
Cervical cancer Likely benign rs777194764 RCV005902023
Cholangiocarcinoma Benign; Likely benign rs66580119, rs764185931 RCV005920375
RCV005907001
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 29327707
Arrhythmogenic Right Ventricular Dysplasia Associate 27613243
Asthma Associate 29956778
Breast Neoplasms Associate 20393555, 32051609, 36562524, 36674696
Bullous Dystrophy Hereditary Macular Type Associate 32717343
Carcinoid Tumor Associate 29327707
Carcinoma Hepatocellular Associate 24931142
Carcinoma Hepatocellular Stimulate 28258914
Carcinoma Lobular Associate 34115320
Colorectal Neoplasms Associate 27487124