Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1495
Gene name Gene Name - the full gene name approved by the HGNC.
Catenin alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTNNA1
Synonyms (NCBI Gene) Gene synonyms aliases
CAP102, MDBS2, MDPT2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MDPT2
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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, 15657067, 16212417, 17098867, 17620599, 18093941, 19016843, 20936779, 22750944, 23292143, 24189400, 24509793, 25241761, 25764135, 26496610, 28051089
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
116805 2509 ENSG00000044115
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Macular dystrophy patterned macular dystrophy, patterned macular dystrophy 2 GenCC
Colorectal Cancer hereditary nonpolyposis colon cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GenCC, CBGDA
Gout Gout GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
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