CTNNA1 (catenin alpha 1)

2003-02-01 Affiliation

Identity

HGNC

CTNNA1

LOCATION

5q31.2

LOCUSID

1495

ALIAS

CAP102,MDPT2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1495
MIM: 116805
HGNC: 2509
Ensembl: ENSG00000044115

Variants:

dbSNP: 1495
ClinVar: 1495
TCGA: ENSG00000044115
COSMIC: CTNNA1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000044115	ENST00000302763	P35221
ENSG00000044115	ENST00000302763	A0A384MDY0
ENSG00000044115	ENST00000517533	E5RJP7
ENSG00000044115	ENST00000517656	E5RGG4
ENSG00000044115	ENST00000517980	E5RIE0
ENSG00000044115	ENST00000518381	E5RHJ5
ENSG00000044115	ENST00000518825	G3XAM7
ENSG00000044115	ENST00000518910	E5RJ41
ENSG00000044115	ENST00000519113	E5RGY6
ENSG00000044115	ENST00000519116	E5RFG3
ENSG00000044115	ENST00000519309	E5RIT8
ENSG00000044115	ENST00000519634	E5RGS1
ENSG00000044115	ENST00000519768	E5RJC9
ENSG00000044115	ENST00000520158	E5RIB1
ENSG00000044115	ENST00000520260	E5RHY5
ENSG00000044115	ENST00000520339	E5RJL0
ENSG00000044115	ENST00000520520	E5RGY7
ENSG00000044115	ENST00000520522	E5RGS1
ENSG00000044115	ENST00000520865	E5RHR7
ENSG00000044115	ENST00000521368	H0YB54
ENSG00000044115	ENST00000521640	E5RJ43
ENSG00000044115	ENST00000521683	E5RGU3
ENSG00000044115	ENST00000521724	E5RJZ2
ENSG00000044115	ENST00000522013	E5RFK9
ENSG00000044115	ENST00000522052	A0A087WZL6
ENSG00000044115	ENST00000522227	E5RHV7
ENSG00000044115	ENST00000523275	H0YBB8
ENSG00000044115	ENST00000523298	E5RFM5
ENSG00000044115	ENST00000523685	E5RGD2
ENSG00000044115	ENST00000523912	E5RG03
ENSG00000044115	ENST00000524127	E5RFM3
ENSG00000044115	ENST00000540387	P35221
ENSG00000044115	ENST00000627109	G3XAM7

Expression (GTEx)

100

150

200

250

300

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Adherens junction	KEGG	ko04520
Leukocyte transendothelial migration	KEGG	ko04670
Endometrial cancer	KEGG	ko05213
Adherens junction	KEGG	hsa04520
Leukocyte transendothelial migration	KEGG	hsa04670
Pathways in cancer	KEGG	hsa05200
Endometrial cancer	KEGG	hsa05213
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	ko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	hsa05412
Bacterial invasion of epithelial cells	KEGG	ko05100
Bacterial invasion of epithelial cells	KEGG	hsa05100
Hippo signaling pathway	KEGG	hsa04390
Hippo signaling pathway	KEGG	ko04390
Signal Transduction	REACTOME	R-HSA-162582
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated vascular permeability	REACTOME	R-HSA-5218920
Signaling by Rho GTPases	REACTOME	R-HSA-194315
RHO GTPase Effectors	REACTOME	R-HSA-195258
RHO GTPases activate IQGAPs	REACTOME	R-HSA-5626467
Cell-Cell communication	REACTOME	R-HSA-1500931
Cell junction organization	REACTOME	R-HSA-446728
Cell-cell junction organization	REACTOME	R-HSA-421270
Adherens junctions interactions	REACTOME	R-HSA-418990
Developmental Biology	REACTOME	R-HSA-1266738
Myogenesis	REACTOME	R-HSA-525793
CDO in myogenesis	REACTOME	R-HSA-375170

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36928388	2023	Distinct inter-domain interactions of dimeric versus monomeric α-catenin link cell junctions to filaments.	3
36928388	2023	Distinct inter-domain interactions of dimeric versus monomeric α-catenin link cell junctions to filaments.	3
35988963	2022	Familial and hereditary gastric cancer, an overview.	9
36038258	2022	First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.	7
35988963	2022	Familial and hereditary gastric cancer, an overview.	9
36038258	2022	First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.	7
33137351	2021	Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.	6
33378218	2021	Suppression of α-catenin and adherens junctions enhances epithelial cell proliferation and motility via TACE-mediated TGF-α autocrine/paracrine signaling.	6
33497368	2021	Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.	26
34425242	2021	Cancer predisposition and germline CTNNA1 variants.	14
33137351	2021	Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.	6
33378218	2021	Suppression of α-catenin and adherens junctions enhances epithelial cell proliferation and motility via TACE-mediated TGF-α autocrine/paracrine signaling.	6
33497368	2021	Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.	26
34425242	2021	Cancer predisposition and germline CTNNA1 variants.	14
32051609	2020	Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.	21

Citation

Dessen P

CTNNA1 (catenin alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/366/ctnna1-(catenin-alpha-1)