CTNNA1 (catenin alpha 1)

2003-02-01  

Identity

HGNC
CTNNA1
LOCATION
5q31.2
LOCUSID
1495
ALIAS
CAP102,MDPT2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000044115ENST00000302763P35221
ENSG00000044115ENST00000302763A0A384MDY0
ENSG00000044115ENST00000517533E5RJP7
ENSG00000044115ENST00000517656E5RGG4
ENSG00000044115ENST00000517980E5RIE0
ENSG00000044115ENST00000518381E5RHJ5
ENSG00000044115ENST00000518825G3XAM7
ENSG00000044115ENST00000518910E5RJ41
ENSG00000044115ENST00000519113E5RGY6
ENSG00000044115ENST00000519116E5RFG3
ENSG00000044115ENST00000519309E5RIT8
ENSG00000044115ENST00000519634E5RGS1
ENSG00000044115ENST00000519768E5RJC9
ENSG00000044115ENST00000520158E5RIB1
ENSG00000044115ENST00000520260E5RHY5
ENSG00000044115ENST00000520339E5RJL0
ENSG00000044115ENST00000520520E5RGY7
ENSG00000044115ENST00000520522E5RGS1
ENSG00000044115ENST00000520865E5RHR7
ENSG00000044115ENST00000521368H0YB54
ENSG00000044115ENST00000521640E5RJ43
ENSG00000044115ENST00000521683E5RGU3
ENSG00000044115ENST00000521724E5RJZ2
ENSG00000044115ENST00000522013E5RFK9
ENSG00000044115ENST00000522052A0A087WZL6
ENSG00000044115ENST00000522227E5RHV7
ENSG00000044115ENST00000523275H0YBB8
ENSG00000044115ENST00000523298E5RFM5
ENSG00000044115ENST00000523685E5RGD2
ENSG00000044115ENST00000523912E5RG03
ENSG00000044115ENST00000524127E5RFM3
ENSG00000044115ENST00000540387P35221
ENSG00000044115ENST00000627109G3XAM7

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Adherens junctionKEGGko04520
Leukocyte transendothelial migrationKEGGko04670
Endometrial cancerKEGGko05213
Adherens junctionKEGGhsa04520
Leukocyte transendothelial migrationKEGGhsa04670
Pathways in cancerKEGGhsa05200
Endometrial cancerKEGGhsa05213
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated vascular permeabilityREACTOMER-HSA-5218920
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases activate IQGAPsREACTOMER-HSA-5626467
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Cell-cell junction organizationREACTOMER-HSA-421270
Adherens junctions interactionsREACTOMER-HSA-418990
Developmental BiologyREACTOMER-HSA-1266738
MyogenesisREACTOMER-HSA-525793
CDO in myogenesisREACTOMER-HSA-375170

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
369283882023Distinct inter-domain interactions of dimeric versus monomeric α-catenin link cell junctions to filaments.3
369283882023Distinct inter-domain interactions of dimeric versus monomeric α-catenin link cell junctions to filaments.3
359889632022Familial and hereditary gastric cancer, an overview.9
360382582022First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.7
359889632022Familial and hereditary gastric cancer, an overview.9
360382582022First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.7
331373512021Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.6
333782182021Suppression of α-catenin and adherens junctions enhances epithelial cell proliferation and motility via TACE-mediated TGF-α autocrine/paracrine signaling.6
334973682021Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.26
344252422021Cancer predisposition and germline CTNNA1 variants.14
331373512021Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.6
333782182021Suppression of α-catenin and adherens junctions enhances epithelial cell proliferation and motility via TACE-mediated TGF-α autocrine/paracrine signaling.6
334973682021Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.26
344252422021Cancer predisposition and germline CTNNA1 variants.14
320516092020Loss-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/deep-insight-explorer/css/js/web-card-_common.js