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CTNNA3 catenin alpha 3 [ Homo sapiens (human) ]

Gene ID: 29119, updated on 13-Feb-2019

Summary

Official Symbol
CTNNA3provided by HGNC
Official Full Name
catenin alpha 3provided by HGNC
Primary source
HGNC:HGNC:2511
See related
Ensembl:ENSG00000183230 MIM:607667
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VR22; ARVD13
Summary
This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Expression
Biased expression in heart (RPKM 5.0), brain (RPKM 1.3) and 5 other tissues See more
Orthologs

Genomic context

See CTNNA3 in Genome Data Viewer
Location:
10q21.3
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (65912518..67696217, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (67672276..69455949, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1515 Neighboring gene uncharacterized LOC105378338 Neighboring gene uncharacterized LOC105378339 Neighboring gene uncharacterized LOC105378340 Neighboring gene uncharacterized LOC101928961 Neighboring gene leucine rich repeat transmembrane neuronal 3 Neighboring gene ribosomal protein L7a pseudogene 51 Neighboring gene microRNA 7151 Neighboring gene Sharpr-MPRA regulatory region 10071 Neighboring gene aldo-keto reductase family 1 member B10 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Arrhythmogenic right ventricular dysplasia, familial, 13
MedGen: C3810138 OMIM: 615616 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-10-24)

ClinGen Genome Curation PagePubMed
Haploinsufficency

No evidence available (Last evaluated (2018-10-24)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
NHGRI GWA Catalog
Alpha-T-catenin (CTNNA3) gene was identified as a risk variant for toluene diisocyanate-induced asthma by genome-wide association analysis.
NHGRI GWA Catalog
Gene network analysis in a pediatric cohort identifies novel lung function genes.
NHGRI GWA Catalog
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
NHGRI GWA Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog
Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci.
NHGRI GWA Catalog
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA Catalog
Novel genes identified in a high-density genome wide association study for nicotine dependence.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 and alpha-catenin co-localize in gp160 and GST-alpha-catenin expressing cells; the leucine zipper-like domain (gp160 residues 791-824) of gp41 interacts strongly with the carboxy terminus (residues 795-906) of alpha-catenin PubMed
nucleocapsid gag HIV-1 NC is identified to have a physical interaction with catenin (cadherin-associated protein), alpha 3 (CTNNA3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adherens junction, organism-specific biosystem (from KEGG)
    Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Adherens junction, conserved biosystem (from KEGG)
    Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
    Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
    Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Endometrial cancer, organism-specific biosystem (from KEGG)
    Endometrial cancer, organism-specific biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
  • Endometrial cancer, conserved biosystem (from KEGG)
    Endometrial cancer, conserved biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
    Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
    Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26194, MGC75041

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
cadherin binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
fascia adherens IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
catenin alpha-3
Names
alpha-T-catenin
alpha-catenin-like protein
catenin (cadherin-associated protein), alpha 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034072.1 RefSeqGene

    Range
    5001..1788674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127384.2NP_001120856.1  catenin alpha-3 isoform a

    See identical proteins and their annotated locations for NP_001120856.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform a).
    Source sequence(s)
    AC018979, AK289756, AL607022, AL731538, BC030646, BX103986
    Consensus CDS
    CCDS7269.1
    UniProtKB/Swiss-Prot
    Q9UI47
    UniProtKB/TrEMBL
    A8K141, Q8WW10
    Conserved Domains (1) summary
    pfam01044
    Location:83856
    Vinculin; Vinculin family
  2. NM_001291133.1NP_001278062.1  catenin alpha-3 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs and cause translation initiation at an alternate start codon compared to variant 1. The encoded protein (isoform b) has a longer N-terminus, a distinct C-terminus, and is shorter compared to isoform a.
    Source sequence(s)
    AC022401, AC026394, AL607022, BC030646
    UniProtKB/TrEMBL
    Q8WW10
    Conserved Domains (1) summary
    pfam01044
    Location:95369
    Vinculin; Vinculin family
  3. NM_013266.4NP_037398.2  catenin alpha-3 isoform a

    See identical proteins and their annotated locations for NP_037398.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC018979, AF091606, AK313882, AL607022, BX103986
    Consensus CDS
    CCDS7269.1
    UniProtKB/Swiss-Prot
    Q9UI47
    UniProtKB/TrEMBL
    A8K141
    Related
    ENSP00000389714.1, ENST00000433211.6
    Conserved Domains (1) summary
    pfam01044
    Location:83856
    Vinculin; Vinculin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    65912518..67696217 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016152.1XP_016871641.1  catenin alpha-3 isoform X2

  2. XM_017016151.1XP_016871640.1  catenin alpha-3 isoform X1

  3. XM_017016153.1XP_016871642.1  catenin alpha-3 isoform X3

    Conserved Domains (1) summary
    pfam01044
    Location:95868
    Vinculin; Vinculin family
  4. XM_017016155.2XP_016871644.1  catenin alpha-3 isoform X4

  5. XM_017016154.1XP_016871643.1  catenin alpha-3 isoform X4

  6. XM_017016156.1XP_016871645.1  catenin alpha-3 isoform X4

  7. XM_017016157.2XP_016871646.1  catenin alpha-3 isoform X5

  8. XM_017016158.2XP_016871647.1  catenin alpha-3 isoform X6

    Conserved Domains (1) summary
    pfam01044
    Location:95369
    Vinculin; Vinculin family
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