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CTNNA1 catenin alpha 1 [ Homo sapiens (human) ]

Gene ID: 1495, updated on 12-Aug-2018

Summary

Official Symbol
CTNNA1provided by HGNC
Official Full Name
catenin alpha 1provided by HGNC
Primary source
HGNC:HGNC:2509
See related
Ensembl:ENSG00000044115 MIM:116805; Vega:OTTHUMG00000163502
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
MDPT2; CAP102
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 three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]
Expression
Ubiquitous expression in esophagus (RPKM 69.8), lung (RPKM 58.9) and 25 other tissues See more
Orthologs

Genomic context

See CTNNA1 in Genome Data Viewer
Location:
5q31.2
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (138753386..138935034)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138089075..138270723)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379193 Neighboring gene heat shock protein family A (Hsp70) member 9 Neighboring gene ribosomal protein L10a pseudogene 10 Neighboring gene uncharacterized LOC105379194 Neighboring gene leucine rich repeat transmembrane neuronal 2 Neighboring gene uncharacterized LOC105379195 Neighboring gene SIL1 nucleotide exchange factor Neighboring gene RNA, 5S ribosomal pseudogene 194

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Macular dystrophy, patterned, 2
MedGen: C1837029 OMIM: 608970 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
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

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36832, FLJ52416

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
cadherin binding HDA PubMed 
cadherin binding IPI
Inferred from Physical Interaction
more info
PubMed 
gamma-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
vinculin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IEA
Inferred from Electronic Annotation
more info
 
adherens junction organization TAS
Traceable Author Statement
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
apical junction assembly NAS
Non-traceable Author Statement
more info
PubMed 
axon regeneration IEA
Inferred from Electronic Annotation
more info
 
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cellular protein localization IEA
Inferred from Electronic Annotation
more info
 
cellular response to indole-3-methanol IDA
Inferred from Direct Assay
more info
PubMed 
epithelial cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
establishment or maintenance of cell polarity IEA
Inferred from Electronic Annotation
more info
 
gap junction assembly IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell motility IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
negative regulation of integrin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
positive regulation of muscle cell differentiation TAS
Traceable Author Statement
more info
 
positive regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
catenin complex IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
flotillin complex IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
intercalated disc IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
zonula adherens IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
catenin alpha-1
Names
alpha-E-catenin
catenin (cadherin-associated protein), alpha 1, 102kDa
renal carcinoma antigen NY-REN-13

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_047029.1 RefSeqGene

    Range
    4991..186639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290307.2NP_001277236.1  catenin alpha-1 isoform 2

    See identical proteins and their annotated locations for NP_001277236.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AI078507, BC000385, DC332608, DC369291, U03100
    Consensus CDS
    CCDS78064.1
    UniProtKB/Swiss-Prot
    P35221
    UniProtKB/TrEMBL
    G3XAM7
    Related
    ENSP00000486200.1, ENST00000627109.2
    Conserved Domains (1) summary
    pfam01044
    Location:82811
    Vinculin; Vinculin family
  2. NM_001290309.2NP_001277238.1  catenin alpha-1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' end compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (3) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AI078507, AK296708, AK300439, BC000385, DC332608, DC369291
    UniProtKB/Swiss-Prot
    P35221
    UniProtKB/TrEMBL
    B4DKT9, B4DU00
    Conserved Domains (1) summary
    pfam01044
    Location:1764
    Vinculin; Vinculin family
  3. NM_001290310.2NP_001277239.1  catenin alpha-1 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001277239.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice junction at the 3' end of an exon and another at the 5' end of the next exon compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AI078507, AK296708, BC000385, DC332608, DC369291
    UniProtKB/Swiss-Prot
    P35221
    UniProtKB/TrEMBL
    B4DKT9
    Conserved Domains (1) summary
    pfam01044
    Location:1744
    Vinculin; Vinculin family
  4. NM_001290312.1NP_001277241.1  catenin alpha-1 isoform 5

    See identical proteins and their annotated locations for NP_001277241.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in place of the first seven exons compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (5) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AI078507, BC000385, BC031262, DA349847
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Related
    ENSP00000438476.1, ENST00000540387.5
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  5. NM_001323982.1NP_001310911.1  catenin alpha-1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC011405, AC034243
    Consensus CDS
    CCDS34243.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:82867
    Vinculin; Vinculin family
  6. NM_001323983.1NP_001310912.1  catenin alpha-1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC011405, AC034243
    Consensus CDS
    CCDS34243.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:82867
    Vinculin; Vinculin family
  7. NM_001323984.1NP_001310913.1  catenin alpha-1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC011405, AC034243
    Consensus CDS
    CCDS34243.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:82867
    Vinculin; Vinculin family
  8. NM_001323985.1NP_001310914.1  catenin alpha-1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC011405, AC034243
  9. NM_001323986.1NP_001310915.1  catenin alpha-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC011405, AC034243
  10. NM_001323987.1NP_001310916.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  11. NM_001323988.1NP_001310917.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  12. NM_001323989.1NP_001310918.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  13. NM_001323990.1NP_001310919.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  14. NM_001323991.1NP_001310920.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  15. NM_001323992.1NP_001310921.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  16. NM_001323993.1NP_001310922.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  17. NM_001323994.1NP_001310923.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  18. NM_001323995.1NP_001310924.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  19. NM_001323996.1NP_001310925.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  20. NM_001323997.1NP_001310926.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  21. NM_001323998.1NP_001310927.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  22. NM_001323999.1NP_001310928.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  23. NM_001324000.1NP_001310929.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/Swiss-Prot
    P35221
    Conserved Domains (1) summary
    pfam01044
    Location:1497
    Vinculin; Vinculin family
  24. NM_001324001.1NP_001310930.1  catenin alpha-1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC011405
  25. NM_001324002.1NP_001310931.1  catenin alpha-1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC011405
  26. NM_001324003.1NP_001310932.1  catenin alpha-1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC011405
  27. NM_001324004.1NP_001310933.1  catenin alpha-1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC011405
  28. NM_001324005.1NP_001310934.1  catenin alpha-1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC011405
  29. NM_001324006.1NP_001310935.1  catenin alpha-1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Conserved Domains (1) summary
    pfam01044
    Location:1384
    Vinculin; Vinculin family
  30. NM_001324007.1NP_001310936.1  catenin alpha-1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Conserved Domains (1) summary
    pfam01044
    Location:1384
    Vinculin; Vinculin family
  31. NM_001324008.1NP_001310937.1  catenin alpha-1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Conserved Domains (1) summary
    pfam01044
    Location:1384
    Vinculin; Vinculin family
  32. NM_001324009.1NP_001310938.1  catenin alpha-1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Conserved Domains (1) summary
    pfam01044
    Location:1384
    Vinculin; Vinculin family
  33. NM_001324010.1NP_001310939.1  catenin alpha-1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Conserved Domains (1) summary
    pfam01044
    Location:1384
    Vinculin; Vinculin family
  34. NM_001324011.1NP_001310940.1  catenin alpha-1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC011405
  35. NM_001324012.1NP_001310941.1  catenin alpha-1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Conserved Domains (1) summary
    pfam01044
    Location:1416
    Vinculin; Vinculin family
  36. NM_001324013.1NP_001310942.1  catenin alpha-1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Conserved Domains (1) summary
    pfam01044
    Location:1416
    Vinculin; Vinculin family
  37. NM_001903.4NP_001894.2  catenin alpha-1 isoform 1

    See identical proteins and their annotated locations for NP_001894.2

    Status: REVIEWED

    Source sequence(s)
    AI078507, BC000385, DC332608, DC369291
    Consensus CDS
    CCDS34243.1
    UniProtKB/Swiss-Prot
    P35221
    Related
    ENSP00000304669.7, OTTHUMP00000224141, ENST00000302763.11, OTTHUMT00000373868
    Conserved Domains (1) summary
    pfam01044
    Location:82867
    Vinculin; Vinculin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    138753386..138935034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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