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CTNNA1 catenin alpha 1 [ Homo sapiens (human) ]

Gene ID: 1495, updated on 5-Dec-2021

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
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
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Genomic context

See CTNNA1 in Genome Data Viewer
Location:
5q31.2
Exon count:
27
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (138753425..138935034)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138089114..138270723)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L10a pseudogene 10 Neighboring gene Sharpr-MPRA regulatory region 9755 Neighboring gene CTNNA1 antisense RNA 1 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Macular dystrophy, patterned, 2
MedGen: C1837029 OMIM: 608970 GeneReviews: Not available
Compare labs

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 PubChem

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
enables RNA binding HDA PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables beta-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cadherin binding HDA PubMed 
enables cadherin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables gamma-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
enables vinculin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IEA
Inferred from Electronic Annotation
more info
 
involved_in aging IEA
Inferred from Electronic Annotation
more info
 
involved_in apical junction assembly NAS
Non-traceable Author Statement
more info
PubMed 
involved_in axon regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular protein localization IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to indole-3-methanol IDA
Inferred from Direct Assay
more info
PubMed 
involved_in epithelial cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment or maintenance of cell polarity IEA
Inferred from Electronic Annotation
more info
 
involved_in gap junction assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in male gonad development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell motility IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of integrin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of protein localization to nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
involved_in ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in response to estrogen IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of catenin complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of flotillin complex IEA
Inferred from Electronic Annotation
more info
 
located_in focal adhesion HDA PubMed 
located_in intercalated disc IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in 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
epididymis secretory sperm binding protein
renal carcinoma antigen NY-REN-13

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    5030..186639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290307.3NP_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, 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_001290309.3NP_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, DC369291
    UniProtKB/Swiss-Prot
    P35221
    UniProtKB/TrEMBL
    B4DKT9, B4DU00
    Conserved Domains (1) summary
    pfam01044
    Location:1764
    Vinculin; Vinculin family
  3. NM_001290310.3NP_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
    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_001323982.2NP_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_001323984.2NP_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_001323985.2NP_001310914.1  catenin alpha-1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC011405, AC034243
  9. NM_001323986.2NP_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_001903.5NP_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, DC369291
    Consensus CDS
    CCDS34243.1
    UniProtKB/Swiss-Prot
    P35221
    Related
    ENSP00000304669.7, ENST00000302763.12
    Conserved Domains (1) summary
    pfam01044
    Location:82867
    Vinculin; Vinculin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    138753425..138935034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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