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CTNNA1 catenin alpha 1 [ Homo sapiens (human) ]

Gene ID: 1495, updated on 5-Jan-2025

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; AllianceGenome:HGNC:2509
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
MDBS2; 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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138753425..138935034)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (139279620..139461169)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138089114..138270723)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137946542-137947174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137945909-137946541 Neighboring gene small nucleolar RNA U13 Neighboring gene ribosomal protein L10a pseudogene 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137976937-137977490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137977491-137978044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137986181-137986979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138001425-138001925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16402 Neighboring gene Sharpr-MPRA regulatory region 9755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23215 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:138089147-138089714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:138089715-138090281 Neighboring gene CTNNA1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138164188-138164688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138188550-138189082 Neighboring gene leucine rich repeat transmembrane neuronal 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:138279886-138280098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138284538-138285402 Neighboring gene uncharacterized LOC124901079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138289067-138290004 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:138346233-138346880 Neighboring gene SIL1 nucleotide exchange factor Neighboring gene uncharacterized LOC124901080 Neighboring gene RNA, 5S ribosomal pseudogene 194

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Patterned macular dystrophy 2
MedGen: C1837029 OMIM: 608970 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2022-10-12)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2022-10-12)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS 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 PubChem

Interactions

General gene information

Clone Names

  • FLJ36832, FLJ52416

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding PubMed 
enables actin filament binding  
enables beta-catenin binding  
enables beta-catenin binding PubMed 
enables cadherin binding PubMed 
enables cadherin binding PubMed 
enables gamma-catenin binding PubMed 
enables identical protein binding PubMed 
enables protein binding PubMed 
enables structural molecule activity  
enables vinculin binding PubMed 
Process Evidence Code Pubs
involved_in apical junction assembly PubMed 
involved_in axon regeneration  
involved_in cell adhesion PubMed 
involved_in cell migration  
involved_in cell-cell adhesion  
involved_in cellular response to indole-3-methanol PubMed 
involved_in epithelial cell-cell adhesion  
involved_in establishment or maintenance of cell polarity  
involved_in extrinsic apoptotic signaling pathway in absence of ligand  
involved_in gap junction assembly  
involved_in integrin-mediated signaling pathway  
involved_in male gonad development  
involved_in negative regulation of cell motility  
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
involved_in negative regulation of integrin-mediated signaling pathway  
involved_in negative regulation of neuroblast proliferation  
involved_in negative regulation of protein localization to nucleus  
involved_in neuroblast proliferation  
involved_in odontogenesis of dentin-containing tooth  
involved_in ovarian follicle development  
involved_in positive regulation of extrinsic apoptotic signaling pathway in absence of ligand  
involved_in positive regulation of smoothened signaling pathway  
involved_in protein localization  
involved_in response to estrogen  
involved_in smoothened signaling pathway  
Component Evidence Code Pubs
located_in acrosomal vesicle  
located_in actin cytoskeleton  
is_active_in adherens junction  
part_of catenin complex  
part_of catenin complex PubMed 
located_in cell junction  
located_in cell-cell junction PubMed 
located_in cytosol  
part_of flotillin complex  
located_in focal adhesion PubMed 
located_in intercalated disc  
located_in intracellular membrane-bounded organelle  
located_in lamellipodium  
located_in nucleus  
located_in plasma membrane  
located_in plasma membrane  
located_in zonula adherens  

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)

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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/TrEMBL
    B4E2G8, 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/TrEMBL
    B4DU00
    Conserved Domains (1) summary
    pfam01044
    Location:1764
    Vinculin; Vinculin family
  3. NM_001290310.3NP_001277239.1  catenin alpha-1 isoform 4

    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/TrEMBL
    B4DKT9, B4DU00
    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/TrEMBL
    B3KSR8
    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, Q12795, Q8N1C0
    UniProtKB/TrEMBL
    A0A384MDY0, B4E2G8
    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, Q12795, Q8N1C0
    UniProtKB/TrEMBL
    A0A384MDY0, B4E2G8
    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, Q12795, Q8N1C0
    UniProtKB/TrEMBL
    A0A384MDY0, B4E2G8
    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
    UniProtKB/TrEMBL
    B4E2G8
  9. NM_001323986.2NP_001310915.1  catenin alpha-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC011405, AC034243
    UniProtKB/TrEMBL
    B4E2G8
  10. NM_001323987.1NP_001310916.1  catenin alpha-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011405
    Consensus CDS
    CCDS75315.1
    UniProtKB/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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/TrEMBL
    B3KSR8
    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
    UniProtKB/TrEMBL
    B3KSR8
  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
    UniProtKB/TrEMBL
    B3KSR8
  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, Q12795, Q8N1C0
    UniProtKB/TrEMBL
    A0A384MDY0, B4E2G8
    Related
    ENSP00000304669.7, ENST00000302763.12
    Conserved Domains (1) summary
    pfam01044
    Location:82867
    Vinculin; Vinculin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    139279620..139461169
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351718.1XP_054207693.1  catenin alpha-1 isoform X1

    UniProtKB/TrEMBL
    B3KSR8
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