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Protein

Catenin alpha-3

Gene

CTNNA3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May be involved in formation of stretch-resistant cell-cell adhesion complexes.1 Publication

GO - Molecular functioni

  • actin filament binding Source: InterPro
  • beta-catenin binding Source: BHF-UCL
  • cadherin binding Source: UniProtKB

GO - Biological processi

  • bundle of His cell-Purkinje myocyte adhesion involved in cell communication Source: BHF-UCL
  • cell-cell adhesion Source: UniProtKB
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL

Keywordsi

Biological processCell adhesion

Names & Taxonomyi

Protein namesi
Recommended name:
Catenin alpha-3
Alternative name(s):
Alpha T-catenin
Cadherin-associated protein
Gene namesi
Name:CTNNA3Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000183230.16
HGNCiHGNC:2511 CTNNA3
MIMi607667 gene
neXtProtiNX_Q9UI47

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
See also OMIM:615616
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07099894V → D in ARVD13. 1 PublicationCorresponds to variant dbSNP:rs587777134EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi29119
MalaCardsiCTNNA3
MIMi615616 phenotype
OpenTargetsiENSG00000183230
Orphaneti293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
PharmGKBiPA27010

Polymorphism and mutation databases

BioMutaiCTNNA3
DMDMi78099215

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000642661 – 895Catenin alpha-3Add BLAST895

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei56PhosphoserineCombined sources1
Modified residuei160PhosphoserineBy similarity1
Modified residuei637PhosphoserineCombined sources1
Modified residuei647PhosphoserineBy similarity1
Modified residuei649PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UI47
PaxDbiQ9UI47
PeptideAtlasiQ9UI47
PRIDEiQ9UI47
ProteomicsDBi84475
84476 [Q9UI47-2]

PTM databases

iPTMnetiQ9UI47
PhosphoSitePlusiQ9UI47
SwissPalmiQ9UI47

Expressioni

Tissue specificityi

Predominantly expressed in heart and testis. Expressed at lower levels in brain, kidney, liver and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000183230
CleanExiHS_CTNNA3
ExpressionAtlasiQ9UI47 baseline and differential
GenevisibleiQ9UI47 HS

Organism-specific databases

HPAiHPA061818

Interactioni

Subunit structurei

Interacts with CTNNB1.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • actin filament binding Source: InterPro
  • beta-catenin binding Source: BHF-UCL
  • cadherin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi118885, 31 interactors
IntActiQ9UI47, 44 interactors
STRINGi9606.ENSP00000362849

Structurei

3D structure databases

ProteinModelPortaliQ9UI47
SMRiQ9UI47
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili74 – 111Sequence analysisAdd BLAST38
Coiled coili325 – 379Sequence analysisAdd BLAST55

Sequence similaritiesi

Belongs to the vinculin/alpha-catenin family.Sequence analysis

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3681 Eukaryota
ENOG410XSRU LUCA
GeneTreeiENSGT00550000074411
HOGENOMiHOG000280724
HOVERGENiHBG000069
InParanoidiQ9UI47
KOiK05691
OMAiVFDDNQF
OrthoDBiEOG091G01KR
PhylomeDBiQ9UI47
TreeFamiTF313686

Family and domain databases

InterProiView protein in InterPro
IPR036723 Alpha-catenin/vinculin-like_sf
IPR001033 Alpha_catenin
IPR030044 CTNNA3
IPR006077 Vinculin/catenin
PANTHERiPTHR18914 PTHR18914, 1 hit
PTHR18914:SF21 PTHR18914:SF21, 1 hit
PfamiView protein in Pfam
PF01044 Vinculin, 2 hits
PRINTSiPR00805 ALPHACATENIN
SUPFAMiSSF47220 SSF47220, 4 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 11 Publication (identifier: Q9UI47-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSAETPITLN IDPQDLQVQT FTVEKLLEPL IIQVTTLVNC PQNPSSRKKG
60 70 80 90 100
RSKRASVLLA SVEEATWNLL DKGEKIAQEA TVLKDELTAS LEEVRKESEA
110 120 130 140 150
LKVSAERFTD DPCFLPKREA VVQAARALLA AVTRLLILAD MIDVMCLLQH
160 170 180 190 200
VSAFQRTFES LKNVANKSDL QKTYQKLGKE LENLDYLAFK RQQDLKSPNQ
210 220 230 240 250
RDEIAGARAS LKENSPLLHS ICSACLEHSD VASLKASKDT VCEEIQNALN
260 270 280 290 300
VISNASQGIQ NMTTPPEPQA ATLGSALDEL ENLIVLNPLT VTEEEIRPSL
310 320 330 340 350
EKRLEAIISG AALLADSSCT RDLHRERIIA ECNAIRQALQ DLLSEYMNNA
360 370 380 390 400
GKKERSNTLN IALDNMCKKT RDLRRQLRKA IIDHVSDSFL DTTVPLLVLI
410 420 430 440 450
EAAKNGREKE IKEYAAIFHE HTSRLVEVAN LACSMSTNED GIKIVKIAAN
460 470 480 490 500
HLETLCPQII NAALALAARP KSQAVKNTME MYKRTWENHI HVLTEAVDDI
510 520 530 540 550
TSIDDFLAVS ESHILEDVNK CIIALRDQDA DNLDRAAGAI RGRAARVAHI
560 570 580 590 600
VTGEMDSYEP GAYTEGVMRN VNFLTSTVIP EFVTQVNVAL EALSKSSLNV
610 620 630 640 650
LDDNQFVDIS KKIYDTIHDI RCSVMMIRTP EELEDVSDLE EEHEVRSHTS
660 670 680 690 700
IQTEGKTDRA KMTQLPEAEK EKIAEQVADF KKVKSKLDAE IEIWDDTSND
710 720 730 740 750
IIVLAKNMCM IMMEMTDFTR GKGPLKHTTD VIYAAKMISE SGSRMDVLAR
760 770 780 790 800
QIANQCPDPS CKQDLLAYLE QIKFYSHQLK ICSQVKAEIQ NLGGELIMSA
810 820 830 840 850
LDSVTSLIQA AKNLMNAVVQ TVKMSYIAST KIIRIQSPAG PRHPVVMWRM
860 870 880 890
KAPAKKPLIK REKPEETCAA VRRGSAKKKI HPLQVMSEFR GRQIY
Length:895
Mass (Da):99,809
Last modified:October 25, 2005 - v2
Checksum:i269E6DFB4956BDFE
GO
Isoform 2Curated (identifier: Q9UI47-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     511-516: ESHILE → GMFLFF
     517-895: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:516
Mass (Da):57,332
Checksum:iBC464A5D36E85839
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti160S → T (PubMed:11590244).Curated1
Sequence conflicti160S → T (PubMed:12596047).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07099894V → D in ARVD13. 1 PublicationCorresponds to variant dbSNP:rs587777134EnsemblClinVar.1
Natural variantiVAR_062093535R → C. Corresponds to variant dbSNP:rs41274090EnsemblClinVar.1
Natural variantiVAR_053369596S → N. Corresponds to variant dbSNP:rs4548513Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_051852511 – 516ESHILE → GMFLFF in isoform 2. 1 Publication6
Alternative sequenceiVSP_051853517 – 895Missing in isoform 2. 1 PublicationAdd BLAST379

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF091606 mRNA Translation: AAF21801.1
AF282692
, AF282679, AF282680, AF282681, AF282683, AF282685, AF282689, AF391793, AF282686, AF282688, AF282690, AF282691, AF391792, AF391794, AF282687, AF282682, AF282684 Genomic DNA Translation: AAQ14328.1
AL607022
, AC016819, AC018979, AC020642, AC022017, AC022401, AC026394, AL607023, AL731538, AL731549 Genomic DNA Translation: CAI13390.1
AL607023
, AC018979, AC020642, AC016819, AC022017, AC022401, AC026394, AL607022, AL731538, AL731549 Genomic DNA Translation: CAI16316.1
AL731538
, AC016819, AC018979, AC020642, AC022017, AC022401, AC026394, AL607022, AL607023, AL731549 Genomic DNA Translation: CAH73988.1
AL731549
, AC016819, AC018979, AC020642, AC022401, AL607022, AL731538, AL607023, AC026394, AC022017 Genomic DNA Translation: CAH70164.1
BC065819 mRNA Translation: AAH65819.1
CCDSiCCDS7269.1 [Q9UI47-1]
RefSeqiNP_001120856.1, NM_001127384.2 [Q9UI47-1]
NP_037398.2, NM_013266.3 [Q9UI47-1]
UniGeneiHs.21375
Hs.660362

Genome annotation databases

EnsembliENST00000433211; ENSP00000389714; ENSG00000183230 [Q9UI47-1]
GeneIDi29119
KEGGihsa:29119
UCSCiuc001jmw.3 human [Q9UI47-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCTNA3_HUMAN
AccessioniPrimary (citable) accession number: Q9UI47
Secondary accession number(s): Q5VSR2, Q6P056
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: October 25, 2005
Last modified: June 20, 2018
This is version 135 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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