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Q9UI47

- CTNA3_HUMAN

UniProt

Q9UI47 - CTNA3_HUMAN

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Protein

Catenin alpha-3

Gene

CTNNA3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. cadherin binding Source: UniProtKB
  2. structural molecule activity Source: InterPro

GO - Biological processi

  1. single organismal cell-cell adhesion Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell 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
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:2511. CTNNA3.

Subcellular locationi

Cytoplasmcytoskeleton Curated
Note: Localizes to intercalated disks of cardiomyocytes and in peritubular myoid cells of testis, and colocalizes with CTNNA1 and CTNNA2.1 Publication

GO - Cellular componenti

  1. actin cytoskeleton Source: InterPro
  2. cytoplasm Source: UniProtKB-KW
  3. fascia adherens Source: UniProtKB
  4. lamellipodium Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13) [MIM:615616]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941V → D in ARVD13. 1 Publication
VAR_070998

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi615616. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 895895Catenin alpha-3PRO_0000064266Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei637 – 6371Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9UI47.
PRIDEiQ9UI47.

PTM databases

PhosphoSiteiQ9UI47.

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

BgeeiQ9UI47.
CleanExiHS_CTNNA3.
ExpressionAtlasiQ9UI47. baseline and differential.
GenevestigatoriQ9UI47.

Organism-specific databases

HPAiHPA017977.

Interactioni

Subunit structurei

Interacts with CTNNB1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
gagP045912EBI-3937546,EBI-6179727From a different organism.

Protein-protein interaction databases

BioGridi118885. 7 interactions.
IntActiQ9UI47. 3 interactions.
STRINGi9606.ENSP00000362849.

Structurei

3D structure databases

ProteinModelPortaliQ9UI47.
SMRiQ9UI47. Positions 17-867.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili74 – 11138Sequence AnalysisAdd
BLAST
Coiled coili325 – 37955Sequence AnalysisAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG240050.
GeneTreeiENSGT00550000074411.
HOGENOMiHOG000280724.
HOVERGENiHBG000069.
InParanoidiQ9UI47.
KOiK05691.
OMAiAFKRQQD.
OrthoDBiEOG7HQN7B.
PhylomeDBiQ9UI47.
TreeFamiTF313686.

Family and domain databases

InterProiIPR001033. Alpha_catenin.
IPR006077. Vinculin/catenin.
[Graphical view]
PANTHERiPTHR18914. PTHR18914. 1 hit.
PfamiPF01044. Vinculin. 2 hits.
[Graphical view]
PRINTSiPR00805. ALPHACATENIN.
SUPFAMiSSF47220. SSF47220. 4 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti160 – 1601S → T(PubMed:11590244)Curated
Sequence conflicti160 – 1601S → T(PubMed:12596047)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941V → D in ARVD13. 1 Publication
VAR_070998
Natural varianti535 – 5351R → C.
Corresponds to variant rs41274090 [ dbSNP | Ensembl ].
VAR_062093
Natural varianti596 – 5961S → N.
Corresponds to variant rs4548513 [ dbSNP | Ensembl ].
VAR_053369

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei511 – 5166ESHILE → GMFLFF in isoform 2. 1 PublicationVSP_051852
Alternative sequencei517 – 895379Missing in isoform 2. 1 PublicationVSP_051853Add
BLAST

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.2. human. [Q9UI47-1]
uc001jmx.4. human. [Q9UI47-2]

Polymorphism databases

DMDMi78099215.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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 .
CCDSi CCDS7269.1. [Q9UI47-1 ]
RefSeqi NP_001120856.1. NM_001127384.2. [Q9UI47-1 ]
NP_037398.2. NM_013266.3. [Q9UI47-1 ]
UniGenei Hs.21375.
Hs.660362.

3D structure databases

ProteinModelPortali Q9UI47.
SMRi Q9UI47. Positions 17-867.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118885. 7 interactions.
IntActi Q9UI47. 3 interactions.
STRINGi 9606.ENSP00000362849.

PTM databases

PhosphoSitei Q9UI47.

Polymorphism databases

DMDMi 78099215.

Proteomic databases

PaxDbi Q9UI47.
PRIDEi Q9UI47.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000433211 ; ENSP00000389714 ; ENSG00000183230 . [Q9UI47-1 ]
GeneIDi 29119.
KEGGi hsa:29119.
UCSCi uc001jmw.2. human. [Q9UI47-1 ]
uc001jmx.4. human. [Q9UI47-2 ]

Organism-specific databases

CTDi 29119.
GeneCardsi GC10M067679.
H-InvDB HIX0017706.
HGNCi HGNC:2511. CTNNA3.
HPAi HPA017977.
MIMi 607667. gene.
615616. phenotype.
neXtProti NX_Q9UI47.
Orphaneti 293899. 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.
PharmGKBi PA27010.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG240050.
GeneTreei ENSGT00550000074411.
HOGENOMi HOG000280724.
HOVERGENi HBG000069.
InParanoidi Q9UI47.
KOi K05691.
OMAi AFKRQQD.
OrthoDBi EOG7HQN7B.
PhylomeDBi Q9UI47.
TreeFami TF313686.

Miscellaneous databases

ChiTaRSi CTNNA3. human.
GenomeRNAii 29119.
NextBioi 52211.
PROi Q9UI47.
SOURCEi Search...

Gene expression databases

Bgeei Q9UI47.
CleanExi HS_CTNNA3.
ExpressionAtlasi Q9UI47. baseline and differential.
Genevestigatori Q9UI47.

Family and domain databases

InterProi IPR001033. Alpha_catenin.
IPR006077. Vinculin/catenin.
[Graphical view ]
PANTHERi PTHR18914. PTHR18914. 1 hit.
Pfami PF01044. Vinculin. 2 hits.
[Graphical view ]
PRINTSi PR00805. ALPHACATENIN.
SUPFAMi SSF47220. SSF47220. 4 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "AlphaT-catenin: a novel tissue-specific beta-catenin-binding protein mediating strong cell-cell adhesion."
    Janssens B., Goossens S., Staes K., Gilbert B., van Hengel J., Colpaert C., Bruyneel E., Mareel M., van Roy F.
    J. Cell Sci. 114:3177-3188(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH CTNNB1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Testis1 Publication.
  2. "Assessment of the CTNNA3 gene encoding human alpha T-catenin regarding its involvement in dilated cardiomyopathy."
    Janssens B., Mohapatra B., Vatta M., Goossens S., Vanpoucke G., Kools P., Montoye T., van Hengel J., Bowles N.E., van Roy F., Towbin J.A.
    Hum. Genet. 112:227-236(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  3. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: PNSImported.
  5. "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
    Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
    Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-637, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  6. Cited for: VARIANT ARVD13 ASP-94.

Entry informationi

Entry nameiCTNA3_HUMAN
AccessioniPrimary (citable) accession number: Q9UI47
Secondary accession number(s): Q5VSR2, Q6P056
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: October 25, 2005
Last modified: October 29, 2014
This is version 107 of the entry and version 2 of the sequence. [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

External Data

Dasty 3