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Q9UI47

- CTNA3_HUMAN

UniProt

Q9UI47 - CTNA3_HUMAN

Protein

Catenin alpha-3

Gene

CTNNA3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (25 Oct 2005)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

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

    GO - Biological processi

    1. single organismal cell-cell adhesion Source: UniProtKB

    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

    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

    ArrayExpressiQ9UI47.
    BgeeiQ9UI47.
    CleanExiHS_CTNNA3.
    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 19-867.
    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.
    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

    MSAETPITLN IDPQDLQVQT FTVEKLLEPL IIQVTTLVNC PQNPSSRKKG    50
    RSKRASVLLA SVEEATWNLL DKGEKIAQEA TVLKDELTAS LEEVRKESEA 100
    LKVSAERFTD DPCFLPKREA VVQAARALLA AVTRLLILAD MIDVMCLLQH 150
    VSAFQRTFES LKNVANKSDL QKTYQKLGKE LENLDYLAFK RQQDLKSPNQ 200
    RDEIAGARAS LKENSPLLHS ICSACLEHSD VASLKASKDT VCEEIQNALN 250
    VISNASQGIQ NMTTPPEPQA ATLGSALDEL ENLIVLNPLT VTEEEIRPSL 300
    EKRLEAIISG AALLADSSCT RDLHRERIIA ECNAIRQALQ DLLSEYMNNA 350
    GKKERSNTLN IALDNMCKKT RDLRRQLRKA IIDHVSDSFL DTTVPLLVLI 400
    EAAKNGREKE IKEYAAIFHE HTSRLVEVAN LACSMSTNED GIKIVKIAAN 450
    HLETLCPQII NAALALAARP KSQAVKNTME MYKRTWENHI HVLTEAVDDI 500
    TSIDDFLAVS ESHILEDVNK CIIALRDQDA DNLDRAAGAI RGRAARVAHI 550
    VTGEMDSYEP GAYTEGVMRN VNFLTSTVIP EFVTQVNVAL EALSKSSLNV 600
    LDDNQFVDIS KKIYDTIHDI RCSVMMIRTP EELEDVSDLE EEHEVRSHTS 650
    IQTEGKTDRA KMTQLPEAEK EKIAEQVADF KKVKSKLDAE IEIWDDTSND 700
    IIVLAKNMCM IMMEMTDFTR GKGPLKHTTD VIYAAKMISE SGSRMDVLAR 750
    QIANQCPDPS CKQDLLAYLE QIKFYSHQLK ICSQVKAEIQ NLGGELIMSA 800
    LDSVTSLIQA AKNLMNAVVQ TVKMSYIAST KIIRIQSPAG PRHPVVMWRM 850
    KAPAKKPLIK REKPEETCAA VRRGSAKKKI HPLQVMSEFR GRQIY 895
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 19-867.
    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.
    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

    ArrayExpressi Q9UI47.
    Bgeei Q9UI47.
    CleanExi HS_CTNNA3.
    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

    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 1, 2014
    This is version 106 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