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Q08554

- DSC1_HUMAN

UniProt

Q08554 - DSC1_HUMAN

Protein

Desmocollin-1

Gene

DSC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (10 Feb 2009)
      Previous versions | rss
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    Functioni

    Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues.

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    GO - Biological processi

    1. homophilic cell adhesion Source: InterPro

    Keywords - Biological processi

    Cell adhesion

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Desmocollin-1
    Alternative name(s):
    Cadherin family member 1
    Desmosomal glycoprotein 2/3
    Short name:
    DG2/DG3
    Gene namesi
    Name:DSC1
    Synonyms:CDHF1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:3035. DSC1.

    Subcellular locationi

    GO - Cellular componenti

    1. desmosome Source: UniProtKB-SubCell
    2. extracellular vesicular exosome Source: UniProt
    3. gap junction Source: ProtInc
    4. integral component of membrane Source: UniProtKB-KW
    5. membrane Source: ProtInc
    6. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27488.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2929Sequence AnalysisAdd
    BLAST
    Propeptidei30 – 134105Sequence AnalysisPRO_0000003863Add
    BLAST
    Chaini135 – 894760Desmocollin-1PRO_0000003864Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi165 – 1651N-linked (GlcNAc...)Sequence Analysis
    Modified residuei385 – 3851Phosphothreonine1 Publication
    Glycosylationi546 – 5461N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ08554.
    PaxDbiQ08554.
    PRIDEiQ08554.

    PTM databases

    PhosphoSiteiQ08554.

    Expressioni

    Tissue specificityi

    Strongly expressed in epidermis, less in lymph node and tongue.

    Gene expression databases

    ArrayExpressiQ08554.
    BgeeiQ08554.
    CleanExiHS_DSC1.
    GenevestigatoriQ08554.

    Organism-specific databases

    HPAiHPA012891.

    Interactioni

    Subunit structurei

    Binds to JUP/plakoglobin.

    Protein-protein interaction databases

    BioGridi108157. 19 interactions.
    IntActiQ08554. 5 interactions.
    STRINGi9606.ENSP00000257198.

    Structurei

    3D structure databases

    ProteinModelPortaliQ08554.
    SMRiQ08554. Positions 136-667.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini135 – 691557ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini715 – 894180CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei692 – 71423HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini135 – 242108Cadherin 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini243 – 354112Cadherin 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini355 – 471117Cadherin 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini472 – 575104Cadherin 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini576 – 682107Cadherin 5PROSITE-ProRule annotationAdd
    BLAST

    Domaini

    Calcium may be bound by the cadherin-like repeats.Curated
    Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.By similarity

    Sequence similaritiesi

    Contains 5 cadherin domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG304955.
    HOGENOMiHOG000231253.
    HOVERGENiHBG102801.
    InParanoidiQ08554.
    KOiK07600.
    OMAiIKDRHGL.
    OrthoDBiEOG74BJR7.
    PhylomeDBiQ08554.
    TreeFamiTF316817.

    Family and domain databases

    Gene3Di2.60.40.60. 6 hits.
    4.10.900.10. 1 hit.
    InterProiIPR002126. Cadherin.
    IPR015919. Cadherin-like.
    IPR009124. Cadherin/Desmocollin.
    IPR020894. Cadherin_CS.
    IPR000233. Cadherin_cytoplasmic-dom.
    IPR014868. Cadherin_pro_dom.
    IPR027397. Catenin_binding_dom.
    IPR009122. Desmosomal_cadherin.
    [Graphical view]
    PANTHERiPTHR24025. PTHR24025. 1 hit.
    PfamiPF00028. Cadherin. 4 hits.
    PF01049. Cadherin_C. 1 hit.
    PF08758. Cadherin_pro. 1 hit.
    [Graphical view]
    PRINTSiPR00205. CADHERIN.
    PR01818. DESMOCADHERN.
    PR01820. DESMOCOLLIN.
    SMARTiSM00112. CA. 5 hits.
    SM01055. Cadherin_pro. 1 hit.
    [Graphical view]
    SUPFAMiSSF49313. SSF49313. 6 hits.
    PROSITEiPS00232. CADHERIN_1. 3 hits.
    PS50268. CADHERIN_2. 5 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1A (identifier: Q08554-1) [UniParc]FASTAAdd to Basket

    Also known as: DG2

    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

    MALASAAPGS IFCKQLLFSL LVLTLLCDAC QKVYLRVPSH LQAETLVGKV    50
    NLEECLKSAS LIRSSDPAFR ILEDGSIYTT HDLILSSERK SFSIFLSDGQ 100
    RREQQEIKVV LSARENKSPK KRHTKDTALK RSKRRWAPIP ASLMENSLGP 150
    FPQHVQQIQS DAAQNYTIFY SISGPGVDKE PFNLFYIEKD TGDIFCTRSI 200
    DREKYEQFAL YGYATTADGY APEYPLPLII KIEDDNDNAP YFEHRVTIFT 250
    VPENCRSGTS VGKVTATDLD EPDTLHTRLK YKILQQIPDH PKHFSIHPDT 300
    GVITTTTPFL DREKCDTYQL IMEVRDMGGQ PFGLFNTGTI TISLEDENDN 350
    PPSFTETSYV TEVEENRIDV EILRMKVQDQ DLPNTPHSKA VYKILQGNEN 400
    GNFIISTDPN TNEGVLCVVK PLNYEVNRQV ILQVGVINEA QFSKAASSQT 450
    PTMCTTTVTV KIIDSDEGPE CHPPVKVIQS QDGFPAGQEL LGYKALDPEI 500
    SSGEGLRYQK LGDEDNWFEI NQHTGDLRTL KVLDRESKFV KNNQYNISVV 550
    AVDAVGRSCT GTLVVHLDDY NDHAPQIDKE VTICQNNEDF AVLKPVDPDG 600
    PENGPPFQFF LDNSASKNWN IEEKDGKTAI LRQRQNLDYN YYSVPIQIKD 650
    RHGLVATHML TVRVCDCSTP SECRMKDKST RDVRPNVILG RWAILAMVLG 700
    SVLLLCILFT CFCVTAKRTV KKCFPEDIAQ QNLIVSNTEG PGEEVTEANI 750
    RLPMQTSNIC DTSMSVGTVG GQGIKTQQSF EMVKGGYTLD SNKGGGHQTL 800
    ESVKGVGQGD TGRYAYTDWQ SFTQPRLGEK VYLCGQDEEH KHCEDYVCSY 850
    NYEGKGSLAG SVGCCSDRQE EEGLEFLDHL EPKFRTLAKT CIKK 894
    Length:894
    Mass (Da):99,987
    Last modified:February 10, 2009 - v2
    Checksum:i2E0C835F6FE2E77F
    GO
    Isoform 1B (identifier: Q08554-2) [UniParc]FASTAAdd to Basket

    Also known as: DG3

    The sequence of this isoform differs from the canonical sequence as follows:
         830-840: KVYLCGQDEEH → ESIRGHTLIKN
         841-894: Missing.

    Show »
    Length:840
    Mass (Da):93,835
    Checksum:iDF66432C933CC9D1
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti132 – 1321S → T in CAA84278. (PubMed:8507556)Curated
    Sequence conflicti132 – 1321S → T in CAA84279. (PubMed:8507556)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931S → F.
    Corresponds to variant rs35338395 [ dbSNP | Ensembl ].
    VAR_061059
    Natural varianti460 – 4601V → I.
    Corresponds to variant rs17800159 [ dbSNP | Ensembl ].
    VAR_055579
    Natural varianti848 – 8481C → F.1 Publication
    Corresponds to variant rs985861 [ dbSNP | Ensembl ].
    VAR_055580

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei830 – 84011KVYLCGQDEEH → ESIRGHTLIKN in isoform 1B. 2 PublicationsVSP_000651Add
    BLAST
    Alternative sequencei841 – 89454Missing in isoform 1B. 2 PublicationsVSP_000652Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z34522 mRNA. Translation: CAA84279.1.
    Z34522 mRNA. Translation: CAA84278.1.
    X72925 mRNA. Translation: CAA51428.1.
    X72925 mRNA. Translation: CAA51429.1.
    AF293358 Genomic DNA. Translation: AAG23424.1.
    CH471088 Genomic DNA. Translation: EAX01252.1.
    CCDSiCCDS11894.1. [Q08554-1]
    CCDS11895.1. [Q08554-2]
    PIRiA48910.
    I37281.
    I37282.
    RefSeqiNP_004939.1. NM_004948.3. [Q08554-2]
    NP_077739.1. NM_024421.2. [Q08554-1]
    UniGeneiHs.567260.

    Genome annotation databases

    EnsembliENST00000257197; ENSP00000257197; ENSG00000134765. [Q08554-2]
    ENST00000257198; ENSP00000257198; ENSG00000134765. [Q08554-1]
    GeneIDi1823.
    KEGGihsa:1823.
    UCSCiuc002kwn.3. human. [Q08554-1]

    Polymorphism databases

    DMDMi223590198.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z34522 mRNA. Translation: CAA84279.1 .
    Z34522 mRNA. Translation: CAA84278.1 .
    X72925 mRNA. Translation: CAA51428.1 .
    X72925 mRNA. Translation: CAA51429.1 .
    AF293358 Genomic DNA. Translation: AAG23424.1 .
    CH471088 Genomic DNA. Translation: EAX01252.1 .
    CCDSi CCDS11894.1. [Q08554-1 ]
    CCDS11895.1. [Q08554-2 ]
    PIRi A48910.
    I37281.
    I37282.
    RefSeqi NP_004939.1. NM_004948.3. [Q08554-2 ]
    NP_077739.1. NM_024421.2. [Q08554-1 ]
    UniGenei Hs.567260.

    3D structure databases

    ProteinModelPortali Q08554.
    SMRi Q08554. Positions 136-667.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108157. 19 interactions.
    IntActi Q08554. 5 interactions.
    STRINGi 9606.ENSP00000257198.

    PTM databases

    PhosphoSitei Q08554.

    Polymorphism databases

    DMDMi 223590198.

    Proteomic databases

    MaxQBi Q08554.
    PaxDbi Q08554.
    PRIDEi Q08554.

    Protocols and materials databases

    DNASUi 1823.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000257197 ; ENSP00000257197 ; ENSG00000134765 . [Q08554-2 ]
    ENST00000257198 ; ENSP00000257198 ; ENSG00000134765 . [Q08554-1 ]
    GeneIDi 1823.
    KEGGi hsa:1823.
    UCSCi uc002kwn.3. human. [Q08554-1 ]

    Organism-specific databases

    CTDi 1823.
    GeneCardsi GC18M028732.
    H-InvDB HIX0039739.
    HGNCi HGNC:3035. DSC1.
    HPAi HPA012891.
    MIMi 125643. gene.
    neXtProti NX_Q08554.
    PharmGKBi PA27488.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG304955.
    HOGENOMi HOG000231253.
    HOVERGENi HBG102801.
    InParanoidi Q08554.
    KOi K07600.
    OMAi IKDRHGL.
    OrthoDBi EOG74BJR7.
    PhylomeDBi Q08554.
    TreeFami TF316817.

    Miscellaneous databases

    GeneWikii DSC1.
    GenomeRNAii 1823.
    NextBioi 7431.
    PROi Q08554.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q08554.
    Bgeei Q08554.
    CleanExi HS_DSC1.
    Genevestigatori Q08554.

    Family and domain databases

    Gene3Di 2.60.40.60. 6 hits.
    4.10.900.10. 1 hit.
    InterProi IPR002126. Cadherin.
    IPR015919. Cadherin-like.
    IPR009124. Cadherin/Desmocollin.
    IPR020894. Cadherin_CS.
    IPR000233. Cadherin_cytoplasmic-dom.
    IPR014868. Cadherin_pro_dom.
    IPR027397. Catenin_binding_dom.
    IPR009122. Desmosomal_cadherin.
    [Graphical view ]
    PANTHERi PTHR24025. PTHR24025. 1 hit.
    Pfami PF00028. Cadherin. 4 hits.
    PF01049. Cadherin_C. 1 hit.
    PF08758. Cadherin_pro. 1 hit.
    [Graphical view ]
    PRINTSi PR00205. CADHERIN.
    PR01818. DESMOCADHERN.
    PR01820. DESMOCOLLIN.
    SMARTi SM00112. CA. 5 hits.
    SM01055. Cadherin_pro. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49313. SSF49313. 6 hits.
    PROSITEi PS00232. CADHERIN_1. 3 hits.
    PS50268. CADHERIN_2. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Differential synthesis of type 1 and type 2 desmocollin mRNAs in human stratified epithelia."
      Theis D.G., Koch P.J., Franke W.W.
      Int. J. Dev. Biol. 37:101-110(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B), VARIANT PHE-848.
      Tissue: Foreskin.
    2. "Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18."
      King I.A., Arnemann J., Spurr N.K., Buxton R.S.
      Genomics 18:185-194(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B).
      Tissue: Skin.
    3. "Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3."
      Whittock N.V., Hunt D.M., Rickman L., Malhi S., Vogazianou A.P., Dawson L.F., Eady R.A.J., Buxton R.S., McGrath J.A.
      Biochem. Biophys. Res. Commun. 276:454-460(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Keratinization is associated with the expression of a new protein related to the desmosomal cadherins DGII/III."
      King I.A., Magee A.I., Rees D.A., Buxton R.S.
      FEBS Lett. 286:9-12(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 135-151 AND 283-292.
    6. "Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line."
      Giorgianni F., Zhao Y., Desiderio D.M., Beranova-Giorgianni S.
      Electrophoresis 28:2027-2034(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-385, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Prostate cancer.
    7. "Interactions of plakoglobin and beta-catenin with desmosomal cadherins: basis of selective exclusion of alpha- and beta-catenin from desmosomes."
      Choi H.J., Gross J.C., Pokutta S., Weis W.I.
      J. Biol. Chem. 284:31776-31788(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH JUP/PLAKOGLOBIN.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiDSC1_HUMAN
    AccessioniPrimary (citable) accession number: Q08554
    Secondary accession number(s): Q9HB01
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: February 10, 2009
    Last modified: October 1, 2014
    This is version 130 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 18
      Human chromosome 18: 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