Reviewed,
UniProtKB/Swiss-Prot Q08554 (DSC1_HUMAN)
Last modified
June 16, 2009.
Version 81.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Desmocollin-1 Alternative name(s): Desmosomal glycoprotein 2/3 DG2/DG3 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 894 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | 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. |
| Subcellular location | Cell membrane; Single-pass type I membrane protein. Cell junction › desmosome. |
| Tissue specificity | Strongly expressed in epidermis, less in lymph node and tongue. |
| Domain | Calcium may be bound by the cadherin-like repeats Potential. |
| Sequence similarities | Contains 5 cadherin domains. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Cell adhesion |
| Cellular component | Cell junction Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Signal Transmembrane |
| Ligand | Calcium |
| PTM | Cleavage on pair of basic residues Glycoprotein Phosphoprotein |
| Technical term | Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | homophilic cell adhesion Inferred from electronic annotation. Source: InterPro |
| Cellular component | desmosome Inferred from electronic annotation. Source: UniProtKB-SubCell gap junctionTraceable author statement. Source: ProtInc integral to membraneInferred from electronic annotation. Source: UniProtKB-KW membrane fractionTraceable author statement. Source: ProtInc |
| Molecular function | calcium ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1A (identifier: Q08554-1) 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. | ||||||
| Isoform 1B (identifier: Q08554-2) Also known as: DG3; The sequence of this isoform differs from the canonical sequence as follows: 830-840: KVYLCGQDEEH → ESIRGHTLIKN 841-894: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 29 | 29 | Potential | ||||||
| Propeptide | 30 – 134 | 105 | Potential | PRO_0000003863 | |||||
| Chain | 135 – 894 | 760 | Desmocollin-1 | PRO_0000003864 | |||||
Regions | |||||||||
| Topological domain | 135 – 691 | 557 | Extracellular Potential | ||||||
| Transmembrane | 692 – 714 | 23 | Potential | ||||||
| Topological domain | 715 – 894 | 180 | Cytoplasmic Potential | ||||||
| Domain | 135 – 242 | 108 | Cadherin 1 | ||||||
| Domain | 243 – 354 | 112 | Cadherin 2 | ||||||
| Domain | 355 – 471 | 117 | Cadherin 3 | ||||||
| Domain | 472 – 575 | 104 | Cadherin 4 | ||||||
| Domain | 576 – 682 | 107 | Cadherin 5 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 385 | 1 | Phosphothreonine Ref.6 Ref.7 | ||||||
| Glycosylation | 165 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 546 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 830 – 840 | 11 | KVYLCGQDEEH → ESIRGHTLIKN in isoform 1B. | VSP_000651 | |||||
| Alternative sequence | 841 – 894 | 54 | Missing in isoform 1B. | VSP_000652 | |||||
| Natural variant | 460 | 1 | V → I: dbSNP rs17800159. | VAR_055579 | |||||
| Natural variant | 848 | 1 | C → F: dbSNP rs985861. | VAR_055580 | |||||
Experimental info | |||||||||
| Sequence conflict | 132 | 1 | S → T in CAA84278. Ref.1 | ||||||
| Sequence conflict | 132 | 1 | S → T in CAA84279. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 8507556] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), 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: 8288219] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). 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: 11027496] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: 1713860] [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: 17487921] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-385, MASS SPECTROMETRY. |
| [7] | "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-385, MASS SPECTROMETRY. Tissue: Epithelium. |
| [8] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| 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. | |
| IPI | IPI00216099. IPI00386975. |
| PIR | A48910. I37281. I37282. |
| RefSeq | NP_077739.1. |
| UniGene | Hs.567260 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1NCJ based on UniProtKB P15116. |
| ModBase | Search... |
Proteomic databases | |
| PRIDE | Q08554. |
Genome annotation databases | |
| Ensembl | ENSG00000134765. Homo sapiens. [Contig view] |
| GeneID | 1823. |
Organism-specific databases | |
| GeneCards | GC18M026963. |
| H-InvDB | HIX0039739. |
| HGNC | HGNC:3035. DSC1. |
| HPA | HPA012891. |
| MIM | 125643. gene. |
| PharmGKB | PA27488. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q08554. |
| HOVERGEN | Q08554. |
| OMA | Q08554. ESKFVKN. |
Gene expression databases | |
| ArrayExpress | Q08554. |
| Bgee | Q08554. |
| CleanEx | HS_DSC1. |
| GermOnline | ENSG00000134765. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002126. Cadherin. IPR014868. Cadherin_pro. IPR009122. Desmo_cadherin. IPR009124. Desmocollin. [Graphical view] |
| Gene3D | G3DSA:2.60.40.60. Cadherin. 4 hits. |
| Pfam | PF00028. Cadherin. 5 hits. PF08758. Cadherin_pro. 1 hit. [Graphical view] |
| PRINTS | PR00205. CADHERIN. PR01818. DESMOCADHERN. PR01820. DESMOCOLLIN. |
| SMART | SM00112. CA. 5 hits. [Graphical view] |
| PROSITE | PS00232. CADHERIN_1. 3 hits. PS50268. CADHERIN_2. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| SOURCE | Search... |
Entry information
| Entry name | DSC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q08554 Secondary accession number(s): Q9HB01 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 18 Human chromosome 18: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


