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Q08554 (DSC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Desmocollin-1
Alternative name(s):
Cadherin family member 1
Desmosomal glycoprotein 2/3
Short name=DG2/DG3
Gene names
Name:DSC1
Synonyms:CDHF1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length894 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

Subunit structure

Binds to JUP/plakoglobin. Ref.7

Subcellular location

Cell membrane; Single-pass type I membrane protein. Cell junctiondesmosome.

Tissue specificity

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

Domain

Calcium may be bound by the cadherin-like repeats Potential.

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 similarities

Contains 5 cadherin domains.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2929 Potential
Propeptide30 – 134105 Potential
PRO_0000003863
Chain135 – 894760Desmocollin-1
PRO_0000003864

Regions

Topological domain135 – 691557Extracellular Potential
Transmembrane692 – 71423Helical; Potential
Topological domain715 – 894180Cytoplasmic Potential
Domain135 – 242108Cadherin 1
Domain243 – 354112Cadherin 2
Domain355 – 471117Cadherin 3
Domain472 – 575104Cadherin 4
Domain576 – 682107Cadherin 5

Amino acid modifications

Modified residue3851Phosphothreonine Ref.6
Glycosylation1651N-linked (GlcNAc...) Potential
Glycosylation5461N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence830 – 84011KVYLCGQDEEH → ESIRGHTLIKN in isoform 1B.
VSP_000651
Alternative sequence841 – 89454Missing in isoform 1B.
VSP_000652
Natural variant931S → F.
Corresponds to variant rs35338395 [ dbSNP | Ensembl ].
VAR_061059
Natural variant4601V → I.
Corresponds to variant rs17800159 [ dbSNP | Ensembl ].
VAR_055579
Natural variant8481C → F. Ref.1
Corresponds to variant rs985861 [ dbSNP | Ensembl ].
VAR_055580

Experimental info

Sequence conflict1321S → T in CAA84278. Ref.1
Sequence conflict1321S → T in CAA84279. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1A (DG2) [UniParc].

Last modified February 10, 2009. Version 2.
Checksum: 2E0C835F6FE2E77F

FASTA89499,987
        10         20         30         40         50         60 
MALASAAPGS IFCKQLLFSL LVLTLLCDAC QKVYLRVPSH LQAETLVGKV NLEECLKSAS 

        70         80         90        100        110        120 
LIRSSDPAFR ILEDGSIYTT HDLILSSERK SFSIFLSDGQ RREQQEIKVV LSARENKSPK 

       130        140        150        160        170        180 
KRHTKDTALK RSKRRWAPIP ASLMENSLGP FPQHVQQIQS DAAQNYTIFY SISGPGVDKE 

       190        200        210        220        230        240 
PFNLFYIEKD TGDIFCTRSI DREKYEQFAL YGYATTADGY APEYPLPLII KIEDDNDNAP 

       250        260        270        280        290        300 
YFEHRVTIFT VPENCRSGTS VGKVTATDLD EPDTLHTRLK YKILQQIPDH PKHFSIHPDT 

       310        320        330        340        350        360 
GVITTTTPFL DREKCDTYQL IMEVRDMGGQ PFGLFNTGTI TISLEDENDN PPSFTETSYV 

       370        380        390        400        410        420 
TEVEENRIDV EILRMKVQDQ DLPNTPHSKA VYKILQGNEN GNFIISTDPN TNEGVLCVVK 

       430        440        450        460        470        480 
PLNYEVNRQV ILQVGVINEA QFSKAASSQT PTMCTTTVTV KIIDSDEGPE CHPPVKVIQS 

       490        500        510        520        530        540 
QDGFPAGQEL LGYKALDPEI SSGEGLRYQK LGDEDNWFEI NQHTGDLRTL KVLDRESKFV 

       550        560        570        580        590        600 
KNNQYNISVV AVDAVGRSCT GTLVVHLDDY NDHAPQIDKE VTICQNNEDF AVLKPVDPDG 

       610        620        630        640        650        660 
PENGPPFQFF LDNSASKNWN IEEKDGKTAI LRQRQNLDYN YYSVPIQIKD RHGLVATHML 

       670        680        690        700        710        720 
TVRVCDCSTP SECRMKDKST RDVRPNVILG RWAILAMVLG SVLLLCILFT CFCVTAKRTV 

       730        740        750        760        770        780 
KKCFPEDIAQ QNLIVSNTEG PGEEVTEANI RLPMQTSNIC DTSMSVGTVG GQGIKTQQSF 

       790        800        810        820        830        840 
EMVKGGYTLD SNKGGGHQTL ESVKGVGQGD TGRYAYTDWQ SFTQPRLGEK VYLCGQDEEH 

       850        860        870        880        890 
KHCEDYVCSY NYEGKGSLAG SVGCCSDRQE EEGLEFLDHL EPKFRTLAKT CIKK 

« Hide

Isoform 1B (DG3) [UniParc].

Checksum: DF66432C933CC9D1
Show »

FASTA84093,835

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] [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]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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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] [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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11894.1. [Q08554-1]
CCDS11895.1. [Q08554-2]
PIRA48910.
I37281.
I37282.
RefSeqNP_004939.1. NM_004948.3. [Q08554-2]
NP_077739.1. NM_024421.2. [Q08554-1]
UniGeneHs.567260.

3D structure databases

ProteinModelPortalQ08554.
SMRQ08554. Positions 136-667.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108157. 21 interactions.
IntActQ08554. 5 interactions.
STRING9606.ENSP00000257198.

PTM databases

PhosphoSiteQ08554.

Polymorphism databases

DMDM223590198.

Proteomic databases

MaxQBQ08554.
PaxDbQ08554.
PRIDEQ08554.

Protocols and materials databases

DNASU1823.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000257197; ENSP00000257197; ENSG00000134765. [Q08554-2]
ENST00000257198; ENSP00000257198; ENSG00000134765. [Q08554-1]
GeneID1823.
KEGGhsa:1823.
UCSCuc002kwn.3. human. [Q08554-1]

Organism-specific databases

CTD1823.
GeneCardsGC18M028732.
H-InvDBHIX0039739.
HGNCHGNC:3035. DSC1.
HPAHPA012891.
MIM125643. gene.
neXtProtNX_Q08554.
PharmGKBPA27488.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG304955.
HOGENOMHOG000231253.
HOVERGENHBG102801.
InParanoidQ08554.
KOK07600.
OMAIKDRHGL.
OrthoDBEOG74BJR7.
PhylomeDBQ08554.
TreeFamTF316817.

Gene expression databases

ArrayExpressQ08554.
BgeeQ08554.
CleanExHS_DSC1.
GenevestigatorQ08554.

Family and domain databases

Gene3D2.60.40.60. 6 hits.
4.10.900.10. 1 hit.
InterProIPR002126. 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]
PANTHERPTHR24025. PTHR24025. 1 hit.
PfamPF00028. Cadherin. 4 hits.
PF01049. Cadherin_C. 1 hit.
PF08758. Cadherin_pro. 1 hit.
[Graphical view]
PRINTSPR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01820. DESMOCOLLIN.
SMARTSM00112. CA. 5 hits.
SM01055. Cadherin_pro. 1 hit.
[Graphical view]
SUPFAMSSF49313. SSF49313. 6 hits.
PROSITEPS00232. CADHERIN_1. 3 hits.
PS50268. CADHERIN_2. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDSC1.
GenomeRNAi1823.
NextBio7431.
PROQ08554.
SOURCESearch...

Entry information

Entry nameDSC1_HUMAN
AccessionPrimary (citable) accession number: Q08554
Secondary accession number(s): Q9HB01
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 10, 2009
Last modified: July 9, 2014
This is version 128 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM