DSC1

Protein identityUniProt · HPA

UniProt accession

Q08554

Gene

DSC1

Ensembl

ENSG00000134765

Chromosome

18

Canonical length

894 aa

Protein class

Plasma proteins, Predicted membrane proteins

OverviewNCBI Gene

The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015]

Canonical amino-acid sequenceUniProt

894 residues, UniProt reviewed canonical sequence.

>Q08554|DSC1
     1  MALASAAPGS IFCKQLLFSL LVLTLLCDAC QKVYLRVPSH LQAETLVGKV NLEECLKSAS
    61  LIRSSDPAFR ILEDGSIYTT HDLILSSERK SFSIFLSDGQ RREQQEIKVV LSARENKSPK
   121  KRHTKDTALK RSKRRWAPIP ASLMENSLGP FPQHVQQIQS DAAQNYTIFY SISGPGVDKE
   181  PFNLFYIEKD TGDIFCTRSI DREKYEQFAL YGYATTADGY APEYPLPLII KIEDDNDNAP
   241  YFEHRVTIFT VPENCRSGTS VGKVTATDLD EPDTLHTRLK YKILQQIPDH PKHFSIHPDT
   301  GVITTTTPFL DREKCDTYQL IMEVRDMGGQ PFGLFNTGTI TISLEDENDN PPSFTETSYV
   361  TEVEENRIDV EILRMKVQDQ DLPNTPHSKA VYKILQGNEN GNFIISTDPN TNEGVLCVVK
   421  PLNYEVNRQV ILQVGVINEA QFSKAASSQT PTMCTTTVTV KIIDSDEGPE CHPPVKVIQS
   481  QDGFPAGQEL LGYKALDPEI SSGEGLRYQK LGDEDNWFEI NQHTGDLRTL KVLDRESKFV
   541  KNNQYNISVV AVDAVGRSCT GTLVVHLDDY NDHAPQIDKE VTICQNNEDF AVLKPVDPDG
   601  PENGPPFQFF LDNSASKNWN IEEKDGKTAI LRQRQNLDYN YYSVPIQIKD RHGLVATHML
   661  TVRVCDCSTP SECRMKDKST RDVRPNVILG RWAILAMVLG SVLLLCILFT CFCVTAKRTV
   721  KKCFPEDIAQ QNLIVSNTEG PGEEVTEANI RLPMQTSNIC DTSMSVGTVG GQGIKTQQSF
   781  EMVKGGYTLD SNKGGGHQTL ESVKGVGQGD TGRYAYTDWQ SFTQPRLGEK VYLCGQDEEH
   841  KHCEDYVCSY NYEGKGSLAG SVGCCSDRQE EEGLEFLDHL EPKFRTLAKT CIKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DSC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

216 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DSC1.

Disease | AutoantibodyPubMed

Conditions in which antibodies against DSC1 are reported. Each links to that disease's full target list.

• Pemphigus 12

ReferencesPubMed · IEDB

Publications for DSC1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.95

gnomAD pLI

0

gnomAD missense Z

-0.1

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell-cell adhesion
• desmosome maintenance
• establishment of skin barrier
• hair follicle morphogenesis
• homophilic cell adhesion via plasma membrane adhesion molecules
• negative regulation of epithelial cell proliferation

Molecular functions

• calcium ion binding

Cellular components

• cornified envelope
• desmosome
• extracellular exosome
• ficolin-1-rich granule membrane
• gap junction
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Cadherin-like
• Desmosomal cadherin
• Cadherin prodomain
• Cadherin-like superfamily
• Cadherin conserved site
• Catenin binding domain superfamily
• Cadherin domain-containing protein
• Cadherin domain
• Cadherin prodomain like

KeywordsUniProt

• Calcium
• Cell adhesion
• Cell junction
• Cell membrane
• Cleavage on pair of basic residues
• Glycoprotein
• Membrane
• Metal-binding
• Phosphoprotein
• Repeat
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of DSC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• JUP