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DSC1 desmocollin 1 [ Homo sapiens (human) ]

Gene ID: 1823, updated on 23-Nov-2021

Summary

Official Symbol
DSC1provided by HGNC
Official Full Name
desmocollin 1provided by HGNC
Primary source
HGNC:HGNC:3035
See related
Ensembl:ENSG00000134765 MIM:125643
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDHF1; DG2/DG3
Summary
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]
Expression
Restricted expression toward skin (RPKM 118.5) See more
Orthologs
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Genomic context

See DSC1 in Genome Data Viewer
Location:
18q12.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (31129236..31162856, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28709199..28742819, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene desmocollin 3 Neighboring gene desmocollin 2 Neighboring gene DSC1/DSC2 antisense RNA Neighboring gene uncharacterized LOC105372049 Neighboring gene RNA, U6 small nuclear 167, pseudogene Neighboring gene desmoglein 1 Neighboring gene DSG1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of brain lesion distribution in multiple sclerosis.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of desmocollin 1 (DSC1) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cornified envelope TAS
Traceable Author Statement
more info
 
is_active_in desmosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
located_in gap junction TAS
Traceable Author Statement
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
desmocollin-1
Names
cadherin family member 1
desmosomal glycoprotein 2/3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029192.1 RefSeqGene

    Range
    5001..38621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004948.3NP_004939.1  desmocollin-1 isoform Dsc1b precursor

    See identical proteins and their annotated locations for NP_004939.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Dsc1b) includes an alternate exon in the 3' coding region, resulting in a frameshift and an early stop codon, compared to isoform Dsc1a. The encoded isoform (Dsc1b) is shorter than isoform Dsc1a. This isoform (Dsc1b) may undergo proteolytic processing similar to isoform Dsc1a.
    Source sequence(s)
    AC012417, CU447407, X72925, Z34522
    Consensus CDS
    CCDS11895.1
    UniProtKB/Swiss-Prot
    Q08554
    UniProtKB/TrEMBL
    Q9HB00
    Related
    ENSP00000257197.3, ENST00000257197.7
    Conserved Domains (4) summary
    cd11304
    Location:249350
    Cadherin_repeat; Cadherin tandem repeat domain
    smart01055
    Location:29109
    Cadherin_pro; Cadherin prodomain like
    pfam00028
    Location:139233
    Cadherin; Cadherin domain
    cl09101
    Location:596667
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
  2. NM_024421.2NP_077739.1  desmocollin-1 isoform Dsc1a preproprotein

    See identical proteins and their annotated locations for NP_077739.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Dsc1a) represents the shorter transcript and encodes the longer isoform (Dsc1a).
    Source sequence(s)
    AC012417, CU444724, CU447407, X72925, Z34522
    Consensus CDS
    CCDS11894.1
    UniProtKB/Swiss-Prot
    Q08554
    Related
    ENSP00000257198.6, ENST00000257198.6
    Conserved Domains (5) summary
    cd11304
    Location:249350
    Cadherin_repeat; Cadherin tandem repeat domain
    smart01055
    Location:29109
    Cadherin_pro; Cadherin prodomain like
    pfam00028
    Location:139233
    Cadherin; Cadherin domain
    pfam01049
    Location:850888
    Cadherin_C; Cadherin cytoplasmic region
    cl09101
    Location:596667
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    31129236..31162856 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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