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DSC3 desmocollin 3 [ Homo sapiens (human) ]

Gene ID: 1825, updated on 25-Nov-2021

Summary

Official Symbol
DSC3provided by HGNC
Official Full Name
desmocollin 3provided by HGNC
Primary source
HGNC:HGNC:3037
See related
Ensembl:ENSG00000134762 MIM:600271
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
DSC; DSC1; DSC2; DSC4; CDHF3; HT-CP
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. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Expression
Biased expression in skin (RPKM 186.5) and esophagus (RPKM 47.4) See more
Orthologs
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Genomic context

See DSC3 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 (30989365..31042742, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28569331..28622708, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372046 Neighboring gene uncharacterized LOC105372047 Neighboring gene RNA, U6 small nuclear 857, pseudogene Neighboring gene desmocollin 2 Neighboring gene DSC1/DSC2 antisense RNA Neighboring gene desmocollin 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 (GWAS) for bronchopulmonary dysplasia.
GeneReviews: Not available
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
GeneReviews: Not available
Hypotrichosis and recurrent skin vesicles
MedGen: C2751292 OMIM: 613102 GeneReviews: Not available
Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with desmocollin 3 (DSC3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses 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 gamma-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cell adhesion TAS
Traceable Author Statement
more info
PubMed 
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
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
 
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
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in desmosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
desmocollin-3
Names
cadherin family member 3
desmocollin-4

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_016782.1 RefSeqGene

    Range
    5001..58451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001941.5NP_001932.2  desmocollin-3 isoform Dsc3a preproprotein

    See identical proteins and their annotated locations for NP_001932.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Dsc3a) represents the shorter transcript but encodes the longer isoform (Dsc3a).
    Source sequence(s)
    AC025212, AI123917, D17427, DA860471
    Consensus CDS
    CCDS32810.1
    UniProtKB/Swiss-Prot
    Q14574
    Related
    ENSP00000353608.4, ENST00000360428.9
    Conserved Domains (5) summary
    cd11304
    Location:247351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart01055
    Location:27111
    Cadherin_pro; Cadherin prodomain like
    pfam00028
    Location:360462
    Cadherin; Cadherin domain
    pfam01049
    Location:829891
    Cadherin_C; Cadherin cytoplasmic region
    cl09101
    Location:596669
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
  2. NM_024423.4NP_077741.2  desmocollin-3 isoform Dsc3b preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Dsc3b) includes an additional exon in the 3' region and it thus differs in its 3' coding region and 3' UTR, compared to variant Dsc3a. The encoded isoform (Dsc3b) has a distinct C-terminus and is shorter than isoform Dsc3a. There are no publicly available full-length transcripts representing this variant, but it is supported by mRNA annotation on DNA accession AF293359.1, and by data in PMIDs 7929347 and 11027496.
    Source sequence(s)
    AC025212, AI123917, BG214334, BG697535, D17427, DA860471
    UniProtKB/Swiss-Prot
    Q14574
    Related
    ENSP00000392068.1, ENST00000434452.5
    Conserved Domains (4) summary
    cd11304
    Location:247351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart01055
    Location:27111
    Cadherin_pro; Cadherin prodomain like
    pfam00028
    Location:360462
    Cadherin; Cadherin domain
    cl09101
    Location:596669
    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
    30989365..31042742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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