DSC1 desmocollin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DSC1provided by HGNC
Official Full Name: desmocollin 1provided by HGNC
Primary source: HGNC:HGNC:3035
See related: Ensembl:ENSG00000134765 MIM:125643; AllianceGenome:HGNC:3035
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: mouse all
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Genomic context

Location:: 18q12.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (31129236..31162856, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (31319561..31418220, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (28709199..28742819, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Desmocollin-1 is associated with pro-metastatic phenotype of luminal A breast cancer cells and is modulated by parthenolide.
Title: Desmocollin-1 is associated with pro-metastatic phenotype of luminal A breast cancer cells and is modulated by parthenolide.
Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis.
Title: Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis.
CircRAB11FIP1 promoted autophagy flux of ovarian cancer through DSC1 and miR-129.
Title: CircRAB11FIP1 promoted autophagy flux of ovarian cancer through DSC1 and miR-129.
desmocollin-1 (DSC1) is validated as a protein connected with lymph node status of luminal A breast cancer, tumor grade, and Her-2 status and catechol-O-methyltransferase is successfully verified as a protein associated with lymph node metastasis of triple negative breast cancer.
Title: Proteomics Identification and Validation of Desmocollin-1 and Catechol-O-Methyltransferase as Proteins Associated with Breast Cancer Cell Migration and Metastasis.
DSC1 expression is significantly downregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
Increased expression of DSC1 can promote the occurrence of head and neck squamous cell carcinoma (HNSCC) and is associated with tumor. The increased expression of DSC1 also indicates a poor prognosis of the patients with HNSCC.
Title: Lower DSC1 expression is related to the poor differentiation and prognosis of head and neck squamous cell carcinoma (HNSCC).
Low expression of DSC 1, 2, and 3 was observed in 55, 54, and 79 % of liver metastases.
Title: The influence of desmocollin 1-3 expression on prognosis after curative resection of colorectal liver metastases.
High expression of desmocollin 1 (DSC1) was observed in 41.6%, DSC2 in 58.0%, DSC3 in 61.4%, E-cadherin in 71.4%, CDX2 in 58.0%, PITX1 in 55.0%, CDK4 in 0.2%, TLE1 in 1.3%, Factor H in 42.5%, and MDM2 in 0.2% of colorectal carcinomas.
Title: Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are associated with tumor progression and survival in colorectal carcinoma.
Increased Dsc1 protein is associated with colorectal cancer
Title: Desmocollin switching in colorectal cancer.
in majority of patients with Netherton syndrome, Dsg1 & Dsc1 were reduced in living layers of epidermis; SCTE-like & SCCE-like activities were increased, suggesting these proteases participate in premature degradation of corneodesmosomal cadherins
Title: Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of brain lesion distribution in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18129 (e-PCR)
- UniSTS:87572

SGC35630 (e-PCR)
- UniSTS:37543

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in desmosome maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of skin barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in hair follicle morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cornified envelope	TAS Traceable Author Statement more info
is_active_in desmosome	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	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 membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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

NG_029192.1 RefSeqGene

Range

5001..38621

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004948.3 → NP_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/TrEMBL

Q9HB00

Related

ENSP00000257197.3, ENST00000257197.7

Conserved Domains (4) summary

cd11304
Location:249 → 350

Cadherin_repeat; Cadherin tandem repeat domain

smart01055
Location:29 → 109

Cadherin_pro; Cadherin prodomain like

pfam00028
Location:139 → 233

Cadherin; Cadherin domain

cl09101
Location:596 → 667

E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
NM_024421.2 → NP_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, Q9HB01

Related

ENSP00000257198.6, ENST00000257198.6

Conserved Domains (5) summary

cd11304
Location:249 → 350

Cadherin_repeat; Cadherin tandem repeat domain

smart01055
Location:29 → 109

Cadherin_pro; Cadherin prodomain like

pfam00028
Location:139 → 233

Cadherin; Cadherin domain

pfam01049
Location:850 → 888

Cadherin_C; Cadherin cytoplasmic region

cl09101
Location:596 → 667

E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus