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DSG1 desmoglein 1 [ Homo sapiens (human) ]

Gene ID: 1828, updated on 4-Jan-2025

Summary

Official Symbol
DSG1provided by HGNC
Official Full Name
desmoglein 1provided by HGNC
Primary source
HGNC:HGNC:3048
See related
Ensembl:ENSG00000134760 MIM:125670; AllianceGenome:HGNC:3048
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
DG1; DSG; CDHF4; EPKHE; PPKS1; SPPK1; EPKHIA
Summary
This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]
Expression
Restricted expression toward skin (RPKM 314.6) See more
Orthologs
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Genomic context

See DSG1 in Genome Data Viewer
Location:
18q12.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31318160..31359246)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31508717..31549794)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28898123..28939209)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13196 Neighboring gene uncharacterized LOC124904346 Neighboring gene NANOG hESC enhancer GRCh37_chr18:28881307-28881808 Neighboring gene NANOG hESC enhancer GRCh37_chr18:28909706-28910228 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:28933613-28934812 Neighboring gene RNA, U6 small nuclear 167, pseudogene Neighboring gene DSG1 antisense RNA 1 Neighboring gene MPRA-validated peak3094 silencer Neighboring gene desmoglein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9383 Neighboring gene desmoglein 3

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

EBI GWAS Catalog

Description
Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding  
enables calcium ion binding PubMed 
enables gamma-catenin binding  
enables gamma-catenin binding PubMed 
enables protein binding PubMed 
enables toxic substance binding PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane  
colocalizes_with cell-cell junction PubMed 
located_in cornified envelope  
located_in cytoplasm PubMed 
located_in cytoplasmic side of plasma membrane PubMed 
located_in cytosol  
is_active_in desmosome  
located_in desmosome PubMed 
located_in desmosome PubMed 
located_in ficolin-1-rich granule membrane  
located_in lateral plasma membrane  
located_in nucleus PubMed 
located_in plasma membrane  

General protein information

Preferred Names
desmoglein-1
Names
cadherin family member 4
desmosomal glycoprotein 1
pemphigus foliaceus antigen

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_011803.2 RefSeqGene

    Range
    5072..46158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001942.4NP_001933.2  desmoglein-1 preproprotein

    See identical proteins and their annotated locations for NP_001933.2

    Status: REVIEWED

    Source sequence(s)
    AC009717, AF097935, BX476267, CU456411
    Consensus CDS
    CCDS11896.1
    UniProtKB/Swiss-Prot
    B7Z845, Q02413
    Related
    ENSP00000257192.4, ENST00000257192.5
    Conserved Domains (3) summary
    cd11304
    Location:161265
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam00028
    Location:54148
    Cadherin; Cadherin domain
    pfam01049
    Location:646761
    Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    31318160..31359246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    31508717..31549794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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