Format

Send to:

Choose Destination
    • Showing Current items.

    DSG1 desmoglein 1 [ Homo sapiens (human) ]

    Gene ID: 1828, updated on 17-Jun-2019

    Summary

    Official Symbol
    DSG1provided by HGNC
    Official Full Name
    desmoglein 1provided by HGNC
    Primary source
    HGNC:HGNC:3048
    See related
    Ensembl:ENSG00000134760 MIM:125670
    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

    Genomic context

    See DSG1 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (31318160..31359246)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28898052..28937394)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene DSC1/DSC2 antisense RNA Neighboring gene desmocollin 1 Neighboring gene uncharacterized LOC105372049 Neighboring gene RNA, U6 small nuclear 167, pseudogene Neighboring gene DSG1 antisense RNA 1 Neighboring gene desmoglein 4 Neighboring gene desmoglein 3

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
    MedGen: C3809719 OMIM: 615508 GeneReviews: Not available
    not available
    Keratosis palmoplantaris striata 1
    MedGen: C2931122 OMIM: 148700 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic cleavage of cell adhesion proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cell adhesion proteins, organism-specific biosystemApoptotic cells show dramatic rearrangements of tight junctions, adherens junctions, and desmosomes (Abreu et al., 2000). Desmosome-specific members of the cadherin superfamily of cell adhesion mole...
    • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Programmed Cell Death, organism-specific biosystem (from REACTOME)
      Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
    • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
      Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
    • Staphylococcus aureus infection, conserved biosystem (from KEGG)
      Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    gamma-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    gamma-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    toxic substance binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell-cell junction assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cornification TAS
    Traceable Author Statement
    more info
     
    homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    keratinization TAS
    Traceable Author Statement
    more info
     
    maternal process involved in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to progesterone IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    colocalizes_with cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cornified envelope TAS
    Traceable Author Statement
    more info
     
    cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    desmosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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
      5001..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
      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: Homo sapiens Annotation Release 109

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