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    DSG1 desmoglein 1 [ Homo sapiens (human) ]

    Gene ID: 1828, updated on 7-Jan-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DSG1 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31318160..31359246)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31508717..31549794)
    105.20220307 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: 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables gamma-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables gamma-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables toxic substance binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in desmosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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_2023_10

    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)