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DSG1 Gene

protein-coding   GIFtS: 65
GCID: GC18P028921

Desmoglein 1


(Previous symbol: DSG)
  See DSG1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Desmoglein 11 2     DGI2 3
DSG1 2     EPKHE2 5
Cadherin Family Member 42 3     PPKS12 5
Desmosomal Glycoprotein 12 3     SPPK12 5
Pemphigus Foliaceus Antigen2 3     EPKHIA2
CDHF42 3     desmoglein-12
DG12 3     

External Ids:    HGNC: 30481   Entrez Gene: 18282   Ensembl: ENSG000001347607   OMIM: 1256705   UniProtKB: Q024133   

Export aliases for DSG1 gene to outside databases

Previous GC identifers: GC18P028717 GC18P027150 GC18P027152 GC18P025754


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DSG1 Gene:
Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein 1 is a
calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently,
three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion
molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein
encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus
foliaceus. (provided by RefSeq, Jul 2008)

GeneCards Summary for DSG1 Gene:
DSG1 (desmoglein 1) is a protein-coding gene. Diseases associated with DSG1 include erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige, and pemphigus. GO annotations related to this gene include toxic substance binding and calcium ion binding. An important paralog of this gene is DSC1.

UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413
Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and
intermediate filaments mediating cell-cell adhesion

Gene Wiki entry for DSG1 (Desmoglein 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the DSG1 gene promoter:
         RelA   HNF-1A   Evi-1   YY1   PPAR-alpha   S8   CP2   Cart-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSG1 promoter sequence
   Search Chromatin IP Primers for DSG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DSG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q12.1   Ensembl cytogenetic band:  18q12.1   HGNC cytogenetic band: 18q12.1

DSG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSG1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P028921:  view genomic region     (about GC identifiers)

Start:
28,898,052 bp from pter      End:
28,937,394 bp from pter
Size:
39,343 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413 (See protein sequence)
Recommended Name: Desmoglein-1 precursor  
Size: 1049 amino acids; 113748 Da
Subunit: Binds to JUP/plakoglobin

Explore the universe of human proteins at neXtProt for DSG1: NX_Q02413

Explore proteomics data for DSG1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn36, Asn110, Asn180
  • Modification sites at PhosphoSitePlus

  • See DSG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001933.2  
    ENSEMBL proteins: 
     ENSP00000257192   ENSP00000462666  
    Reactome Protein details: Q02413

    DSG1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for DSG1

     
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    antibodies-online proteins for DSG1 (3 products) 

     
    antibodies-online peptides for DSG1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MCDH: Cadherins / Major cadherins

    Selected InterPro protein domains (see all 7):
     IPR027397 Catenin_binding_dom
     IPR009123 Desmoglein
     IPR000233 Cadherin_cytoplasmic-dom
     IPR002126 Cadherin
     IPR015919 Cadherin-like

    Graphical View of Domain Structure for InterPro Entry Q02413

    ProtoNet protein and cluster: Q02413

    3 Blocks protein domains:
    IPB002126 Cadherin
    IPB009122 Desmosomal cadherin signature
    IPB009123 Desmoglein signature


    UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413
    Domain: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the
    connections, imparting a strong curvature to the full-length ectodomain (By similarity)
    Similarity: Contains 4 cadherin domains


    Find genes that share domains with DSG1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DSG1_HUMAN, Q02413
    Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and
    intermediate filaments mediating cell-cell adhesion

         Genatlas biochemistry entry for DSG1:
    desmoglein 1 (desmosomal glycoprotein, cadherin superfamily of calcium dependent cell-adhesion molecule),pemphigus
    foliaceus and herpetiform pemphigus autoantigen,mostly expressed in stratified squamous epithelia suprabasal
    layer

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding NAS1770008
    GO:0015643toxic substance binding NAS12582396
    GO:0045295gamma-catenin binding IPI7983064
         
    Find genes that share ontologies with DSG1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DSG1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DSG1

    miRNA
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    miRTarBase miRNAs that target DSG1:
    hsa-mir-148b-3p (MIRT019462)

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    2 qRT-PCR Assays for microRNAs that regulate DSG1:
    hsa-miR-3690 hsa-miR-1303
    SwitchGear 3'UTR luciferase reporter plasmidDSG1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DSG1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DSG1_HUMAN, Q02413: Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, desmosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    cytoskeleton2
    endoplasmic reticulum2
    extracellular2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0005911colocalizes with cell-cell junction IDA7983064
    GO:0009898cytoplasmic side of plasma membrane IDA7983064
    GO:0016020membrane ----

    Find genes that share ontologies with DSG1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DSG1 About    
    See pathways by source

    SuperPathContained pathways About
    1Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    Apoptotic cleavage of cell adhesion proteins0.00
    Apoptotic execution phase0.74
    2CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.38
    3Staphylococcus aureus infection
    Staphylococcus aureus infection


    Find genes that share SuperPaths with DSG1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for DSG1
        Apoptotic cleavage of cell adhesion proteins


    1 Kegg Pathway  (Kegg details for DSG1):
        Staphylococcus aureus infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DSG1: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DSG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DSG1 (Q024133 ENSP000002571924) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JUPP149233, ENSP000003111134I2D: score=3 STRING: ENSP00000311113
    PKP3Q9Y4463, ENSP000003316784I2D: score=3 STRING: ENSP00000331678
    DSC2Q024873, ENSP000002809044I2D: score=2 STRING: ENSP00000280904
    PKP2Q999593, ENSP000000708464I2D: score=2 STRING: ENSP00000070846
    USP1O947823, ENSP000003435264I2D: score=2 STRING: ENSP00000343526
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0007043cell-cell junction assembly NAS12485422
    GO:0007156homophilic cell adhesion IEA--
    GO:0016337cell-cell adhesion NAS1711210

    Find genes that share ontologies with DSG1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DSG1

    1 HMDB Compound for DSG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    8 Novoseek inferred chemical compound relationships for DSG1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rituximab 49 1 17461818 (1)
    ivig 45.7 5 12482393 (3), 18423257 (1), 19222460 (1)
    toxin a 41.6 6 11062541 (2), 15854034 (1), 11982763 (1), 15482466 (1)
    serine 31.9 6 8731669 (2), 19177137 (1), 11442563 (1)
    sucrose 0 1 11710948 (1)
    calcium 0 10 18578707 (3), 7543549 (1), 1657105 (1), 7860995 (1) (see all 6)
    retinoic acid 0 2 9892899 (1), 15482329 (1)
    acetylcholine 0 2 17135055 (1), 18429643 (1)



    Find genes that share compounds with DSG1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DSG1 gene: 
    NM_001942.2  

    Unigene Cluster for DSG1:

    Desmoglein 1
    Hs.2633  [show with all ESTs]
    Unigene Representative Sequence: NM_001942
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257192(uc002kwp.3 uc010xbp.2) ENST00000462981
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate DSG1:
    hsa-miR-3690 hsa-miR-1303
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF088042.1 AF097935.1 AK302888.1 X56654.1 

    2 DOTS entries:

    DT.110322  DT.91855874 

    Selected AceView cDNA sequences (see all 44):

    W94221 AW104873 BU727128 W72968 AF088042 AI144410 AI217100 AI147042 
    BX645688 AI127361 AA736397 AA041388 X56654 W76205 BG681002 W79210 
    AA577788 BG719690 AA041427 BG742531 BM807172 BG740639 NM_001942 AF097935 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DSG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DSG1 Expression
    About this image


    DSG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 2 entries
             Corneocytes Stratified Epidermis
     
     Epithelial Cells
             Corneocytes Stratified Epidermis
     
     Heart (Cardiovascular System)
     
     Eye (Sensory Organs)
    DSG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DSG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2633

    UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413
    Tissue specificity: Epidermis, tongue, tonsil and esophagus

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DSG1: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DSG1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dsg1a1 , 5 desmoglein 1 alpha1, 5 80.01(n)1
    81.3(a)1
      18 (11.29 cM)5
    135101  NM_010079.21  NP_034209.21 
     203108115 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    49(a)
    1 → many
    2(105751170-105769043)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    43(a)
    1 → many
    GL343207.1(3859127-3883207)
    zebrafish
    (Danio rerio)
    Actinopterygii dsg2l6
    si:ch73-74h11.16
    (see all 3)
    si:ch73-74h11.1
    (see all 3)
    23(a)
    21(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2(2392159-2424881) ENSDARG00000076426
    20(16989151-17012815) ENSDARG00000062750


    ENSEMBL Gene Tree for DSG1 (if available)
    TreeFam Gene Tree for DSG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for DSG1 gene
    DSC12  CDH42  DSG42  CDH132  CDH32  DSG22  CDH12  CDH262  
    DSC32  CDH22  DSC22  CDH152  DSG32  
    4 SIMAP similar genes for DSG1 using alignment to 3 protein entries:     DSG1_HUMAN (see all proteins):
    DSG3    DSG4    DKFZp686P23184    DSG2

    Find genes that share paralogs with DSG1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DSG1 (see all 1030)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1489568931,2
    Cuntested128910582(+) CCAAGA/GAACGA 2 E G mis10--------
    rs1506933151,2
    C--25760998(+) AAGAG-/TCAGAT
    TTCACTATT
    TTGCC
    1 -- int10--------
    rs1121490251,2
    C--25792140(+) TCACTAA/-GTTTA 1 -- ut311Minor allele frequency- -:0.50CSA 2
    rs1871353651,2
    --28888340(+) AAATCC/TTCAAT 1 -- us2k10--------
    rs110816871,2
    C,F,H--28888394(+) GAGAAC/TATGTT 1 -- us2k117Minor allele frequency- T:0.40NS EA NA WA CSA 761
    rs751525001,2
    C,F--28888503(+) ATTAAC/TAAATT 1 -- us2k11Minor allele frequency- T:0.06WA 118
    rs1907582741,2
    --28888512(+) TTCCCC/TCTCCC 1 -- us2k10--------
    rs798483651,2
    F--28888530(+) TTAACA/TTCGTA 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1836097831,2
    --28888533(+) ACATCA/GTATTG 1 -- us2k10--------
    rs1398146801,2
    C--28888650(+) GTCATA/GTAGGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DSG1 (28898052 - 28937394 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DSG1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521618CNV Loss19592680
    nsv909516CNV Gain21882294

    Human Gene Mutation Database (HGMD): DSG1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DSG1
    DNA2.0 Custom Variant and Variant Library Synthesis for DSG1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 125670   
    OMIM disorders: 148700  615508  
    UniProtKB/Swiss-Prot: DSG1_HUMAN, Q02413
  • Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1) [MIM:148700]: A dermatological disorder
    characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the
    palms, running the length of each finger. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE)
    [MIM:615508]: A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical
    features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the
    fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally,
    patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with
    marked metabolic wasting. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for DSG1 (see all 27):    
    About MalaCards
    erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige    pemphigus    pemphigus vegetans    keratosis palmoplantaris striata i, ad
    herpetiform pemphigus    impetigo    pemphigus vulgaris    bullous impetigo
    pemphigus foliaceus    mixed connective tissue disease    retinitis pigmentosa 38    silicosis
    seborrheic keratosis    paraneoplastic pemphigus    subcorneal pustular dermatosis    connective tissue disease
    herpes gestationis    dendritic cell sarcoma    focal palmoplantar keratoderma    follicular dendritic cell sarcoma

    6 diseases from the University of Copenhagen DISEASES database for DSG1:
    Palmoplantar keratosis     Dermatitis     Netherton syndrome     Hypersensitivity reaction type II disease
    Ritter's disease     Epidermolysis bullosa acquisita

    Find genes that share disorders with DSG1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DSG1 gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pemphigus foliaceus 98.4 192 9204055 (4), 15196262 (3), 9424092 (3), 10882765 (3) (see all 99)
    pemphigus 97.2 138 17263817 (5), 7543545 (4), 10021453 (3), 10233237 (3) (see all 85)
    pemphigus vulgaris 96.9 123 9406813 (5), 9204055 (3), 10951143 (2), 12174096 (2) (see all 82)
    acantholysis 93.9 17 17452959 (1), 1657105 (1), 16014554 (1), 17058228 (1) (see all 15)
    bullous impetigo 85.1 4 17075192 (1), 17657525 (1), 11062541 (1), 18093494 (1)
    keratoderma palmoplantar 84.1 16 19018793 (2), 11260246 (1), 11982762 (1), 18288204 (1) (see all 12)
    pemphigoid bullous 82.4 12 18833046 (2), 8829509 (1), 9174592 (1), 15242953 (1) (see all 10)
    staphylococcal scalded skin syndrome 80.8 3 17075192 (1), 11062541 (1), 14625102 (1)
    subcorneal pustular dermatosis 80.5 3 18092844 (1)
    skin diseases bullous 76.7 6 15196262 (1), 17056584 (1), 16972006 (1)

    Genetic Association Database (GAD): DSG1
    Human Genome Epidemiology (HuGE) Navigator: DSG1 (5 documents)

    Export disorders for DSG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DSG1 gene, integrated from 10 sources (see all 414):
    (articles sorted by number of sources associating them with DSG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tunisian endemic pemphigus foliaceus is associated with desmoglein 1 gene polymorphism. (PubMed id 12209366)1, 4, 9 Ayed M.B....Tron F. (Genes Immun. 2002)
    2. Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). (PubMed id 1889810)1, 3, 9 Arnemann J....Buxton R.S. (Genomics 1991)
    3. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. (PubMed id 23974871)1, 2 Samuelov L....Sprecher E. (Nat. Genet. 2013)
    4. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. (PubMed id 20208534)1, 4 Rothenberg M.E....Hakonarson H. (Nat. Genet. 2010)
    5. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)1, 2 Ramachandran P....Loo J.A. (J. Proteome Res. 2006)
    6. A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease. (PubMed id 11294567)1, 4 Martel P....Tron F. (Genes Immun. 2001)
    7. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. (PubMed id 10332028)1, 2 Rickman L.... Buxton R.S. (Hum. Mol. Genet. 1999)
    8. Structural analysis and expression of human desmoglein: a cadherin- like component of the desmosome. (PubMed id 1770008)1, 2 Nilles L.A....Green K.J. (J. Cell Sci. 1991)
    9. Desmosomal glycoprotein DGI, a component of intercellular desmosome junctions, is related to the cadherin family of cell adhesion molecules. (PubMed id 1711210)1, 2 Wheeler G.N.... Magee A.I. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    10. Coordinated expression of desmoglein 1 and desmocollin 1 regulates intercellular adhesion. (PubMed id 15606501)1, 9 Getsios S....Green K.J. ( research in biological diversity 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1828 HGNC: 3048 AceView: DSG1 Ensembl:ENSG00000134760 euGenes: HUgn1828
    ECgene: DSG1 Kegg: 1828 H-InvDB: DSG1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DSG1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DSG1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DSG1 gene:
    Search GeneIP for patents involving DSG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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