AutismKB 2.0

Annotation Details for DSG1


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Basic Information Top
Gene Symbol:DSG1 ( CDHF4,DG1,DSG,PPKS1,SPPK1 )
Gene Full Name: desmoglein 1
Band: 18q12.1
Quick LinksEntrez ID:1828; OMIM: 125670; Uniprot ID:DSG1_HUMAN; ENSEMBL ID: ENSG00000134760; HGNC ID: 3048
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001533TAS-cornified envelope-
GO:0005829TAS-cytosol-
GO:0005886TAS-plasma membrane-
GO:0005911IDAcolocalizes_withcell-cell junction7983064
GO:0009898IDA-cytoplasmic side of plasma membrane7983064
GO:0016021IEA-integral component of membrane-
GO:0016324IEA-apical plasma membrane-
GO:0016328IEA-lateral plasma membrane-
GO:0030057NAS-desmosome1711210
GO:0031012IDA-extracellular matrix23979707
GO:0070062IDA-extracellular exosome23376485
GO:0101003TAS-ficolin-1-rich granule membrane-
GO ID Evidence Qualifier GO_term References
GO:0005509NAS-calcium ion binding1770008
GO:0005515IPI-protein binding24965446
GO:0015643NAS-toxic substance binding12582396
GO:0045295IPI-gamma-catenin binding7983064
GO ID Evidence Qualifier GO_term References
GO:0007043NAS-cell-cell junction assembly12485422
GO:0007156IEA-homophilic cell adhesion via plasma membrane adhesion molecules-
GO:0016337NAS-single organismal cell-cell adhesion1711210
GO:0016339NAS-calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules1770008
GO:0031424TAS-keratinization-
GO:0032570IEA-response to progesterone-
GO:0043312TAS-neutrophil degranulation-
GO:0050821IDA-protein stabilization7983064
GO:0060135IEA-maternal process involved in female pregnancy-
GO:0070268TAS-cornification-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
DSG1DSC11081579606214 Reconstituted Complex
DSG1DSC11081629606214 Reconstituted Complex
DSG1DSC21081589443898 Affinity Capture-Western
DSG1DSC21081629443898 Affinity Capture-Western
JUPDSG11099319606214 Reconstituted Complex
JUPDSG11081629606214 Reconstituted Complex
PKP1DSG11081629606214 Reconstituted Complex
PKP1DSG11113349606214 Reconstituted Complex
PKP2DSG110816211790773 Affinity Capture-Western; Two-hybrid
PKP2DSG111133511790773 Affinity Capture-Western; Two-hybrid
PKP3DSG111635712707304 Affinity Capture-Western; Two-hybrid
PKP3DSG110816212707304 Affinity Capture-Western; Two-hybrid
SSSCA1DSG110816217353931 Affinity Capture-MS
SSSCA1DSG111578817353931 Affinity Capture-MS
KHDRBS2DSG110816217643375 Affinity Capture-MS
KHDRBS2DSG112843617643375 Affinity Capture-MS
USP53DSG110816219615732 Affinity Capture-MS
USP53DSG112002019615732 Affinity Capture-MS
OTUD4DSG110816219615732 Affinity Capture-MS
OTUD4DSG112011219615732 Affinity Capture-MS
USP1DSG111324119615732 Affinity Capture-MS
USP1DSG110816219615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:94930
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018