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DSG1 (desmoglein 1)

Identity

Alias_namesDSG
Alias_symbol (synonym)CDHF4
Other aliasDG1
EPKHE
EPKHIA
PPKS1
SPPK1
HGNC (Hugo) DSG1
LocusID (NCBI) 1828
Atlas_Id 40366
Location 18q12.1  [Link to chromosome band 18q12]
Location_base_pair Starts at 31318089 and ends at 31359246 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CTTN (11q13.3) / DSG1 (18q12.1)GATA6 (18q11.2) / DSG1 (18q12.1)CTTN 11q13.3 / DSG1 18q12.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DSG1   3048
Cards
Entrez_Gene (NCBI)DSG1  1828  desmoglein 1
AliasesCDHF4; DG1; DSG; EPKHE; 
EPKHIA; PPKS1; SPPK1
GeneCards (Weizmann)DSG1
Ensembl hg19 (Hinxton)ENSG00000134760 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134760 [Gene_View]  chr18:31318089-31359246 [Contig_View]  DSG1 [Vega]
ICGC DataPortalENSG00000134760
TCGA cBioPortalDSG1
AceView (NCBI)DSG1
Genatlas (Paris)DSG1
WikiGenes1828
SOURCE (Princeton)DSG1
Genetics Home Reference (NIH)DSG1
Genomic and cartography
GoldenPath hg38 (UCSC)DSG1  -     chr18:31318089-31359246 +  18q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DSG1  -     18q12.1   [Description]    (hg19-Feb_2009)
EnsemblDSG1 - 18q12.1 [CytoView hg19]  DSG1 - 18q12.1 [CytoView hg38]
Mapping of homologs : NCBIDSG1 [Mapview hg19]  DSG1 [Mapview hg38]
OMIM125670   148700   615508   
Gene and transcription
Genbank (Entrez)AF088042 AF097935 AK302888 BC148374 BC153001
RefSeq transcript (Entrez)NM_001942
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DSG1
Cluster EST : UnigeneHs.2633 [ NCBI ]
CGAP (NCI)Hs.2633
Alternative Splicing GalleryENSG00000134760
Gene ExpressionDSG1 [ NCBI-GEO ]   DSG1 [ EBI - ARRAY_EXPRESS ]   DSG1 [ SEEK ]   DSG1 [ MEM ]
Gene Expression Viewer (FireBrowse)DSG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1828
GTEX Portal (Tissue expression)DSG1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02413   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02413  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02413
Splice isoforms : SwissVarQ02413
PhosPhoSitePlusQ02413
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_cytoplasmic-dom    Catenin_binding_dom    Desmoglein    Desmosomal_cadherin   
Domain families : Pfam (Sanger)Cadherin (PF00028)    Cadherin_C (PF01049)   
Domain families : Pfam (NCBI)pfam00028    pfam01049   
Domain families : Smart (EMBL)CA (SM00112)  
Conserved Domain (NCBI)DSG1
DMDM Disease mutations1828
Blocks (Seattle)DSG1
SuperfamilyQ02413
Human Protein AtlasENSG00000134760
Peptide AtlasQ02413
HPRD00515
IPIIPI00025753   IPI00974353   
Protein Interaction databases
DIP (DOE-UCLA)Q02413
IntAct (EBI)Q02413
FunCoupENSG00000134760
BioGRIDDSG1
STRING (EMBL)DSG1
ZODIACDSG1
Ontologies - Pathways
QuickGOQ02413
Ontology : AmiGOcornified envelope  calcium ion binding  protein binding  cytosol  plasma membrane  cell-cell junction  cell-cell junction assembly  homophilic cell adhesion via plasma membrane adhesion molecules  cytoplasmic side of plasma membrane  toxic substance binding  integral component of membrane  apical plasma membrane  lateral plasma membrane  single organismal cell-cell adhesion  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  desmosome  extracellular matrix  keratinization  response to progesterone  neutrophil degranulation  gamma-catenin binding  protein stabilization  maternal process involved in female pregnancy  extracellular exosome  cornification  ficolin-1-rich granule membrane  
Ontology : EGO-EBIcornified envelope  calcium ion binding  protein binding  cytosol  plasma membrane  cell-cell junction  cell-cell junction assembly  homophilic cell adhesion via plasma membrane adhesion molecules  cytoplasmic side of plasma membrane  toxic substance binding  integral component of membrane  apical plasma membrane  lateral plasma membrane  single organismal cell-cell adhesion  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  desmosome  extracellular matrix  keratinization  response to progesterone  neutrophil degranulation  gamma-catenin binding  protein stabilization  maternal process involved in female pregnancy  extracellular exosome  cornification  ficolin-1-rich granule membrane  
Pathways : KEGGStaphylococcus aureus infection   
NDEx NetworkDSG1
Atlas of Cancer Signalling NetworkDSG1
Wikipedia pathwaysDSG1
Orthology - Evolution
OrthoDB1828
GeneTree (enSembl)ENSG00000134760
Phylogenetic Trees/Animal Genes : TreeFamDSG1
HOVERGENQ02413
HOGENOMQ02413
Homologs : HomoloGeneDSG1
Homology/Alignments : Family Browser (UCSC)DSG1
Gene fusions - Rearrangements
Fusion : MitelmanCTTN/DSG1 [11q13.3/18q12.1]  [t(11;18)(q13;q12)]  
Fusion: TCGACTTN 11q13.3 DSG1 18q12.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDSG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSG1
dbVarDSG1
ClinVarDSG1
1000_GenomesDSG1 
Exome Variant ServerDSG1
ExAC (Exome Aggregation Consortium)DSG1 (select the gene name)
Genetic variants : HAPMAP1828
Genomic Variants (DGV)DSG1 [DGVbeta]
DECIPHERDSG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDSG1 
Mutations
ICGC Data PortalDSG1 
TCGA Data PortalDSG1 
Broad Tumor PortalDSG1
OASIS PortalDSG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSG1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDSG1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DSG1
DgiDB (Drug Gene Interaction Database)DSG1
DoCM (Curated mutations)DSG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSG1 (select a term)
intoGenDSG1
Cancer3DDSG1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125670    148700    615508   
Orphanet22459    22461    22460    10662   
MedgenDSG1
Genetic Testing Registry DSG1
NextProtQ02413 [Medical]
TSGene1828
GENETestsDSG1
Target ValidationDSG1
Huge Navigator DSG1 [HugePedia]
snp3D : Map Gene to Disease1828
BioCentury BCIQDSG1
ClinGenDSG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1828
Chemical/Pharm GKB GenePA27501
Clinical trialDSG1
Miscellaneous
canSAR (ICR)DSG1 (select the gene name)
Probes
Litterature
PubMed96 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSG1
EVEXDSG1
GoPubMedDSG1
iHOPDSG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:59:56 CEST 2017

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