full name
desmoglein 1

synonyms
CDHF4, DG1, DSG, PPKS1, SPPK1, DSG1, ENSG00000134760

HGNC
HGNC:3048

Entrez Gene
Gene:1828

ENSEMBL
ENSG00000134760

location
chr: 18
start: 28898052
stop: 28937394
strand: +

OMIM
OMIM:125670: DSG1 (Autosomal recessive inheritance)
OMIM:615508: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE
OMIM:148700: Keratosis palmoplantaris striata I, AD

transcripts
ENST00000257192.4

pathways
Apoptosis [NCBI:83060] [KEGG:hsa04210] [NCBI:1270262] [REACTOME:R-HSA-109581] [PUBMED:12189384] [PUBMED:20533903] [PUBMED:18208375] [PUBMED:22429822] [PUBMED:15218528] [PUBMED:24769728] [PUBMED:18023214] [PUBMED:25526085] [PUBMED:23070002] [PUBMED:15654015] [PUBMED:15601572] [PUBMED:14561771] [PUBMED:24278747] [PUBMED:21914490] [PUBMED:22465226] [PUBMED:21145844] [PUBMED:12838338] [PUBMED:18238895] [PUBMED:12949498] [PUBMED:18304445] [PUBMED:14737178] [PUBMED:26231733] [PUBMED:9916983] [PUBMED:14634621] [PUBMED:19770840] [PUBMED:22075987] [PUBMED:4561027] [PUBMED:20075940] [PUBMED:9894605] [PUBMED:26615431] [PUBMED:12505355] [PUBMED:11520933] [PUBMED:19148180] [PUBMED:16397578] [PUBMED:15719025] [PUBMED:15322527] [PUBMED:15725726] [PUBMED:12209154] [PUBMED:23803157]
Apoptotic cleavage of cell adhesion proteins [NCBI:1270290] [REACTOME:R-HSA-351906] [PUBMED:11500511] [PUBMED:16286477] [PUBMED:17559062]
Apoptotic cleavage of cellular proteins [NCBI:1270288] [REACTOME:R-HSA-111465] [PUBMED:17254298] [PUBMED:17599937] [PUBMED:12655297]
Apoptotic execution phase [NCBI:1270287] [REACTOME:R-HSA-75153] [PUBMED:12655297]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Formation of the cornified envelope [NCBI:1457791] [REACTOME:R-HSA-6809371] [PUBMED:15803139]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Keratinization [NCBI:1457790] [REACTOME:R-HSA-6805567] [PUBMED:18461349]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Programmed Cell Death [NCBI:1270261] [REACTOME:R-HSA-5357801] [PUBMED:25236395]
Staphylococcus aureus infection [NCBI:172846] [KEGG:hsa05150] [PUBMED:18837785] [PUBMED:16679003] [PUBMED:18544012] [PUBMED:15372083] [PUBMED:19112495] [PUBMED:16640587] [PUBMED:15561843] [PUBMED:16322743] [PUBMED:16710608] [PUBMED:16111912] [PUBMED:11361034] [PUBMED:12091905] [PUBMED:16724100] [PUBMED:16242332] [PUBMED:17132726] [PUBMED:20178484] [PUBMED:16086019] [PUBMED:12228315] [PUBMED:19503103] [PUBMED:14993252] [PUBMED:18061675] [PUBMED:17114475] [PUBMED:17848512] [PUBMED:17517597] [PUBMED:20133685] [PUBMED:18045383] [PUBMED:16184199] [PUBMED:17893203] [PUBMED:20062962] [PUBMED:15273292]