DEGS1 (delta 4-desaturase, sphingolipid 1)

2016-10-01  

Identity

HGNC
LOCATION
1q42.11
LOCUSID
ALIAS
DEGS,DEGS-1,DES1,Des-1,FADS7,HLD18,MIG15,MLD
FUSION GENES

Other Information

Locus ID:

NCBI: 8560
MIM: 615843
HGNC: 13709
Ensembl: ENSG00000143753

Variants:

dbSNP: 8560
ClinVar: 8560
TCGA: ENSG00000143753
COSMIC: DEGS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143753ENST00000323699O15121
ENSG00000143753ENST00000323699A0A024R3P1
ENSG00000143753ENST00000391877O15121
ENSG00000143753ENST00000391877A0A024R3P1
ENSG00000143753ENST00000415210E7EMA0

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Ceramide biosynthesisKEGGM00094
Sphingosine biosynthesisKEGGM00099
Ceramide biosynthesisKEGGhsa_M00094
Sphingosine biosynthesisKEGGhsa_M00099
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661
Neutrophil degranulationREACTOMER-HSA-6798695

References

Pubmed IDYearTitleCitations
119375142002Identification and characterization of a sphingolipid delta 4-desaturase family.70
172830682007Involvement of dihydroceramide desaturase in cell cycle progression in human neuroblastoma cells.62
219148082011Dihydroceramide-based response to hypoxia.27
264948582015The Sphingosine Kinase 2 Inhibitor ABC294640 Reduces the Growth of Prostate Cancer Cells and Results in Accumulation of Dihydroceramides In Vitro and In Vivo.25
201051372010Dihydroceramide desaturase activity is modulated by oxidative stress.24
248755372014Inhibition of dihydroceramide desaturase activity by the sphingosine kinase inhibitor SKI II.18
232671302013Dihydroceramide desaturase knockdown impacts sphingolipids and apoptosis after photodamage in human head and neck squamous carcinoma cells.11
226286192012Silencing of enzymes involved in ceramide biosynthesis causes distinct global alterations of lipid homeostasis and gene expression.9
273649522016Dihydroceramide-desaturase-1-mediated caspase 9 activation through ceramide plays a pivotal role in palmitic acid-induced HepG2 cell apoptosis.7
306203382019DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.7

Citation

Dessen P

DEGS1 (delta 4-desaturase, sphingolipid 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56005/degs1