DEGS1 (delta 4-desaturase, sphingolipid 1)

2016-10-01  

Identity

HGNC
DEGS1
LOCATION
1q42.11
LOCUSID
8560
ALIAS
DEGS,DEGS-1,DES1,Des-1,FADS7,HLD18,MIG15,MLD
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
383424362024Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism.0
383424362024Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism.0
369519442023Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.6
378906682023The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.0
369519442023Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.6
378906682023The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.0
361652222022Dihydroceramide desaturase 1 (DES1) promotes anchorage-independent survival downstream of HER2-driven glucose uptake and metabolism.2
361845162022Dihydroceramide Δ4-Desaturase 1 Is Not Involved in SARS-CoV-2 Infection.0
361652222022Dihydroceramide desaturase 1 (DES1) promotes anchorage-independent survival downstream of HER2-driven glucose uptake and metabolism.2
361845162022Dihydroceramide Δ4-Desaturase 1 Is Not Involved in SARS-CoV-2 Infection.0
338528562021Dihydroceramide desaturase regulates the compartmentalization of Rac1 for neuronal oxidative stress.8
341067482021N-(4-Hydroxyphenyl) Retinamide Suppresses SARS-CoV-2 Spike Protein-Mediated Cell-Cell Fusion by a Dihydroceramide Δ4-Desaturase 1-Independent Mechanism.4
338528562021Dihydroceramide desaturase regulates the compartmentalization of Rac1 for neuronal oxidative stress.8
341067482021N-(4-Hydroxyphenyl) Retinamide Suppresses SARS-CoV-2 Spike Protein-Mediated Cell-Cell Fusion by a Dihydroceramide Δ4-Desaturase 1-Independent Mechanism.4
306203382019DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.39

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-(delta-4-desaturase-sphingolipid-1)