KDSR (3-ketodihydrosphingosine reductase)

2003-02-01  

Identity

HGNC
LOCATION
18q21.33
LOCUSID
ALIAS
DHSR,EKVP4,FVT1,SDR35C1
FUSION GENES

Other Information

Locus ID:

NCBI: 2531
MIM: 136440
HGNC: 4021
Ensembl: ENSG00000119537

Variants:

dbSNP: 2531
ClinVar: 2531
TCGA: ENSG00000119537
COSMIC: KDSR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119537ENST00000326575Q06136
ENSG00000119537ENST00000591902K7ERC8
ENSG00000119537ENST00000592327K7EQS7
ENSG00000119537ENST00000644624A0A2R8YF70
ENSG00000119537ENST00000645214Q06136
ENSG00000119537ENST00000645214A0A024R292
ENSG00000119537ENST00000646205A0A2R8Y7U3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Ceramide biosynthesisKEGGM00094
Sphingosine biosynthesisKEGGM00099
Ceramide biosynthesisKEGGhsa_M00094
Sphingosine biosynthesisKEGGhsa_M00099
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
208555652010Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.27
153283382004FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane.25
285756522017Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.14
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6
167115412006[Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion].3
183954452008Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders.3
190197742008Expression of the follicular lymphoma variant translocation 1 gene in diffuse large B-cell lymphoma correlates with subtype and clinical outcome.3
174204652007A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy.0
304672042019Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.0

Citation

Dessen P

KDSR (3-ketodihydrosphingosine reductase)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/48/kdsr-(3-ketodihydrosphingosine-reductase)