KDSR (3-ketodihydrosphingosine reductase)

2003-02-01  

Identity

HGNC
KDSR
LOCATION
18q21.33
LOCUSID
2531
ALIAS
DHSR,EKVP4,FVT1,SDR35C1
FUSION GENES
Show Gene Fusions

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
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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
346868822022Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.2
346868822022Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.2
304672042019Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.15
304672042019Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.15
285756522017Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.32
285756522017Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.32
208555652010Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.40
208555652010Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.40
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.9
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.9
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.4
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.4
174204652007A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy.23

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)