Gene Gene information from NCBI Gene database.
Entrez ID 2531
Gene name 3-ketodihydrosphingosine reductase
Gene symbol KDSR
Synonyms (NCBI Gene)
DHSREKVP4FVT1SDR35C1
Chromosome 18
Chromosome location 18q21.33
Summary The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearr
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs752611378 C>T Pathogenic Synonymous variant, intron variant, coding sequence variant
rs1114167450 CTT>- Pathogenic 5 prime UTR variant, inframe indel, coding sequence variant
rs1114167451 T>G Pathogenic Splice acceptor variant
rs1114167452 T>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
599
miRTarBase ID miRNA Experiments Reference
MIRT019765 hsa-miR-375 Microarray 20215506
MIRT022479 hsa-miR-124-3p Microarray 18668037
MIRT031566 hsa-miR-16-5p Proteomics 18668040
MIRT049650 hsa-miR-92a-3p CLASH 23622248
MIRT042461 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005615 Component Extracellular space TAS 8417785
GO:0005783 Component Endoplasmic reticulum IDA 15364918
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
136440 4021 ENSG00000119537
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q06136
Protein name 3-ketodihydrosphingosine reductase (KDS reductase) (EC 1.1.1.102) (3-dehydrosphinganine reductase) (Follicular variant translocation protein 1) (FVT-1) (Short chain dehydrogenase/reductase family 35C member 1)
Protein function Catalyzes the reduction of 3'-oxosphinganine (3-ketodihydrosphingosine/KDS) to sphinganine (dihydrosphingosine/DHS), the second step of de novo sphingolipid biosynthesis. {ECO:0000269|PubMed:19141869, ECO:0000269|PubMed:28575652, ECO:0000269|Pub
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 33 232 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined. Highest expression in placenta. High expression in lung, kidney, stomach and small intestine, low expression in heart, spleen and skeletal muscle. Weakly expressed in normal hematopoietic tissues. Hig
Sequence
Sequence length 332
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Sphingolipid metabolism
Metabolic pathways
  Sphingolipid de novo biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely pathogenic rs752611378 RCV005899742
Clear cell carcinoma of kidney Likely pathogenic rs752611378 RCV005899743
Erythrokeratodermia variabilis et progressiva 4 Likely pathogenic; Pathogenic rs751571336, rs144669389, rs1114167450, rs1114167451, rs752611378, rs1114167452 RCV003314470
RCV003993629
RCV000490805
RCV000490807
RCV000490808
RCV000490806
Sarcoma Likely pathogenic rs752611378 RCV005899744
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bernard Soulier Syndrome Associate 28774589
Epithelial Squamous Dysplasia Keratinizing Desquamative of Urinary Tract Associate 28774589
Erythrokeratoderma Reticular Associate 28774589
Ichthyosis Lamellar Associate 28774589
Leukemia Associate 34373586
Lymphoma B Cell Associate 7949096
Lymphoma Follicular Associate 19019774, 8417785
Lymphoma Large B Cell Diffuse Associate 19019774
Lymphoma T Cell Associate 8417785
Neoplasms Associate 8417785