Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2531
Gene name Gene Name - the full gene name approved by the HGNC.
3-ketodihydrosphingosine reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KDSR
Synonyms (NCBI Gene) Gene synonyms aliases
DHSR, EKVP4, FVT1, SDR35C1
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
136440 4021 ENSG00000119537
Protein
UniProt ID 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
MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFIT
LVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVN
CAGMAVSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGL
FGFTAYSASKFAIRGLAEALQMEVKPYNVYITVAYPPDTDTPGFAEENRTKP
LETRLISE
TTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCGMAPVTSITEGLQQVVTMGLF
RTIALFYLGSFDSIVRRCMMQREKSENADKTA
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Erythrokeratodermia Variabilis erythrokeratodermia variabilis et progressiva 4 rs1114167450, rs1114167451, rs752611378, rs1114167452 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Melanoma Melanoma N/A N/A GWAS
Metabolic Syndrome Serum omega-6 polyunsaturated fatty acid concentration in metabolic syndrome N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease 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