Version 5.4
Homo sapiens Gene: KDSR
Summary
InnateDB Gene IDBG-4373.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KDSR
Gene Name 3-ketodihydrosphingosine reductase
Synonyms DHSR; FVT1; SDR35C1
Species Homo sapiens
Ensembl Gene ENSG00000119537
Encoded Proteins
IDBP-4375
3-ketodihydrosphingosine reductase
IDBP-294337
3-ketodihydrosphingosine reductase
IDBP-727951
IDBP-727648
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:63327726-63367510
Strand Reverse strand
Band q21.33
Transcripts
ENST00000326575 ENSP00000312939
ENST00000406396 ENSP00000385083
ENST00000589592
ENST00000585456
ENST00000585750
ENST00000588089
ENST00000592327 ENSP00000467962
ENST00000586791
ENST00000591902 ENSP00000468203
ENST00000587292
ENST00000589530
ENST00000590056
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016491 oxidoreductase activity
GO:0047560 3-dehydrosphinganine reductase activity
Biological Process
GO:0006665 sphingolipid metabolic process
GO:0006666 3-keto-sphinganine metabolic process
GO:0008152 metabolic process
GO:0030148 sphingolipid biosynthetic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000009905
View Gene Order
ENSBTAG00000007723
Not yet available
Pathways
NETPATH
REACTOME
REACT_115810
Sphingolipid de novo biosynthesis pathway
REACT_19323
Sphingolipid metabolism pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_111217
Metabolism pathway
KEGG
hsa00600
Sphingolipid metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.595801 Hs.74050
RefSeq NM_002035 XM_006722433
HUGO
OMIM
CCDS CCDS11982
HPRD 00640
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca