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Aliases for KDSR Gene

Aliases for KDSR Gene

  • 3-Ketodihydrosphingosine Reductase 2 3
  • 3-Dehydrosphinganine Reductase 2 3 4
  • FVT1 3 4 6
  • Short Chain Dehydrogenase/Reductase Family 35C Member 1 3 4
  • Follicular Lymphoma Variant Translocation 1 2 3
  • Follicular Variant Translocation Protein 1 3 4
  • KDS Reductase 3 4
  • SDR35C1 3 4
  • FVT-1 3 4
  • Short Chain Dehydrogenase/Reductase Family 35C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 35C 2
  • EC 4
  • Member 1 2
  • DHSR 3

External Ids for KDSR Gene

Previous HGNC Symbols for KDSR Gene

  • FVT1

Previous GeneCards Identifiers for KDSR Gene

  • GC18M059145
  • GC18M060994
  • GC18M057693

Summaries for KDSR Gene

Entrez Gene Summary for KDSR 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 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]

GeneCards Summary for KDSR Gene

KDSR (3-Ketodihydrosphingosine Reductase) is a Protein Coding gene. Diseases associated with KDSR include follicular lymphoma. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include 3-dehydrosphinganine reductase activity. An important paralog of this gene is HSD11B2.

UniProtKB/Swiss-Prot for KDSR Gene

  • Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS)

Gene Wiki entry for KDSR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KDSR Gene

Genomics for KDSR Gene

Regulatory Elements for KDSR Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KDSR Gene

63,327,726 bp from pter
63,367,510 bp from pter
39,785 bases
Minus strand

Genomic View for KDSR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KDSR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KDSR Gene

Proteins for KDSR Gene

  • Protein details for KDSR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    3-ketodihydrosphingosine reductase
    Protein Accession:
    Secondary Accessions:
    • B2R5Y1
    • B4DMX0

    Protein attributes for KDSR Gene

    332 amino acids
    Molecular mass:
    36187 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KDSR Gene


neXtProt entry for KDSR Gene

Proteomics data for KDSR Gene at MOPED

Post-translational modifications for KDSR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KDSR Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KDSR Gene

Domains for KDSR Gene

Gene Families for KDSR Gene

  • SDRC3 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

Graphical View of Domain Structure for InterPro Entry



  • Q06136
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with KDSR: view

Function for KDSR Gene

Molecular function for KDSR Gene

UniProtKB/Swiss-Prot CatalyticActivity: Sphinganine + NADP(+) = 3-dehydrosphinganine + NADPH.
UniProtKB/Swiss-Prot Function: Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS)

Enzyme Numbers (IUBMB) for KDSR Gene

Gene Ontology (GO) - Molecular Function for KDSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity --
GO:0047560 3-dehydrosphinganine reductase activity IDA 15364918
genes like me logo Genes that share ontologies with KDSR: view

Phenotypes for KDSR Gene

GenomeRNAi human phenotypes for KDSR:
genes like me logo Genes that share phenotypes with KDSR: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KDSR

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for KDSR Gene

Localization for KDSR Gene

Subcellular locations from UniProtKB/Swiss-Prot for KDSR Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for KDSR Gene COMPARTMENTS Subcellular localization image for KDSR gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 4
plasma membrane 2
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KDSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space TAS 8417785
GO:0005783 endoplasmic reticulum IDA 15364918
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KDSR: view

Pathways for KDSR Gene

genes like me logo Genes that share pathways with KDSR: view

Pathways by source for KDSR Gene

UniProtKB/Swiss-Prot Q06136-KDSR_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism

Interacting Proteins for KDSR Gene

Gene Ontology (GO) - Biological Process for KDSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0006666 3-keto-sphinganine metabolic process IDA 15364918
GO:0008152 metabolic process --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with KDSR: view

Compounds for KDSR Gene

(4) HMDB Compounds for KDSR Gene

Compound Synonyms Cas Number PubMed IDs
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • Adenine-nicotinamide dinucleotide phosphate
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2-amino-D-erythro-1,3-Octadecanediol
genes like me logo Genes that share compounds with KDSR: view

Transcripts for KDSR Gene

Unigene Clusters for KDSR Gene

3-ketodihydrosphingosine reductase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KDSR

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KDSR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c
SP1: - - - -
SP2: - - - -
SP4: -
SP5: -

Relevant External Links for KDSR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KDSR Gene

mRNA expression in normal human tissues for KDSR Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KDSR Gene

SOURCE GeneReport for Unigene cluster for KDSR Gene Hs.74050

mRNA Expression by UniProt/SwissProt for KDSR Gene

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. Higher expression in some T-cell malignancies and PHA-stimulated lymphocytes
genes like me logo Genes that share expressions with KDSR: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KDSR Gene

Orthologs for KDSR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KDSR Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KDSR 35
  • 100 (n)
  • 100 (a)
  • 100 (a)
(Bos Taurus)
Mammalia KDSR 35
  • 88.65 (n)
  • 93.12 (a)
  • 91 (a)
(Canis familiaris)
Mammalia KDSR 35
  • 89.75 (n)
  • 93.92 (a)
  • 88 (a)
(Mus musculus)
Mammalia Kdsr 35
  • 88.19 (n)
  • 92.72 (a)
Kdsr 16
Kdsr 36
  • 93 (a)
(Monodelphis domestica)
Mammalia KDSR 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia KDSR 36
  • 85 (a)
(Rattus norvegicus)
Mammalia Kdsr 35
  • 87.45 (n)
  • 92.72 (a)
(Gallus gallus)
Aves KDSR 36
  • 85 (a)
(Anolis carolinensis)
Reptilia KDSR 36
  • 71 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16086 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kdsr 35
  • 75.34 (n)
  • 82.86 (a)
(Danio rerio)
Actinopterygii kdsr 35
  • 73.57 (n)
  • 81.85 (a)
kdsr 36
  • 75 (a)
zgc55947 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003984 35
  • 50.11 (n)
  • 42.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10425 35
  • 49.05 (n)
  • 38.38 (a)
CG10425 36
  • 35 (a)
(Caenorhabditis elegans)
Secernentea Y37E11AM.3 36
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TSC10 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G19200 35
  • 45.61 (n)
  • 37.5 (a)
(Oryza sativa)
Liliopsida Os02g0701900 35
  • 48.77 (n)
  • 38.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
Species with no ortholog for KDSR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KDSR Gene

Gene Tree for KDSR (if available)
Gene Tree for KDSR (if available)

Paralogs for KDSR Gene

Selected SIMAP similar genes for KDSR Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with KDSR: view

Variants for KDSR Gene

Sequence variations from dbSNP and Humsavar for KDSR Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs6810 -- 63,331,168(-) TCTGC(C/T)GCTGG utr-variant-3-prime
rs374617 -- 63,360,389(+) TATCA(G/T)ATTAT intron-variant
rs378164 -- 63,366,331(-) TCCAA(C/T)GCAAT intron-variant
rs389798 -- 63,366,561(-) GCGGG(G/T)AAGTG intron-variant
rs394551 -- 63,366,781(-) AGAGC(C/G)TGCGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KDSR Gene

Variant ID Type Subtype PubMed ID
esv2671992 CNV Deletion 23128226
esv2717201 CNV Deletion 23290073
esv270155 CNV Insertion 20981092
esv2657702 CNV Deletion 23128226
esv1455992 CNV Insertion 17803354

Relevant External Links for KDSR Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KDSR Gene

Disorders for KDSR Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KDSR Gene including...

Search for KDSR Gene in MalaCards »


  • Note=A chromosomal aberration involving KDSR is a cause of follicular lymphoma; also known as type II chronic lymphatic leukemia. Translocation t(2;18)(p11;q21) with a Ig J kappa chain region.

Relevant External Links for KDSR

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with KDSR: view

Publications for KDSR Gene

  1. FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma. (PMID: 8417785) Rimokh R. … Magaud J.-P. (Blood 1993) 2 3 4 23
  2. FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane. (PMID: 15328338) Kihara A. … Igarashi Y. (J. Biol. Chem. 2004) 2 3 4 23
  3. A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. (PMID: 17420465) Krebs S. … FAPrster M. (Proc. Natl. Acad. Sci. U.S.A. 2007) 2 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for KDSR Gene

Sources for KDSR Gene

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