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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 1.1.1.102 4
  • Member 1 2
  • DHSR 3

External Ids for KDSR Gene

Previous Symbols for KDSR Gene

  • FVT1

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

Genomic Location for KDSR Gene

Start:
63,327,726 bp from pter
End:
63,367,510 bp from pter
Size:
39,785 bases
Orientation:
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

Regulatory Elements for KDSR Gene

Proteins for KDSR Gene

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

    Protein Symbol:
    Q06136-KDSR_HUMAN
    Recommended name:
    3-ketodihydrosphingosine reductase
    Protein Accession:
    Q06136
    Secondary Accessions:
    • B2R5Y1
    • B4DMX0

    Protein attributes for KDSR Gene

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

    Alternative splice isoforms for KDSR Gene

    UniProtKB/Swiss-Prot:

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

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

UniProtKB/Swiss-Prot:

KDSR_HUMAN
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.:
    • Q06136
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

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

COMPARTMENTS
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
3-Dehydrosphinganine
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6
Sphinganine
  • 2-amino-D-erythro-1,3-Octadecanediol
764-22-7
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:

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: - - - -
SP3:
SP4: -
SP5: -
SP6:

Relevant External Links for KDSR Gene

GeneLoc Exon Structure for
KDSR
ECgene alternative splicing isoforms for
KDSR

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

Q06136-KDSR_HUMAN
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

Orthologs for KDSR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KDSR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KDSR 36
  • 100 (n)
  • 100 (a)
KDSR 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KDSR 36
  • 88.65 (n)
  • 93.12 (a)
KDSR 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KDSR 36
  • 89.75 (n)
  • 93.92 (a)
KDSR 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kdsr 36
  • 88.19 (n)
  • 92.72 (a)
Kdsr 16
Kdsr 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KDSR 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KDSR 37
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kdsr 36
  • 87.45 (n)
  • 92.72 (a)
chicken
(Gallus gallus)
Aves KDSR 37
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KDSR 37
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16086 36
tropical clawed frog
(Silurana tropicalis)
Amphibia kdsr 36
  • 75.34 (n)
  • 82.86 (a)
zebrafish
(Danio rerio)
Actinopterygii kdsr 36
  • 73.57 (n)
  • 81.85 (a)
kdsr 37
  • 75 (a)
OneToOne
zgc55947 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003984 36
  • 50.11 (n)
  • 42.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10425 36
  • 49.05 (n)
  • 38.38 (a)
CG10425 37
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y37E11AM.3 37
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TSC10 39
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G19200 36
  • 45.61 (n)
  • 37.5 (a)
rice
(Oryza sativa)
Liliopsida Os02g0701900 36
  • 48.77 (n)
  • 38.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 52 (a)
OneToOne
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

ENSEMBL:
Gene Tree for KDSR (if available)
TreeFam:
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
KDSR

Disorders for KDSR Gene

UniProtKB/Swiss-Prot

KDSR_HUMAN
  • 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.

(1) MalaCards Diseases for KDSR Gene

Search for KDSR Gene in MalaCards »

Relevant External Links for KDSR

Genetic Association Database (GAD)
KDSR
Human Genome Epidemiology (HuGE) Navigator
KDSR
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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