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Aliases for KDSR Gene

Aliases for KDSR Gene

  • 3-Ketodihydrosphingosine Reductase 2 3 5
  • 3-Dehydrosphinganine Reductase 2 3 4
  • 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
  • FVT1 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 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 and Lymphoma. Among its related pathways are Metabolism and Sphingolipid metabolism. GO annotations related to this gene include oxidoreductase activity and 3-dehydrosphinganine reductase activity. An important paralog of this gene is DHRS7C.

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

Enhancers for KDSR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KDSR on UCSC Golden Path with GeneCards custom track

Promoters for KDSR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KDSR on UCSC Golden Path with GeneCards custom track

Genomic Location for KDSR Gene

Chromosome:
18
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

Genes around KDSR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KDSR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    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

No data available for DME Specific Peptides for KDSR Gene

Domains & Families for KDSR Gene

Gene Families for KDSR Gene

Graphical View of Domain Structure for InterPro Entry

Q06136

UniProtKB/Swiss-Prot:

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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for KDSR

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 5
plasma membrane 2
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for KDSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space TAS 8417785
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KDSR: view

Pathways & Interactions 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:0006666 3-keto-sphinganine metabolic process IDA 15364918
GO:0008152 metabolic process IEA --
GO:0030148 sphingolipid biosynthetic process TAS --
genes like me logo Genes that share ontologies with KDSR: view

No data available for SIGNOR curated interactions for KDSR Gene

Drugs & Compounds for KDSR Gene

(1) Drugs for KDSR Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
sphinganine Pharma 0

(4) Additional Compounds for KDSR Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
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

Protein differential expression in normal tissues from HIPED for KDSR Gene

This gene is overexpressed in Retina (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KDSR: view

Protein tissue co-expression partners for KDSR Gene

- Elite partner

Primer 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
cow
(Bos Taurus)
Mammalia KDSR 35
  • 88.65 (n)
  • 93.12 (a)
KDSR 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KDSR 35
  • 89.75 (n)
  • 93.92 (a)
KDSR 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kdsr 35
  • 88.19 (n)
  • 92.72 (a)
Kdsr 16
Kdsr 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KDSR 35
  • 100 (n)
  • 100 (a)
KDSR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kdsr 35
  • 87.45 (n)
  • 92.72 (a)
oppossum
(Monodelphis domestica)
Mammalia KDSR 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KDSR 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves KDSR 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KDSR 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kdsr 35
  • 75.34 (n)
  • 82.86 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16086 35
zebrafish
(Danio rerio)
Actinopterygii kdsr 35
  • 73.57 (n)
  • 81.85 (a)
zgc55947 35
kdsr 36
  • 75 (a)
OneToOne
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)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y37E11AM.3 36
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TSC10 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G19200 35
  • 45.61 (n)
  • 37.5 (a)
rice
(Oryza sativa)
Liliopsida Os02g0701900 35
  • 48.77 (n)
  • 38.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

Paralogs for KDSR Gene

(1) 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
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

Variation tolerance for KDSR Gene

Residual Variation Intolerance Score: 15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.15% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KDSR Gene

Disorders for KDSR Gene

MalaCards: The human disease database

(4) MalaCards diseases for KDSR Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
follicular lymphoma
  • lymphoma, follicular
lymphoma
  • lymphoid cancer
spinal muscular atrophy
  • juvenile spinal muscular atrophy
muscular atrophy
  • amyotrophia nos
- elite association - COSMIC cancer census association via MalaCards
Search KDSR in MalaCards View complete list of genes associated with diseases

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 (PubMed:8417785). {ECO:0000269 PubMed:8417785}.

Relevant External Links for KDSR

Genetic Association Database (GAD)
KDSR
Human Genome Epidemiology (HuGE) Navigator
KDSR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KDSR
genes like me logo Genes that share disorders with KDSR: view

No data available for Genatlas for KDSR Gene

Publications for KDSR Gene

  1. 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 67
  2. 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
  3. 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 23
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  5. B-cell non-Hodgkin's lymphoma cell line (Karpas 1106) with complex translocation involving 18q21.3 but lacking BCL2 rearrangement and expression. (PMID: 7949096) Nacheva E. … Bevan P.C. (Blood 1994) 3 23

Products for KDSR Gene

Sources for KDSR Gene

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