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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 2
  • EC 1.1.1.102 4
  • 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 Spinal Muscular Atrophy. Among its related pathways are Sphingolipid metabolism and Metabolism. GO annotations related to this gene include oxidoreductase activity and 3-dehydrosphinganine reductase activity. An important paralog of this gene is DHRS7.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G063365 1.8 FANTOM5 Ensembl ENCODE 21.9 +0.8 758 3.5 PKNOX1 FOXA2 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS KDSR ENSG00000267390 GC18M063328
GH18G063311 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.1 +51.1 51119 10.6 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 ZNF302 ZNF416 ZNF143 KDSR BCL2 GC18M063314
GH18G063334 1.3 Ensembl ENCODE dbSUPER 9.6 +30.8 30801 3.5 MXI1 FOXA2 SAP130 JUN MAX CEBPG TEAD3 GATA3 FOS MAFK KDSR GC18M063328 ENSG00000267390
GH18G063235 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.9 +129.8 129832 3.8 TBP PKNOX1 YY1 GATA2 ZNF366 CBX5 ZSCAN5C RCOR1 EGR2 USF2 BCL2 KDSR VPS4B ENSG00000283125 GC18M063314
GH18G063298 1.2 Ensembl ENCODE dbSUPER 7 +67.4 67419 3.8 ZNF146 TBL1XR1 ZSCAN4 EBF1 ZBTB40 RELA ZNF664 POLR2A GATA2 MAFK BCL2 KDSR GC18M063314 ENSG00000283125
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000104511 510 2801 HNRNPUL1 PKNOX1 FOXA2 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143

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

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

Gene Ontology (GO) - Molecular Function for KDSR Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for KDSR

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KDSR

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KDSR gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2
mitochondrion 1
lysosome 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,IEA 19946888
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.

Gene Ontology (GO) - Biological Process for KDSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006666 3-keto-sphinganine metabolic process IDA 15364918
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0055114 oxidation-reduction process IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KDSR

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KDSR Gene



Protein tissue co-expression partners for KDSR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KDSR Gene:

KDSR

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.

Evidence on tissue expression from TISSUES for KDSR Gene

  • Nervous system(4.9)
  • Heart(4.3)
genes like me logo Genes that share expression patterns with KDSR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia KDSR 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia KDSR 34 35
  • 89.75 (n)
oppossum
(Monodelphis domestica)
Mammalia KDSR 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KDSR 34 35
  • 88.65 (n)
mouse
(Mus musculus)
Mammalia Kdsr 34 16 35
  • 88.19 (n)
rat
(Rattus norvegicus)
Mammalia Kdsr 34
  • 87.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KDSR 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves KDSR 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KDSR 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kdsr 34
  • 75.34 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16086 34
zebrafish
(Danio rerio)
Actinopterygii kdsr 34 35
  • 73.57 (n)
zgc55947 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003984 34
  • 50.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10425 34 35
  • 49.05 (n)
worm
(Caenorhabditis elegans)
Secernentea Y37E11AM.3 35
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TSC10 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G19200 34
  • 45.61 (n)
rice
(Oryza sativa)
Liliopsida Os02g0701900 34
  • 48.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
Species where no ortholog for KDSR was found in the sources mined by GeneCards:
  • 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

(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
rs1000067468 -- 63,368,676(+) GAATA(G/T)TTAGG upstream-variant-2KB
rs1000096851 -- 63,368,937(+) CATCC(A/G)TCTTT upstream-variant-2KB
rs1000157005 -- 63,349,813(+) TTGGA(A/G)CACAG intron-variant
rs1000159108 -- 63,358,128(+) CCACT(A/G)CACTC intron-variant
rs1000174184 -- 63,350,067(+) ACTGG(A/G)GGTCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv1455992 CNV insertion 17803354
esv2657702 CNV deletion 23128226
esv2671992 CNV deletion 23128226
esv2717201 CNV deletion 23290073
esv3305878 CNV mobile element insertion 20981092
esv3325049 CNV insertion 20981092
esv3642768 CNV loss 21293372
esv3642769 CNV gain 21293372
esv3642770 CNV loss 21293372
nsv1066552 CNV gain 25217958
nsv577096 CNV loss 21841781

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)

Relevant External Links for KDSR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KDSR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
spinal muscular atrophy
  • kugelberg-welander disease
muscular atrophy
  • amyotrophia
lymphoma
  • lymphoid cancer
- 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 22 64
  2. 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 22 64
  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 22 64
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64
  5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 46 64

Products for KDSR Gene

Sources for KDSR Gene

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