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KDSR Gene

protein-coding   GIFtS: 56
GCID: GC18M060994

3-Ketodihydrosphingosine Reductase

(Previous name: follicular lymphoma variant translocation 1)
(Previous symbol: FVT1)
  See KDSR-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
3-Ketodihydrosphingosine Reductase1 2     Member 11
FVT11 2 3 5     Short Chain Dehydrogenase/Reductase Family 35C1
3-Dehydrosphinganine Reductase1 2 3     DHSR2
Follicular Lymphoma Variant Translocation 11 2     SDR35C12
Follicular Variant Translocation Protein 12 3     Short Chain Dehydrogenase/Reductase Family 35C, Member 12
FVT-12 3     EC 1.1.1.1023
KDS Reductase2 3     

External Ids:    HGNC: 40211   Entrez Gene: 25312   Ensembl: ENSG000001195377   OMIM: 1364405   UniProtKB: Q061363   

Export aliases for KDSR gene to outside databases

Previous GC identifers: GC18M059145 GC18M057693


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include 3-dehydrosphinganine reductase activity. An important paralog of this gene is SDR9C7.

UniProtKB/Swiss-Prot: KDSR_HUMAN, Q06136
Function: Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS)

Gene Wiki entry for KDSR (3-dehydrosphinganine reductase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KDSR gene promoter:
         STAT5B   GATA-3   STAT4   STAT1beta   STAT5A   HNF-4alpha2   FOXL1   HNF-4alpha1   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKDSR promoter sequence
   Search Chromatin IP Primers for KDSR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KDSR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21.3   Ensembl cytogenetic band:  18q21.33   HGNC cytogenetic band: 18q21

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

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M060994:  view genomic region     (about GC identifiers)

Start:
60,994,959 bp from pter      End:
61,034,743 bp from pter
Size:
39,785 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KDSR_HUMAN, Q06136 (See protein sequence)
Recommended Name: 3-ketodihydrosphingosine reductase precursor  
Size: 332 amino acids; 36187 Da
Secondary accessions: B2R5Y1

Explore the universe of human proteins at neXtProt for KDSR: NX_Q06136

Explore proteomics data for KDSR at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KDSR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002026.1  
    ENSEMBL proteins: 
     ENSP00000385083   ENSP00000468203   ENSP00000312939   ENSP00000467962  
    Reactome Protein details: Q06136

    KDSR Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for KDSR 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRC3: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

    4 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q06136

    ProtoNet protein and cluster: Q06136

    2 Blocks protein domains:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature


    UniProtKB/Swiss-Prot: KDSR_HUMAN, Q06136
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    Find genes that share domains with KDSR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KDSR_HUMAN, Q06136
    Function: Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS)
    Catalytic activity: Sphinganine + NADP(+) = 3-dehydrosphinganine + NADPH

         Enzyme Number (IUBMB): EC 1.1.1.1021

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity ----
    GO:00475603-dehydrosphinganine reductase activity IDA15364918
         
    Find genes that share ontologies with KDSR           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for KDSR:
     Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KDSR
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    miRNA
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    miRTarBase miRNAs that target KDSR:
    hsa-mir-16-5p (MIRT031566), hsa-mir-375 (MIRT019765), hsa-mir-124-3p (MIRT022479), hsa-mir-92a-3p (MIRT049650), hsa-mir-423-3p (MIRT042461)

    Block miRNA regulation of human, mouse, rat KDSR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KDSR (see all 44):
    hsa-miR-3685 hsa-miR-562 hsa-miR-300 hsa-miR-15a hsa-miR-503 hsa-miR-374a hsa-miR-424 hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidKDSR 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KDSR

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KDSR

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDSR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KDSR_HUMAN, Q06136: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular4
    plasma membrane2
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space TAS8417785
    GO:0005783endoplasmic reticulum IDA15364918
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with KDSR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KDSR About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Sphingolipid de novo biosynthesis0.46
    Sphingolipid metabolism0.61
    Sphingolipid Metabolism0.42
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3ceramide de novo biosynthesis
    ceramide de novo biosynthesis


    Find genes that share SuperPaths with KDSR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for KDSR
        Sphingolipid Metabolism
    ceramide de novo biosynthesis


    1 Reactome Pathway for KDSR
        Sphingolipid de novo biosynthesis


    2 Kegg Pathways  (Kegg details for KDSR):
        Sphingolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: KDSR_HUMAN, Q06136
    Pathway: Lipid metabolism; sphingolipid metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KDSR
    Interactions:

        Search GeneGlobe Interaction Network for KDSR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KDSR (ENSP000003850834) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACER3ENSP000002785444STRING: ENSP00000278544
    SPHK1ENSP000003136814STRING: ENSP00000313681
    SPHK2ENSP000002452224STRING: ENSP00000245222
    SPTLC1ENSP000002625544STRING: ENSP00000262554
    SPTLC2ENSP000002164844STRING: ENSP00000216484
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:00066663-keto-sphinganine metabolic process IDA15364918
    GO:0008152metabolic process ----
    GO:0030148sphingolipid biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with KDSR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KDSR

    4 HMDB Compounds for KDSR    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Sphinganine2-amino-D-erythro-1,3-Octadecanediol (see all 13)764-22-7--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KDSR gene: 
    NM_002035.2  

    Unigene Cluster for KDSR:

    3-ketodihydrosphingosine reductase
    Hs.74050  [show with all ESTs]
    Unigene Representative Sequence: NM_002035
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406396(uc010dpw.3 uc010xem.2) ENST00000586791 ENST00000591902
    ENST00000588089 ENST00000589592 ENST00000326575 ENST00000585750 ENST00000592327
    ENST00000589530 ENST00000585456 ENST00000587292 ENST00000590056
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KDSR (see all 44):
    hsa-miR-3685 hsa-miR-562 hsa-miR-300 hsa-miR-15a hsa-miR-503 hsa-miR-374a hsa-miR-424 hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidKDSR 3' UTR sequence
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat KDSR
      QuantiFast Probe-based Assays in human, mouse, rat KDSR

    Additional mRNA sequence: 

    AF086045.1 AK025120.1 AK093874.1 AK297670.1 AK312360.1 BT006782.1 X63657.1 

    13 DOTS entries:

    DT.317085  DT.92437163  DT.428248  DT.92062831  DT.97816320  DT.70105324  DT.100801515  DT.100801521 
    DT.40278781  DT.95375235  DT.75126660  DT.95103117  DT.100841662 

    Selected AceView cDNA sequences (see all 251):

    AI376037 BX370283 AA400780 BU165005 BC008797 AK093874 BM979494 AF086045 
    AA745021 AA069896 BX448427 BF593778 N30152 AA047249 BE301748 AU121524 
    CD516284 AA099731 CR594682 AI418119 CD676126 AI754753 AA099730 AA226862 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KDSR (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c
    SP1:        -                             -                 -     -                                       
    SP2:                                      -                 -     -                 -                     
    SP3:                                                                                                      
    SP4:        -                                                                                             
    SP5:                                                              -                                       


    ECgene alternative splicing isoforms for KDSR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KDSR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KDSR Expression
    About this image

    KDSR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KDSR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.74050

    UniProtKB/Swiss-Prot: KDSR_HUMAN, Q06136
    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

        Custom PCR Arrays for KDSR
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    QuantiFast Probe-based Assays in human, mouse, rat KDSR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDSR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KDSR gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kdsr1 , 5 3-ketodihydrosphingosine reductase1, 5 88.19(n)1
    92.72(a)1
      1 (49.99 cM)5
    707501  NM_027534.21  NP_081810.11 
     1067204105 
    chicken
    (Gallus gallus)
    Aves KDSR6
    3-ketodihydrosphingosine reductase
    85(a)
    1 ↔ 1
    2(67898884-67917107)
    lizard
    (Anolis carolinensis)
    Reptilia KDSR6
    3-ketodihydrosphingosine reductase
    71(a)
    1 ↔ 1
    GL343247.1(2019994-2045752)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.160862 Xenopus laevis transcribed sequence with moderate similarity more 76.29(n)    CF288317.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc559472 similar to follicular lymphoma variant translocation more 76.07(n)   394114  BC044552.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG104251 CG10425 49.05(n)
    38.38(a)
      43043  NM_143106.4  NP_651363.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y37E11AM.36
    Protein Y37E11AM.3 (Y37E11AM.3) mRNA, complete cds...
    37(a)
    1 ↔ 1
    IV(3715780-3722790) WBGene00021367
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G192001 AT5G19200 45.61(n)
    37.5(a)
      832040  NM_121925.3  NP_197421.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g07019001 Os02g0701900 48.77(n)
    38.6(a)
      4330439  NM_001054381.1  NP_001047846.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KDSR gene
    SDR9C72  DHRS92  HSD11B22  HSD17B62  HSD17B22  BDH12  RDH162  RDH82  
    DHRS7B2  DHRS72  HSD17B12  DHRS7C2  RDH52  
    1 SIMAP similar gene for KDSR using alignment to 4 protein entries:     KDSR_HUMAN (see all proteins):
    DHRS4L2

    Find genes that share paralogs with KDSR           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KDSR (see all 819)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs563278371,2
    C--57702838(+) TATAT-/GTGA  
            
    ATATA
    1 -- int10--------
    rs1393836351,2
    --57702841(+) TGTGA-/ATATATA 1 -- int10--------
    rs105679801,2
    C--57707635(+) CCTGG-/CCAA  
            
    CATGG
    1 -- int10--------
    rs113352691,2
    C,F--57713997(+) AAAAA-/A/AAA 
            
    GTATC
    2 -- int1 cds1 trp32NA 4
    rs359270211,2
    C--57734622(+) ACTCT-/ATGTTTA 1 -- us2k10--------
    rs2020808581,2
    C--57734622(+) ACTCTA/GTGTTT 1 -- us2k10--------
    rs1840624801,2
    --60850460(+) GTTTAC/TGAACT 1 -- ds50010--------
    rs1416026091,2
    --60850481(+) GAGGCA/TTGTTC 1 -- ds50010--------
    rs1459975501,2
    C--60850525(+) ATCAGC/GATCTG 1 -- ds50010--------
    rs1511863191,2
    --60850593(+) GTATAA/GAAAAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KDSR (60994959 - 61034743 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KDSR:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671992CNV Deletion23128226
    esv2657702CNV Deletion23128226
    esv2717201CNV Deletion23290073
    esv270155CNV Insertion20981092
    esv1455992CNV Insertion17803354

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KDSR
    DNA2.0 Custom Variant and Variant Library Synthesis for KDSR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 136440    OMIM disorders: --

    UniProtKB/Swiss-Prot: KDSR_HUMAN, Q06136
  • 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 disease for KDSR:    
    About MalaCards
    follicular lymphoma


    Find genes that share disorders with KDSR           About GenesLikeMe

    Genetic Association Database (GAD): KDSR
    Human Genome Epidemiology (HuGE) Navigator: KDSR (0 documents)

    Export disorders for KDSR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KDSR gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with KDSR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane. (PubMed id 15328338)1, 2, 3, 9 Kihara A. and Igarashi Y. (J. Biol. Chem. 2004)
    2. FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma. (PubMed id 8417785)1, 2, 3, 9 Rimokh R.... Magaud J.-P. (Blood 1993)
    3. A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. (PubMed id 17420465)1, 3, 9 Krebs S....FAPrster M. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 2009)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. B-cell non-Hodgkin's lymphoma cell line (Karpas 1106) with complex translocation involving 18q21.3 but lacking BCL2 rearrangement and expression. (PubMed id 7949096)1, 9 Nacheva E....Bevan P.C. (Blood 1994)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2531 HGNC: 4021 AceView: FVT1 Ensembl:ENSG00000119537 euGenes: HUgn2531
    ECgene: KDSR Kegg: 2531 H-InvDB: KDSR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KDSR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KDSR gene:
    Search GeneIP for patents involving KDSR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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