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KDSR (3-ketodihydrosphingosine reductase)

Identity

Alias (NCBI)DHSR
EKVP4
FVT1
SDR35C1
HGNC (Hugo) KDSR
HGNC Alias symbDHSR
SDR35C1
HGNC Alias name3-dehydrosphinganine reductase
 short chain dehydrogenase/reductase family 35C, member 1
HGNC Previous nameFVT1
HGNC Previous namefollicular lymphoma variant translocation 1
LocusID (NCBI) 2531
Atlas_Id 48
Location 18q21.33  [Link to chromosome band 18q21]
Location_base_pair Starts at 63327726 and ends at 63367206 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
IGK (14q32.33) / KDSR (18q21.33)Ig () / KDSR (18q21.33)KDSR (18q21.33) / CNN2 (19p13.3)
KDSR (18q21.33) / IGK (14q32.33)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;18)(p11;q21)IGK/BCL2 and IGK/KDSR

External links

Nomenclature
HGNC (Hugo)KDSR   4021
Cards
Entrez_Gene (NCBI)KDSR  2531  3-ketodihydrosphingosine reductase
AliasesDHSR; EKVP4; FVT1; SDR35C1
GeneCards (Weizmann)KDSR
Ensembl hg19 (Hinxton)ENSG00000119537 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119537 [Gene_View]  ENSG00000119537 [Sequence]  chr18:63327726-63367206 [Contig_View]  KDSR [Vega]
ICGC DataPortalENSG00000119537
TCGA cBioPortalKDSR
AceView (NCBI)KDSR
Genatlas (Paris)KDSR
WikiGenes2531
SOURCE (Princeton)KDSR
Genetics Home Reference (NIH)KDSR
Genomic and cartography
GoldenPath hg38 (UCSC)KDSR  -     chr18:63327726-63367206 -  18q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KDSR  -     18q21.33   [Description]    (hg19-Feb_2009)
GoldenPathKDSR - 18q21.33 [CytoView hg19]  KDSR - 18q21.33 [CytoView hg38]
ImmunoBaseENSG00000119537
genome Data Viewer NCBIKDSR [Mapview hg19]  
OMIM136440   617526   
Gene and transcription
Genbank (Entrez)AF086045 AK025120 AK093874 AK126679 AK297670
RefSeq transcript (Entrez)NM_002035
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KDSR
Alternative Splicing GalleryENSG00000119537
Gene ExpressionKDSR [ NCBI-GEO ]   KDSR [ EBI - ARRAY_EXPRESS ]   KDSR [ SEEK ]   KDSR [ MEM ]
Gene Expression Viewer (FireBrowse)KDSR [ Firebrowse - Broad ]
GenevisibleExpression of KDSR in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2531
GTEX Portal (Tissue expression)KDSR
Human Protein AtlasENSG00000119537-KDSR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06136   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06136  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06136
Splice isoforms : SwissVarQ06136
Catalytic activity : Enzyme1.1.1.102 [ Enzyme-Expasy ]   1.1.1.1021.1.1.102 [ IntEnz-EBI ]   1.1.1.102 [ BRENDA ]   1.1.1.102 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ06136
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)NAD(P)-bd_dom_sf    Sc_DH/Rdtase_CS    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)KDSR
DMDM Disease mutations2531
Blocks (Seattle)KDSR
SuperfamilyQ06136
Human Protein Atlas [tissue]ENSG00000119537-KDSR [tissue]
Peptide AtlasQ06136
HPRD00640
IPIIPI00029015   IPI00640823   
Protein Interaction databases
DIP (DOE-UCLA)Q06136
IntAct (EBI)Q06136
FunCoupENSG00000119537
BioGRIDKDSR
STRING (EMBL)KDSR
ZODIACKDSR
Ontologies - Pathways
QuickGOQ06136
Ontology : AmiGOextracellular space  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  3-keto-sphinganine metabolic process  3-keto-sphinganine metabolic process  membrane  integral component of membrane  sphingolipid biosynthetic process  sphingolipid biosynthetic process  3-dehydrosphinganine reductase activity  3-dehydrosphinganine reductase activity  3-dehydrosphinganine reductase activity  3-dehydrosphinganine reductase activity  oxidation-reduction process  
Ontology : EGO-EBIextracellular space  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  3-keto-sphinganine metabolic process  3-keto-sphinganine metabolic process  membrane  integral component of membrane  sphingolipid biosynthetic process  sphingolipid biosynthetic process  3-dehydrosphinganine reductase activity  3-dehydrosphinganine reductase activity  3-dehydrosphinganine reductase activity  3-dehydrosphinganine reductase activity  oxidation-reduction process  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkKDSR
Atlas of Cancer Signalling NetworkKDSR
Wikipedia pathwaysKDSR
Orthology - Evolution
OrthoDB2531
GeneTree (enSembl)ENSG00000119537
Phylogenetic Trees/Animal Genes : TreeFamKDSR
HOGENOMQ06136
Homologs : HomoloGeneKDSR
Homology/Alignments : Family Browser (UCSC)KDSR
Gene fusions - Rearrangements
Fusion : MitelmanIGK/KDSR [2p11.2/18q21.33]  
Fusion : QuiverKDSR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKDSR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KDSR
dbVarKDSR
ClinVarKDSR
MonarchKDSR
1000_GenomesKDSR 
Exome Variant ServerKDSR
GNOMAD BrowserENSG00000119537
Varsome BrowserKDSR
Genetic variants : HAPMAP2531
Genomic Variants (DGV)KDSR [DGVbeta]
DECIPHERKDSR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKDSR 
Mutations
ICGC Data PortalKDSR 
TCGA Data PortalKDSR 
Broad Tumor PortalKDSR
OASIS PortalKDSR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKDSR  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKDSR
Mutations and Diseases : HGMDKDSR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KDSR
DgiDB (Drug Gene Interaction Database)KDSR
DoCM (Curated mutations)KDSR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KDSR (select a term)
intoGenKDSR
Cancer3DKDSR(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM136440    617526   
Orphanet
DisGeNETKDSR
MedgenKDSR
Genetic Testing Registry KDSR
NextProtQ06136 [Medical]
TSGene2531
GENETestsKDSR
Target ValidationKDSR
Huge Navigator KDSR [HugePedia]
snp3D : Map Gene to Disease2531
BioCentury BCIQKDSR
ClinGenKDSR
Clinical trials, drugs, therapy
Protein Interactions : CTD2531
Pharm GKB GenePA162392777
Clinical trialKDSR
Miscellaneous
canSAR (ICR)KDSR (select the gene name)
HarmonizomeKDSR
DataMed IndexKDSR
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKDSR
EVEXKDSR
GoPubMedKDSR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 14 14:16:47 CEST 2020
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