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KDSR 3-ketodihydrosphingosine reductase [ Homo sapiens (human) ]

Gene ID: 2531, updated on 23-Nov-2021

Summary

Official Symbol
KDSRprovided by HGNC
Official Full Name
3-ketodihydrosphingosine reductaseprovided by HGNC
Primary source
HGNC:HGNC:4021
See related
Ensembl:ENSG00000119537 MIM:136440
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DHSR; FVT1; EKVP4; SDR35C1
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 14.9), skin (RPKM 11.7) and 25 other tissues See more
Orthologs
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Genomic context

See KDSR in Genome Data Viewer
Location:
18q21.33
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (63327726..63367206, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (60994959..61034439, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372161 Neighboring gene BCL2 apoptosis regulator Neighboring gene Sharpr-MPRA regulatory region 13815 Neighboring gene proteasome 26S subunit, ATPase 5 pseudogene Neighboring gene vacuolar protein sorting 4 homolog B Neighboring gene VPS4B-SERPINB5 intergenic CAGE-defined mid-level expression enhancer

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36555, FLJ92680

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-dehydrosphinganine reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables 3-dehydrosphinganine reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 3-dehydrosphinganine reductase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables 3-dehydrosphinganine reductase activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in 3-keto-sphinganine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within 3-keto-sphinganine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sphingolipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in extracellular space TAS
Traceable Author Statement
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 

General protein information

Preferred Names
3-ketodihydrosphingosine reductase
Names
3-dehydrosphinganine reductase
FVT-1
KDS reductase
follicular lymphoma variant translocation 1
follicular variant translocation protein 1
short chain dehydrogenase/reductase family 35C member 1
NP_002026.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028249.1 RefSeqGene

    Range
    5068..44548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1196

mRNA and Protein(s)

  1. NM_002035.4NP_002026.1  3-ketodihydrosphingosine reductase precursor

    See identical proteins and their annotated locations for NP_002026.1

    Status: REVIEWED

    Source sequence(s)
    AC021803, X63657
    Consensus CDS
    CCDS11982.1
    UniProtKB/Swiss-Prot
    Q06136
    UniProtKB/TrEMBL
    A0A024R292
    Related
    ENSP00000494352.1, ENST00000645214.2
    Conserved Domains (1) summary
    cd08939
    Location:32268
    KDSR-like_SDR_c; 3-ketodihydrosphingosine reductase (KDSR) and related proteins, classical (c) SDR

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    63327726..63367206 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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