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Kdsr 3-ketodihydrosphingosine reductase [ Mus musculus (house mouse) ]

Gene ID: 70750, updated on 5-Mar-2024

Summary

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Official Symbol
Kdsrprovided by MGI
Official Full Name
3-ketodihydrosphingosine reductaseprovided by MGI
Primary source
MGI:MGI:1918000
See related
Ensembl:ENSMUSG00000009905 AllianceGenome:MGI:1918000
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Fvt1; 6330410P18Rik; 9430079B08Rik
Summary
Predicted to enable 3-dehydrosphinganine reductase activity. Acts upstream of or within sphingolipid biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis et progressiva 4 and follicular lymphoma. Orthologous to human KDSR (3-ketodihydrosphingosine reductase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 6.1), genital fat pad adult (RPKM 6.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
1 E2.1; 1 49.99 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (106648140..106689544, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (106720410..106759742, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:108445776-108445929 Neighboring gene STARR-positive B cell enhancer ABC_E3295 Neighboring gene STARR-seq mESC enhancer starr_01859 Neighboring gene microRNA 3473f Neighboring gene STARR-positive B cell enhancer ABC_E1227 Neighboring gene STARR-positive B cell enhancer mm9_chr1:108466183-108466484 Neighboring gene B cell leukemia/lymphoma 2 Neighboring gene STARR-positive B cell enhancer mm9_chr1:108516642-108516943 Neighboring gene STARR-seq mESC enhancer starr_01860 Neighboring gene predicted gene, 37053 Neighboring gene STARR-positive B cell enhancer ABC_E4341 Neighboring gene STARR-positive B cell enhancer ABC_E3296 Neighboring gene vacuolar protein sorting 4B Neighboring gene STARR-positive B cell enhancer ABC_E10027 Neighboring gene predicted gene, 53577 Neighboring gene STARR-seq mESC enhancer starr_01863 Neighboring gene STARR-seq mESC enhancer starr_01864 Neighboring gene serine (or cysteine) peptidase inhibitor, clade B, member 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane. Kihara A, et al. J Biol Chem, 2004 Nov 19. PMID 15328338
  2. Sex-specific perturbation of complex lipids in response to medium-chain fatty acids in very long-chain acyl-CoA dehydrogenase deficiency. Alatibi KI, et al. FEBS J, 2020 Aug. PMID 31971349
  3. Lateral diffusion of inositol 1,4,5-trisphosphate receptor type 1 is regulated by actin filaments and 4.1N in neuronal dendrites. Fukatsu K, et al. J Biol Chem, 2004 Nov 19. PMID 15364918
  4. Differences in health status affect susceptibility and mapping of genetic loci for atherosclerosis (fatty streak) in inbred mice. Srivastava U, et al. Arterioscler Thromb Vasc Biol, 2012 Oct. PMID 22837474, Free PMC Article
  5. Transcription factor Ctip2 controls epidermal lipid metabolism and regulates expression of genes involved in sphingolipid biosynthesis during skin development. Wang Z, et al. J Invest Dermatol, 2013 Mar. PMID 23096701, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane
    Title: FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 3-dehydrosphinganine reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3-dehydrosphinganine reductase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in 3-keto-sphinganine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within 3-keto-sphinganine metabolic process ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in sphingolipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within sphingolipid biosynthetic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
3-ketodihydrosphingosine reductase
Names
3-dehydrosphinganine reductase
KDS reductase
follicular lymphoma variant translocation 1
follicular variant translocation protein 1 homolog
NP_001303679.1
NP_081810.1

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.

mRNA and Protein(s)

  1. NM_001316750.1 → NP_001303679.1  3-ketodihydrosphingosine reductase isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC122842, AK018155, BY327717
    Conserved Domains (2) summary
    cd08939
    Location:32 → 258
    KDSR-like_SDR_c; 3-ketodihydrosphingosine reductase (KDSR) and related proteins, classical (c) SDR
    pfam00106
    Location:34 → 232
    adh_short; short chain dehydrogenase

  2. NM_027534.2 → NP_081810.1  3-ketodihydrosphingosine reductase isoform 1 precursor

    See identical proteins and their annotated locations for NP_081810.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC122842
    Consensus CDS
    CCDS15210.1
    UniProtKB/Swiss-Prot
    Q6GV12
    UniProtKB/TrEMBL
    Q3TDR0, Q8CII3
    Related
    ENSMUSP00000010049.5, ENSMUST00000010049.6
    Conserved Domains (2) summary
    cd08939
    Location:32 → 268
    KDSR-like_SDR_c; 3-ketodihydrosphingosine reductase (KDSR) and related proteins, classical (c) SDR
    pfam00106
    Location:34 → 232
    adh_short; short chain dehydrogenase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    106648140..106689544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_004934272.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6GV12.1 GenPept UniProtKB/Swiss-Prot:Q6GV12

Gene LinkOut

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