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

    Gene ID: 70750, updated on 28-Oct-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 and NADPH binding activity. Acts upstream of or within sphingolipid biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Is expressed in skin. 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, Oct 2024]
    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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    See Kdsr in Genome Data Viewer
    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 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 3-dehydrosphinganine reductase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables NADPH binding ISS
    Inferred from Sequence or Structural Similarity
    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 
    involved_in 3-keto-sphinganine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in 3-keto-sphinganine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    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 
    involved_in sphingolipid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sphingolipid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    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 endoplasmic reticulum 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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