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    Degs1 delta(4)-desaturase, sphingolipid 1 [ Mus musculus (house mouse) ]

    Gene ID: 13244, updated on 5-Aug-2018

    Summary

    Official Symbol
    Degs1provided by MGI
    Official Full Name
    delta(4)-desaturase, sphingolipid 1provided by MGI
    Primary source
    MGI:MGI:1097711
    See related
    Ensembl:ENSMUSG00000038633 Vega:OTTMUSG00000021622
    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
    Degs; Des1; Mdes; AA536663
    Expression
    Ubiquitous expression in placenta adult (RPKM 57.5), kidney adult (RPKM 52.3) and 28 other tissues See more
    Orthologs

    Genomic context

    See Degs1 in Genome Data Viewer
    Location:
    1; 1 H5
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (182275770..182282759, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (184205901..184212890, complement)

    Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 1 Neighboring gene uncharacterized LOC105244034 Neighboring gene RIKEN cDNA 1700047M11 gene Neighboring gene F-box protein 28

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    sphingolipid delta-4 desaturase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sphingolipid delta-4 desaturase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sphingolipid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    sphingolipid delta(4)-desaturase DES1
    Names
    degenerative spermatocyte homolog 1
    dihydroceramide desaturase
    NP_031879.1
    XP_017169956.1

    NCBI Reference Sequences (RefSeq)

    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_001360783.1NP_001347712.1  sphingolipid delta(4)-desaturase DES1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC139295
      Conserved Domains (1) summary
      cd03508
      Location:1279
      Delta4-sphingolipid-FADS-like; The Delta4-sphingolipid Fatty Acid Desaturase (Delta4-sphingolipid-FADS)-like CD includes the integral-membrane enzymes, dihydroceramide Delta-4 desaturase, involved in the synthesis of sphingosine; and the human membrane fatty acid (lipid) desaturase ...
    2. NM_007853.5NP_031879.1  sphingolipid delta(4)-desaturase DES1 isoform 1

      See identical proteins and their annotated locations for NP_031879.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC139295, AK077257
      Consensus CDS
      CCDS15587.1
      UniProtKB/Swiss-Prot
      O09005
      Related
      ENSMUSP00000048519.5, OTTMUSP00000024135, ENSMUST00000035295.5
      Conserved Domains (3) summary
      PLN02579
      Location:5318
      PLN02579; sphingolipid delta-4 desaturase
      cd03508
      Location:26315
      Delta4-sphingolipid-FADS-like; The Delta4-sphingolipid Fatty Acid Desaturase (Delta4-sphingolipid-FADS)-like CD includes the integral-membrane enzymes, dihydroceramide Delta-4 desaturase, involved in the synthesis of sphingosine; and the human membrane fatty acid (lipid) desaturase ...
      pfam08557
      Location:642
      Lipid_DES; Sphingolipid Delta4-desaturase (DES)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      182275770..182282759 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017314467.1XP_017169956.1  sphingolipid delta(4)-desaturase DES1 isoform X1

      Conserved Domains (1) summary
      cd03508
      Location:1279
      Delta4-sphingolipid-FADS-like; The Delta4-sphingolipid Fatty Acid Desaturase (Delta4-sphingolipid-FADS)-like CD includes the integral-membrane enzymes, dihydroceramide Delta-4 desaturase, involved in the synthesis of sphingosine; and the human membrane fatty acid (lipid) desaturase ...
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