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    Degs1l delta 4-desaturase, sphingolipid 1 like [ Mus musculus (house mouse) ]

    Gene ID: 619326, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Degs1lprovided by MGI
    Official Full Name
    delta 4-desaturase, sphingolipid 1 likeprovided by MGI
    Primary source
    MGI:MGI:3588271
    See related
    Ensembl:ENSMUSG00000038768 AllianceGenome:MGI:3588271
    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
    9130409I23Rik
    Summary
    Predicted to enable retinol isomerase activity and sphingolipid delta-4 desaturase activity. Predicted to be involved in ceramide biosynthetic process and myelin maintenance. Predicted to be located in mitochondrion. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 18. Orthologous to human DEGS1 (delta 4-desaturase, sphingolipid 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver adult (RPKM 1.5), stomach adult (RPKM 1.5) and 2 other tissues See more
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    Genomic context

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    See Degs1l in Genome Data Viewer
    Location:
    1 H4; 1 84.52 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (180863166..180888326)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (181035606..181060761)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 63a Neighboring gene STARR-seq mESC enhancer starr_03223 Neighboring gene epoxide hydrolase 1, microsomal Neighboring gene STARR-seq mESC enhancer starr_03226 Neighboring gene STARR-positive B cell enhancer ABC_E3344 Neighboring gene STARR-seq mESC enhancer starr_03227 Neighboring gene STARR-seq mESC enhancer starr_03228 Neighboring gene predicted gene, 39716 Neighboring gene ribosomal protein L7 pseudogene Neighboring gene predicted gene, 37406 Neighboring gene degenerative spermatocyte homolog 1 pseudogene

    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. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article
    2. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    3. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073
    4. High-efficiency full-length cDNA cloning. Carninci P, et al. Methods Enzymol, 1999. PMID 10349636
    5. RIKEN integrated sequence analysis (RISA) system--384-format sequencing pipeline with 384 multicapillary sequencer. Shibata K, et al. Genome Res, 2000 Nov. PMID 11076861, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables retinol isomerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables sphingolipid delta-4 desaturase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sphingolipid delta-4 desaturase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myelin maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    sphingolipid delta(4)-desaturase DES1-like
    NP_001028991.1
    NP_001405239.1

    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_001033819.3 → NP_001028991.1  sphingolipid delta(4)-desaturase DES1-like isoform 1

      See identical proteins and their annotated locations for NP_001028991.1

      Status: VALIDATED

      Source sequence(s)
      AC119911
      Consensus CDS
      CCDS35809.1
      UniProtKB/TrEMBL
      Q3TS87, Q3UW62
      Related
      ENSMUSP00000042889.7, ENSMUST00000036819.7
      Conserved Domains (3) summary
      PLN02579
      Location:8 → 319
      PLN02579; sphingolipid delta-4 desaturase
      cd03508
      Location:26 → 315
      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:6 → 42
      Lipid_DES; Sphingolipid Delta4-desaturase (DES)

    2. NM_001418310.1 → NP_001405239.1  sphingolipid delta(4)-desaturase DES1-like isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC119911

    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
      180863166..180888326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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