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

Gene ID: 619326, updated on 3-Apr-2024

Summary

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. Orthologous to human DEGS1 (delta 4-desaturase, sphingolipid 1). [provided by Alliance of Genome Resources, Apr 2022]
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

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

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

General gene information

Markers

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

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_001033819.3NP_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:8319
    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)
  2. NM_001418310.1NP_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)