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    DEGS1 delta 4-desaturase, sphingolipid 1 [ Homo sapiens (human) ]

    Gene ID: 8560, updated on 1-Mar-2024

    Summary

    Official Symbol
    DEGS1provided by HGNC
    Official Full Name
    delta 4-desaturase, sphingolipid 1provided by HGNC
    Primary source
    HGNC:HGNC:13709
    See related
    Ensembl:ENSG00000143753 MIM:615843; AllianceGenome:HGNC:13709
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MLD; DEGS; DES1; Des-1; FADS7; HLD18; MIG15; DEGS-1
    Summary
    This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
    Expression
    Broad expression in skin (RPKM 186.9), placenta (RPKM 50.2) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DEGS1 in Genome Data Viewer
    Location:
    1q42.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (224183240..224193441)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (223372483..223382685)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (224370942..224381143)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA72 Neighboring gene zinc finger protein 706 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224370121-224370951 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224370952-224371781 Neighboring gene Sharpr-MPRA regulatory region 9300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1851 Neighboring gene uncharacterized LOC101927143 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224402200-224402893 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224405308-224405505 Neighboring gene uncharacterized LOC101927164 Neighboring gene nuclear VCP like

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC5079

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables retinol isomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sphingolipid delta-4 desaturase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sphingolipid delta-4 desaturase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables sphingolipid delta-4 desaturase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelin maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in unsaturated fatty acid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    sphingolipid delta(4)-desaturase DES1
    Names
    cell migration-inducing gene 15 protein
    degenerative spermatocyte homolog 1, lipid desaturase
    degenerative spermatocyte homolog, lipid desaturase
    dihydroceramide desaturase 1
    membrane fatty acid (lipid) desaturase
    membrane lipid desaturase
    migration-inducing gene 15 protein
    retinol isomerase
    sphingolipid delta 4 desaturase
    sphingolipid delta(4)-desaturase 1
    NP_001308470.1
    NP_001308471.1
    NP_003667.1
    XP_016858137.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001321541.2NP_001308470.1  sphingolipid delta(4)-desaturase DES1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092809
      UniProtKB/TrEMBL
      E7EMA0
      Conserved Domains (2) summary
      cd03508
      Location:26275
      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_001321542.2NP_001308471.1  sphingolipid delta(4)-desaturase DES1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092809
      UniProtKB/TrEMBL
      E7EMA0
      Conserved Domains (2) 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 ...
      pfam00487
      Location:32256
      FA_desaturase; Fatty acid desaturase
    3. NM_003676.4NP_003667.1  sphingolipid delta(4)-desaturase DES1 isoform 1

      See identical proteins and their annotated locations for NP_003667.1

      Status: VALIDATED

      Source sequence(s)
      AY423730, BC000961
      Consensus CDS
      CCDS1540.1
      UniProtKB/Swiss-Prot
      O15121
      Related
      ENSP00000316476.4, ENST00000323699.9
      Conserved Domains (2) summary
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      224183240..224193441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002648.3XP_016858137.1  sphingolipid delta(4)-desaturase DES1 isoform X1

      UniProtKB/TrEMBL
      E7EMA0
      Conserved Domains (2) 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 ...
      pfam00487
      Location:32256
      FA_desaturase; Fatty acid desaturase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      223372483..223382685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_144780.1: Suppressed sequence

      Description
      NM_144780.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which aligns to the reference genome with non-consensus splice sites in the 3' UTR.