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

Gene ID: 8560, updated on 27-Jun-2020

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
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

Genomic context

See DEGS1 in Genome Data Viewer
Location:
1q42.11
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (224183240..224193441)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (224370910..224381143)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene F-box protein 28 Neighboring gene Sharpr-MPRA regulatory region 12248 Neighboring gene zinc finger protein 706 pseudogene Neighboring gene uncharacterized LOC101927143 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

Homology

Clone Names

  • MGC5079

Gene Ontology Provided by GOA

Function Evidence Code Pubs
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
retinol isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
sphingolipid delta-4 desaturase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
myelin maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
unsaturated fatty acid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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
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)

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
    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
    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
    UniProtKB/TrEMBL
    A0A024R3P1
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017002648.2XP_016858137.1  sphingolipid delta(4)-desaturase DES1 isoform X1

    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

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.
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