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

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 AllianceGenome:MGI:1097711
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
Summary: Enables retinol isomerase activity and sphingolipid delta-4 desaturase activity. Acts upstream of or within ceramide biosynthetic process and positive regulation of apoptotic process. Predicted to be located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. 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, Dec 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 57.5), kidney adult (RPKM 52.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 84.93 cM; 1 H5

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (182103529..182110366, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (182275964..182282854, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Des1 expression in Muller cells is not required for cone visual pigment regeneration in the mouse.
Title: Conditional deletion of Des1 in the mouse retina does not impair the visual cycle in cones.
These studies suggest that inhibition of DES1 may provide a means of treating hepatic steatosis and metabolic disorders
Title: Targeting a ceramide double bond improves insulin resistance and hepatic steatosis.
Biochemical assays, cellular lipid feeding experiments, and pharmacological blockade of ceramide synthase (dihydroceramide desaturase) together show that this enzyme indeed controls the flux of ceramides on maturing phagosomes.
Title: Lipidomics Suggests a New Role for Ceramide Synthase in Phagocytosis.
genetic ablation of DEGS1 in preadipocytes prevented adipogenesis and decreased lipid accumulation. This was associated with elevated oxidative stress, cellular death, and blockage of the cell cycle.
Title: Increased dihydroceramide/ceramide ratio mediated by defective expression of degs1 impairs adipocyte differentiation and function.
The role of Degs1 in the hypoxic mouse heart.Hand2 and NFATC physically interact on the DEGS1 promoter.
Title: Regulation of de novo ceramide synthesis: the role of dihydroceramide desaturase and transcriptional factors NFATC and Hand2 in the hypoxic mouse heart.
Ablation of dihydroceramide desaturase 1 simultaneously stimulates anabolic and catabolic signaling.
Title: Ablation of dihydroceramide desaturase 1, a therapeutic target for the treatment of metabolic diseases, simultaneously stimulates anabolic and catabolic signaling.
Des1 ablation activated pro-survival and anabolic signaling intermediates (e.g. Akt/PKB, mTOR, MAPK, etc.) and provided protection from apoptosis caused by etoposide.
Title: Ablation of dihydroceramide desaturase confers resistance to etoposide-induced apoptosis in vitro.
overexpression of DEGS1 or DEGS2 attenuates the DHC accumulation and increased cell proliferation during hypoxia
Title: Dihydroceramide-based response to hypoxia.
analysis of dihydroceramide desaturase regulation by palmitate versus monounsaturated fatty acids and its implications for insulin resistance
Title: Differential regulation of dihydroceramide desaturase by palmitate versus monounsaturated fatty acids: implications for insulin resistance.
Data show that CS-mediated SCC lethality was mitigated in irradiated gain-of-function Rad50(s/s) mice, and epistasis studies order Rad50 upstream of Mre11.
Title: Regulation of ceramide synthase-mediated crypt epithelium apoptosis by DNA damage repair enzymes.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124287 (e-PCR)
- UniSTS:161109

AW822031 (e-PCR)
- UniSTS:207262

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables retinol isomerase activity	IDA Inferred from Direct Assay more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within ceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in myelin maintenance	ISO Inferred from Sequence Orthology more info
involved_in myelin maintenance	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sphingolipid delta(4)-desaturase DES1

Names: degenerative spermatocyte homolog 1; dihydroceramide desaturase; dihydroceramide desaturase-1; retinol isomerase

NP_001347712.1

EC 1.14.19.17

NP_031879.1

EC 1.14.19.17

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)

NM_001360783.1 → NP_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:1 → 279

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 ...
NM_007853.5 → NP_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, Q8R4H3

Related

ENSMUSP00000048519.6, ENSMUST00000035295.6

Conserved Domains (3) summary

PLN02579
Location:5 → 318

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)