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

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: mouse all
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Genomic context

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_000001.11 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

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism.
Title: Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism.
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Title: The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Title: Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Dihydroceramide Delta4-Desaturase 1 Is Not Involved in SARS-CoV-2 Infection.
Title: Dihydroceramide Δ4-Desaturase 1 Is Not Involved in SARS-CoV-2 Infection.
Dihydroceramide desaturase 1 (DES1) promotes anchorage-independent survival downstream of HER2-driven glucose uptake and metabolism.
Title: Dihydroceramide desaturase 1 (DES1) promotes anchorage-independent survival downstream of HER2-driven glucose uptake and metabolism.
Dihydroceramide desaturase regulates the compartmentalization of Rac1 for neuronal oxidative stress.
Title: Dihydroceramide desaturase regulates the compartmentalization of Rac1 for neuronal oxidative stress.
N-(4-Hydroxyphenyl) Retinamide Suppresses SARS-CoV-2 Spike Protein-Mediated Cell-Cell Fusion by a Dihydroceramide Delta4-Desaturase 1-Independent Mechanism.
Title: N-(4-Hydroxyphenyl) Retinamide Suppresses SARS-CoV-2 Spike Protein-Mediated Cell-Cell Fusion by a Dihydroceramide Δ4-Desaturase 1-Independent Mechanism.
Sphingolipid Modulation Activates Proteostasis Programs to Govern Human Hematopoietic Stem Cell Self-Renewal.
Title: Sphingolipid Modulation Activates Proteostasis Programs to Govern Human Hematopoietic Stem Cell Self-Renewal.
DEGS1 variant causes neurological disorder.
Title: DEGS1 variant causes neurological disorder.
DEGS1 dysfunction as the cause of a sphingolipid disorder with hypomyelination and degeneration of both the central and peripheral nervous systems.
Title: DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leukodystrophy, hypomyelinating, 18 MedGen: C5193078 OMIM: 618404 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76416 (e-PCR)
- UniSTS:56085

RH67833 (e-PCR)
- UniSTS:46285

RH103430 (e-PCR)
- UniSTS:97755

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 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

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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

EC 1.14.19.17

NP_001308471.1

EC 1.14.19.17

NP_003667.1

EC 1.14.19.17

XP_016858137.1

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

Status: VALIDATED

Source sequence(s)

AC092809

UniProtKB/TrEMBL

E7EMA0

Conserved Domains (2) summary

cd03508
Location:26 → 275

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)
NM_001321542.2 → NP_001308471.1 sphingolipid delta(4)-desaturase DES1 isoform 3

Status: VALIDATED

Source sequence(s)

AC092809

UniProtKB/TrEMBL

E7EMA0

Conserved Domains (2) 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 ...

pfam00487
Location:32 → 256

FA_desaturase; Fatty acid desaturase
NM_003676.4 → NP_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: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)

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

224183240..224193441

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

E7EMA0

Conserved Domains (2) 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 ...

pfam00487
Location:32 → 256

FA_desaturase; Fatty acid desaturase

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

223372483..223382685

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.