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delta 4-desaturase, sphingolipid 1

Summary

Gene Symbol

DEGS1

Aliases

DEGS-1
DES1
Des-1
FADS7
MLD
dihydroceramide desaturase 1
sphingolipid delta(4)-desaturase 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

8560

HGNC

13709

KEGG Gene ID

hsa:8560

PubChem

8560

Alliance of Genome Resources

HGNC:13709

Annotation

Keyword

Disease variant
Endoplasmic reticulum
Fatty acid biosynthesis
Isomerase
Leukodystrophy
Mitochondrion
Myristate
Oxidoreductase
Phosphoprotein
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
O15121	Cell migration-inducing gene 15 protein Degenerative spermatocyte homolog 1 Dihydroceramide desaturase-1 Membrane lipid desaturase Retinol isomerase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
unsaturated fatty acid biosynthetic process	TAS	9188692
sphingolipid biosynthetic process	TAS
myelin maintenance	IMP	30620337 30620338
ceramide biosynthetic process	IBA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

amide metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

amide biosynthetic process [inference]

ceramide biosynthetic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

lipid metabolic process [inference]

lipid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular component organization or biogenesis [inference]

cellular component organization [inference]

membrane organization [inference]

plasma membrane organization [inference]

myelin maintenance

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
mitochondrion	IDA
endoplasmic reticulum	TAS	9188692
endoplasmic reticulum membrane	TAS
plasma membrane	TAS
membrane	TAS	9188692

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

plasma membrane

organelle membrane [inference]

endoplasmic reticulum membrane

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

secretory granule membrane [inference]

specific granule membrane

mitochondrial membrane

bounding membrane of organelle [inference]

secretory granule membrane [inference]

specific granule membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
protein binding	IPI	32296183
electron transfer activity	TAS	9188692
sphingolipid delta-4 desaturase activity	TAS
sphingolipid delta-4 desaturase activity	IMP	30620337 30620338
sphingolipid delta-4 desaturase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

electron transfer activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [inference]

oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water [inference]

sphingolipid delta-4 desaturase activity

isomerase activity [inference]

cis-trans isomerase activity [inference]

retinol isomerase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

sphingolipid

Functional Category

I: Lipid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
P: Inorganic ion transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism

Displaying **all 6** entries
Gene Ontology
catalytic activity
ceramide biosynthetic process
lipid metabolic process
oxidoreductase activity
sphingolipid biosynthetic process
sphingolipid delta-4 desaturase activity

Displaying **all 3** entries
InterPro
Fatty acid desaturase domain
Sphingolipid delta4-desaturase, N-terminal
Sphingolipid delta4-desaturase

KEGG BRITE Database

Orthology

K04712

Name

sphingolipid 4-desaturase/C4-monooxygenase [EC:1.14.19.17 1.14.18.5]

References

11937514

Rhea

RHEA:46544

H⁺ + O₂ + an N-acylsphinganine

H₂O + an N-acylsphing-4-enine

Enzyme

1.14.19.17

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0070399	hypomyelinating leukodystrophy 18	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 27 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000639	Nystagmus
HP:0000750	Delayed speech and language development
HP:0000762	Decreased nerve conduction velocity
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001310	Dysmetria

Displaying 1 entry
Disease ID	Disease Name
OMIM:618404	leukodystrophy, hypomyelinating, 18

PubChem Disease

MedGen Diseases

Leukodystrophy, hypomyelinating, 18

OMIM Phenotypes

LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18

KEGG Diseases

Hypomyelinating leukodystrophy

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000280
Gene Name: delta(4)-desaturase, sphingolipid 1

Ortholog

Displaying entries **1 - 10** of 88 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	8560	Xenbase:XB-GENE-946874
Mus musculus	13244		MOUSE28136
Rattus norvegicus	58970		RATNO06357
Drosophila melanogaster	123099	FB:FBgn0001941
Danio rerio	327075		DANRE04934
Pan troglodytes	457770		PANTR23780
Bos taurus	507290		BOVIN08067
Macaca mulatta	702128		MACMU24623
Monodelphis domestica	100018776		MONDO10688
Equus caballus	100055442		HORSE29385

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UniCarb-DR

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Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements