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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
myelin maintenance	IMP	30620337 30620338
unsaturated fatty acid biosynthetic process		9188692
ceramide biosynthetic process	IBA
sphingolipid biosynthetic process

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
endoplasmic reticulum		9188692
endoplasmic reticulum membrane
mitochondrial membrane	IEA
plasma membrane
membrane		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 **all 4** entries
GO Term	Evidence Code	PMID
electron transfer activity		9188692
retinol isomerase activity	IDA	23143414
protein binding	IPI	32296183
sphingolipid delta-4 desaturase activity	IBA IMP TAS	30620337 30620338

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.

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 entries **1 - 10** of 98 in total

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DO ID	Disease Name	Source
DOID:0050635	alternating hemiplegia of childhood	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060786	hypomyelinating leukodystrophy	Alliance of Genome Resources
DOID:0070399	hypomyelinating leukodystrophy 18	Alliance of Genome Resources
DOID:0080199	colorectal carcinoma	DisGeNET
DOID:0080348	Alzheimer's disease 1	DisGeNET
DOID:0110035	Alzheimer's disease 2	DisGeNET
DOID:0110037	Alzheimer's disease 5	DisGeNET
DOID:0110038	Alzheimer's disease 6	DisGeNET
DOID:0110039	Alzheimer's disease 7	DisGeNET

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 95 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	173327	WB:WBGene00013197
Caenorhabditis elegans	177548	WB:WBGene00017996
Drosophila melanogaster	33836	FB:FBgn0001941
Ciona intestinalis	100178733		CIOIN08988
Callorhinchus milii	103181614		CALMI23214
Latimeria chalumnae	102357565		LATCH04254
Danio rerio	327075	ZFIN:ZDB-GENE-030131-5283	DANRE04934
Astyanax mexicanus	103035033		ASTMX08458
Ictalurus punctatus	108260864		ICTPU23865
Electrophorus electricus	113585484		ELEEL36057

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements