DEGS1 - delta 4-desaturase, sphingolipid 1 Gene

Homo sapiens

Also known as MLD; DEGS; DES1; Des-1; FADS7; HLD18; MIG15; DEGS-1

Gene ID: 8560 | Gene type: protein coding

About DEGS1

Cytogenetic location: 1q42.11 Genomic coordinates (GRCh38): 1:224,183,240-224,193,441 (from NCBI)

This gene has 5 transcripts (splice variants), 226 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in skin (RPKM 186.9), placenta (RPKM 50.2) and 21 other tissues.

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]

DEGS1 Products(3)

mRNA	Protein	Name
NM_001321541.2	NP_001308470.1	sphingolipid delta(4)-desaturase DES1 isoform 2
NM_001321542.2	NP_001308471.1	sphingolipid delta(4)-desaturase DES1 isoform 3
NM_003676.4	NP_003667.1	sphingolipid delta(4)-desaturase DES1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables retinol isomerase activity	IDA IDA: Inferred from direct assay	23143414	GOA
enables sphingolipid delta-4 desaturase activity	IMP IMP: Inferred from mutant phenotype	30620337	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in myelin maintenance	IMP IMP: Inferred from mutant phenotype	30620337	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DEGS1 Protein Structure

Lipid_DES

FA_desaturase

0
100
200
300
323 a.a.

Protein Preferred Names

Protein Names

sphingolipid delta(4)-desaturase DES1

cell migration-inducing gene 15 protein

DEGS1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	DEGS1	O15121	C4orf3	Homo sapiens	Q8WVX3-2	Validated Y2H	32296183
Intra	DEGS1	O15121	SEMA4G	Homo sapiens	Q9NTN9-2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

DEGS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83490	MLD Antibody (YA3235)	WB	Human

Related Diseases

Diseases

Alias

Leukodystrophy, Hypomyelinating, 18

HLD18

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Leukodystrophy

Leukodystrophies

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome	Nephrotic Syndrome 14
NPHS14	Splis
Nephrotic Syndrome Type 14	Sgpl1 Deficiency
Steroid-Resistant Nephrotic Syndrome Type 14	Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153665	Deg-1		99.45%	Unkown
HY-RS03682	DEGS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DEGS1	RGD	RGD:70917
Macaca mulatta	DEGS1	VGNC	VGNC:71620
Canis familiaris	DEGS1	VGNC	VGNC:49678
Bos taurus	DEGS1	VGNC	VGNC:27990
Mus musculus	DEGS1	MGD	MGI:1097711
Felis catus	DEGS1	VGNC	VGNC:61428

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