DEGS1 - delta 4-desaturase, sphingolipid 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8560

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 Referencias 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 Referencias 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

Lipid_DES: Sphingolipid Delta4-desaturase (DES) (5 - 42)

FA_desaturase

FA_desaturase: Fatty acid desaturase (68 - 285)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
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

Referencia número Nombre del producto Aplicación Reactivity
HY-P83490 MLD Antibody (YA3235) WB Human
HY-P83490A MLD Antibody (YA3235)(PBS only) 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

Pre-clinical Phase

Bioactive Molecules (5)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-153665 Deg-1 99.45% Unkown
HY-183723 GAA-4OH Inhibitor / Unkown
HY-RS03682 DEGS1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21551 Degs1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28069 Degs1 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others DEGS1 NCBI