Homo sapiens Gene: DEGS1
Summary
InnateDB Gene IDBG-106891.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DEGS1
Gene Name delta(4)-desaturase, sphingolipid 1
Synonyms DEGS; DEGS-1; Des-1; DES1; FADS7; MLD
Species Homo sapiens
Ensembl Gene ENSG00000143753
Encoded Proteins
degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)
degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)
degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:224175756-224193441
Strand Forward strand
Band q42.11
Transcripts
ENST00000323699 ENSP00000316476
ENST00000391877 ENSP00000375749
ENST00000415210 ENSP00000400545
ENST00000465848
ENST00000498813
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0009055 electron carrier activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
Biological Process
GO:0006629 lipid metabolic process
GO:0006636 unsaturated fatty acid biosynthetic process
GO:0006665 sphingolipid metabolic process
GO:0030148 sphingolipid biosynthetic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Sphingolipid de novo biosynthesis pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
KEGG
Sphingolipid metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL E7EMA0
UniProt Splice Variant
Entrez Gene 8560
UniGene Hs.299878
RefSeq NM_003676 XM_006711839
HUGO HGNC:13709
OMIM 615843
CCDS CCDS1540
HPRD 13133
IMGT
EMBL AC092809
GenPept
RNA Seq Atlas 8560