Gene/Proteome Database (LMPD)
LMPD ID
LMP000280
Gene ID
Species
Homo sapiens (Human)
Gene Name
delta(4)-desaturase, sphingolipid 1
Gene Symbol
Synonyms
DEGS; DEGS-1; DES1; Des-1; FADS7; MLD
Alternate Names
sphingolipid delta(4)-desaturase DES1; membrane lipid desaturase; dihydroceramide desaturase 1; sphingolipid delta 4 desaturase; migration-inducing gene 15 protein; sphingolipid delta(4)-desaturase 1; membrane fatty acid (lipid) desaturase; cell migration-inducing gene 15 protein; degenerative spermatocyte homolog, lipid desaturase; degenerative spermatocyte homolog 1, lipid desaturase
Chromosome
1
Map Location
1q42.11
EC Number
1.14.-.-
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]
Orthologs
Proteins
| sphingolipid delta(4)-desaturase DES1 | |
|---|---|
| Refseq ID | NP_003667 |
| Protein GI | 4505193 |
| UniProt ID | O15121 |
| mRNA ID | NM_003676 |
| Length | 323 |
| RefSeq Status | VALIDATED |
| MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDFVMDDTISPYSRMKRHQKGEMVLE | |
Gene Information
Entrez Gene ID
Gene Name
delta(4)-desaturase, sphingolipid 1
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005783 | TAS:ProtInc | C | endoplasmic reticulum |
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0005887 | TAS:ProtInc | C | integral component of plasma membrane |
| GO:0016020 | TAS:ProtInc | C | membrane |
| GO:0005739 | IEA:UniProtKB-KW | C | mitochondrion |
| GO:0009055 | TAS:UniProtKB | F | electron carrier activity |
| GO:0016705 | IEA:InterPro | F | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0030148 | TAS:Reactome | P | sphingolipid biosynthetic process |
| GO:0006665 | TAS:Reactome | P | sphingolipid metabolic process |
| GO:0006636 | TAS:ProtInc | P | unsaturated fatty acid biosynthetic process |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa00600 | Sphingolipid metabolism |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_115810 | Sphingolipid de novo biosynthesis |
Domain Information
UniProt Annotations
Entry Information
Gene Name
delta(4)-desaturase, sphingolipid 1
Protein Entry
DEGS1_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Function | Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine). |
| Interaction | P11217:PYGM; NbExp=1; IntAct=EBI-1052713, EBI-357469; P53985:SLC16A1; NbExp=1; IntAct=EBI-1052713, EBI-1054708; O15260:SURF4; NbExp=1; IntAct=EBI-1052713, EBI-1044848; Q53HC9:TSSC1; NbExp=1; IntAct=EBI-1052713, EBI-1055422; |
| Ptm | Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels. |
| Similarity | Belongs to the fatty acid desaturase family. DEGS subfamily. |
| Subcellular Location | Mitochondrion. Endoplasmic reticulum membrane; Multi-pass membrane protein. |
| Tissue Specificity | Ubiquitous. |
Identical and Related Proteins
Unique RefSeq proteins for LMP000280 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 4505193 | RefSeq | NP_003667 | 323 | sphingolipid delta(4)-desaturase DES1 |
Identical Sequences to LMP000280 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4505193 | GenBank | AEQ83409.1 | 323 | Sequence 24 from patent US 8039212 |
| GI:4505193 | GenBank | AEW40291.1 | 323 | Sequence 161 from patent US 8071291 |
| GI:4505193 | GenBank | AEW40292.1 | 323 | Sequence 162 from patent US 8071291 |
| GI:4505193 | GenBank | AGF19294.1 | 323 | Sequence 2 from patent US 8367375 |
| GI:4505193 | GenBank | AGF22459.1 | 323 | Sequence 19 from patent US 8372595 |
| GI:4505193 | GenBank | AIC50147.1 | 323 | DEGS1, partial [synthetic construct] |
Related Sequences to LMP000280 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4505193 | GenBank | JAA15325.1 | 323 | degenerative spermatocyte homolog 1, lipid desaturase [Pan troglodytes] |
| GI:4505193 | GenBank | JAA32889.1 | 323 | chromosome 5 open reading frame 24 [Pan troglodytes] |
| GI:4505193 | GenBank | JAA44316.1 | 323 | degenerative spermatocyte homolog 1, lipid desaturase [Pan troglodytes] |
| GI:4505193 | RefSeq | XP_003275116.1 | 323 | PREDICTED: sphingolipid delta(4)-desaturase DES1 [Nomascus leucogenys] |
| GI:4505193 | RefSeq | XP_514228.3 | 323 | PREDICTED: sphingolipid delta(4)-desaturase DES1 [Pan troglodytes] |
| GI:4505193 | RefSeq | XP_008966021.1 | 323 | PREDICTED: sphingolipid delta(4)-desaturase DES1 [Pan paniscus] |