Gene/Proteome Database (LMPD)
LMPD ID
LMP006635
Gene ID
Species
Homo sapiens (Human)
Gene Name
delta(4)-desaturase, sphingolipid 2
Gene Symbol
Synonyms
C14orf66; DES2; FADS8
Chromosome
14
Map Location
14q32.2
EC Number
1.-.-.-
Summary
This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]
Orthologs
Proteins
| sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 | |
|---|---|
| Refseq ID | NP_996801 |
| Protein GI | 207113139 |
| UniProt ID | Q6QHC5 |
| mRNA ID | NM_206918 |
| Length | 323 |
| RefSeq Status | REVIEWED |
| MGNSASRSDFEWVYTDQPHTQRRKEILAKYPAIKALMRPDPRLKWAVLVLVLVQMLACWLVRGLAWRWLLFWAYAFGGCVNHSLTLAIHDISHNAAFGTGRAARNRWLAVFANLPVGVPYAASFKKYHVDHHRYLGGDGLDVDVPTRLEGWFFCTPARKLLWLVLQPFFYSLRPLCVHPKAVTRMEVLNTLVQLAADLAIFALWGLKPVVYLLASSFLGLGLHPISGHFVAEHYMFLKGHETYSYYGPLNWITFNVGYHVEHHDFPSIPGYNLPLVRKIAPEYYDHLPQHHSWVKVLWDFVFEDSLGPYARVKRVYRLAKDGL | |
Gene Information
Entrez Gene ID
Gene Name
delta(4)-desaturase, sphingolipid 2
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0042284 | IEA:Ensembl | F | sphingolipid delta-4 desaturase activity |
| GO:0000170 | IEA:Ensembl | F | sphingosine hydroxylase activity |
| GO:0046513 | IEA:Ensembl | P | ceramide biosynthetic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0006667 | IEA:Ensembl | P | sphinganine metabolic process |
| GO:0030148 | TAS:Reactome | P | sphingolipid biosynthetic process |
| GO:0006665 | TAS:Reactome | P | sphingolipid metabolic process |
BIOCYC Pathway Links
| BIOCYC Pathway ID | Description |
|---|---|
| PWY3DJ-12 | ceramide biosynthesis |
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 2
Protein Entry
Q6QHC5_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Function | Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase. |
| Induction | Up-regulated during keratinocyte differentiation. Not expressed at day 0 or day 3 after differentiation, detected on day 6 and increases by day 9. |
| Pathway | Membrane lipid metabolism; sphingolipid biosynthesis. |
| Similarity | Belongs to the fatty acid desaturase family. DEGS subfamily. |
| Subcellular Location | Endoplasmic reticulum membrane ; Multi-pass membrane protein . |
| Tissue Specificity | Highly expressed in skin, intestine and kidney. |
Identical and Related Proteins
Unique RefSeq proteins for LMP006635 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 207113139 | RefSeq | NP_996801 | 323 | sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 |
Identical Sequences to LMP006635 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:207113139 | SwissProt | Q6QHC5.2 | 323 | RecName: Full=Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2; AltName: Full=Degenerative spermatocyte homolog 2 [Homo sapiens] |
Related Sequences to LMP006635 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:207113139 | EMBL | CAK32323.1 | 323 | unnamed protein product [Homo sapiens] |
| GI:207113139 | GenBank | AAH63598.1 | 323 | Degenerative spermatocyte homolog 2, lipid desaturase (Drosophila) [Homo sapiens] |
| GI:207113139 | GenBank | AAS68362.1 | 323 | sphingolipid C4-hydroxylase/delta 4-desaturase protein DES2 [Homo sapiens] |
| GI:207113139 | GenBank | EAW81688.1 | 323 | degenerative spermatocyte homolog 2, lipid desaturase (Drosophila) [Homo sapiens] |
| GI:207113139 | GenBank | AIC57621.1 | 323 | DEGS2, partial [synthetic construct] |
| GI:207113139 | RefSeq | XP_001157834.1 | 323 | PREDICTED: sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 [Pan troglodytes] |