Homo sapiens Protein: FADS2
Summary
InnateDB Protein IDBP-485538.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FADS2
Protein Name fatty acid desaturase 2
Synonyms D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13;
Species Homo sapiens
Ensembl Protein ENSP00000431091
InnateDB Gene IDBG-50591 (FADS2)
Protein Structure
UniProt Annotation
Function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma- linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum. {ECO:0000269PubMed:12713571, ECO:0000269PubMed:9867867}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Disease Associations
Tissue Specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. {ECO:0000269PubMed:10860662, ECO:0000269PubMed:12851727, ECO:0000269PubMed:9867867}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0016717 oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water
GO:0020037 heme binding
Biological Process
GO:0006629 lipid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0006636 unsaturated fatty acid biosynthetic process
GO:0033559 unsaturated fatty acid metabolic process
GO:0036109 alpha-linolenic acid metabolic process
GO:0043651 linoleic acid metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR001199 Cytochrome b5-like heme/steroid binding domain
IPR005804 Fatty acid desaturase, type 1
IPR012171 Fatty acid/sphingolipid desaturase
PFAM PF00173
PF00487
PRINTS PR00363
PIRSF PIRSF015921
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O95864
PhosphoSite PhosphoSite-O95864
TrEMBL F5H622
UniProt Splice Variant
Entrez Gene 9415
UniGene Hs.734202
RefSeq
HUGO HGNC:3575
OMIM 606149
CCDS
HPRD 05854
IMGT
EMBL AF084559 AF108658 AF126799 AK027513 AK074939 AK290291 AK299762 AL050118 AP002380 BC009011 BX640945 CH471076
GenPept AAD20018 AAG23121 AAG43192 AAH09011 BAB55167 BAC11305 BAF82980 BAH13120 CAB43280 CAE45971 EAW73975