InnateDB Protein
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IDBP-50593.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FADS2
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Protein Name
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fatty acid desaturase 2
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Synonyms
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D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000257261
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InnateDB Gene
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IDBG-50591 (FADS2)
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Protein Structure
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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}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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Disease Associations |
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
Accession |
GO Term |
GO:0005506
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iron ion binding
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GO:0016717
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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
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GO:0020037
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heme binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR005804
Fatty acid desaturase, type 1
IPR012171
Fatty acid/sphingolipid desaturase
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PFAM |
PF00487
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PRINTS |
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PIRSF |
PIRSF015921
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O95864
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PhosphoSite |
PhosphoSite-O95864
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TrEMBL |
F5H622
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UniProt Splice Variant |
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Entrez Gene |
9415
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UniGene |
Hs.734202
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RefSeq |
NP_001268430
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HUGO |
HGNC:3575
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OMIM |
606149
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CCDS |
CCDS60807
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HPRD |
05854
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IMGT |
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EMBL |
AF084559
AF108658
AF126799
AK027513
AK074939
AK123240
AK290291
AK299762
AL050118
AP002380
BC009011
BX640945
CH471076
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GenPept |
AAD20018
AAG23121
AAG43192
AAH09011
BAB55167
BAC11305
BAF82980
BAG53882
BAH13120
CAB43280
CAE45971
EAW73975
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