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Protein

Fatty acid desaturase 2

Gene

FADS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

Catalytic activityi

Linoleoyl-CoA + 2 ferrocytochrome b5 + O2 + 2 H+ = gamma-linolenoyl-CoA + 2 ferricytochrome b5 + 2 H2O.2 Publications
Alpha-linolenoyl-CoA + 2 ferrocytochrome b5 + O2 + 2 H+ = stearidonoyl-CoA + 2 ferricytochrome b5 + 2 H2O.2 Publications

Pathwayi: polyunsaturated fatty acid biosynthesis

This protein is involved in the pathway polyunsaturated fatty acid biosynthesis, which is part of Lipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway polyunsaturated fatty acid biosynthesis and in Lipid metabolism.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processElectron transport, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS05918-MONOMER
BRENDAi1.14.19.3 2681
ReactomeiR-HSA-2046105 Linoleic acid (LA) metabolism
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism
UniPathwayiUPA00658

Chemistry databases

SwissLipidsiSLP:000000275

Names & Taxonomyi

Protein namesi
Recommended name:
Fatty acid desaturase 2 (EC:1.14.19.32 Publications)
Alternative name(s):
Acyl-CoA 6-desaturase
Delta(6) fatty acid desaturase
Short name:
D6D
Short name:
Delta(6) desaturase
Short name:
Delta-6 desaturase
Gene namesi
Name:FADS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000134824.13
HGNCiHGNC:3575 FADS2
MIMi606149 gene
neXtProtiNX_O95864

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 131CytoplasmicSequence analysisAdd BLAST131
Transmembranei132 – 152HelicalSequence analysisAdd BLAST21
Topological domaini153 – 157LumenalSequence analysis5
Transmembranei158 – 178HelicalSequence analysisAdd BLAST21
Topological domaini179 – 264CytoplasmicSequence analysisAdd BLAST86
Transmembranei265 – 285HelicalSequence analysisAdd BLAST21
Topological domaini286 – 305LumenalSequence analysisAdd BLAST20
Transmembranei306 – 326HelicalSequence analysisAdd BLAST21
Topological domaini327 – 444CytoplasmicSequence analysisAdd BLAST118

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi9415
OpenTargetsiENSG00000134824
PharmGKBiPA27974

Chemistry databases

ChEMBLiCHEMBL6097
DrugBankiDB00132 Alpha-Linolenic Acid

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003071011 – 444Fatty acid desaturase 2Add BLAST444

Proteomic databases

EPDiO95864
MaxQBiO95864
PaxDbiO95864
PeptideAtlasiO95864
PRIDEiO95864

PTM databases

iPTMnetiO95864
PhosphoSitePlusiO95864
SwissPalmiO95864

Expressioni

Tissue specificityi

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.3 Publications

Developmental stagei

Found in fetal heart.

Inductioni

Repressed by dietary highly unsaturated fatty acids.2 Publications

Gene expression databases

BgeeiENSG00000134824
CleanExiHS_FADS2
ExpressionAtlasiO95864 baseline and differential
GenevisibleiO95864 HS

Organism-specific databases

HPAiHPA006741

Interactioni

Protein-protein interaction databases

BioGridi114810, 9 interactors
IntActiO95864, 8 interactors
MINTiO95864
STRINGi9606.ENSP00000278840

Chemistry databases

BindingDBiO95864

Structurei

3D structure databases

ProteinModelPortaliO95864
SMRiO95864
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini18 – 95Cytochrome b5 heme-bindingPROSITE-ProRule annotationAdd BLAST78

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi180 – 184Histidine box-15
Motifi217 – 221Histidine box-25
Motifi382 – 386Histidine box-35

Domaini

The histidine box domains may contain the active site and/or be involved in metal ion binding.

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4232 Eukaryota
ENOG410XVSZ LUCA
GeneTreeiENSGT00510000046574
HOGENOMiHOG000012997
HOVERGENiHBG002839
InParanoidiO95864
KOiK10226
OMAiMESIAWF
OrthoDBiEOG091G0E0W
PhylomeDBiO95864
TreeFamiTF313604

Family and domain databases

Gene3Di3.10.120.10, 1 hit
InterProiView protein in InterPro
IPR001199 Cyt_B5-like_heme/steroid-bd
IPR036400 Cyt_B5-like_heme/steroid_sf
IPR005804 FA_desaturase_dom
IPR012171 Fatty_acid_desaturase
PfamiView protein in Pfam
PF00173 Cyt-b5, 1 hit
PF00487 FA_desaturase, 1 hit
PIRSFiPIRSF015921 FA_sphinglp_des, 1 hit
SMARTiView protein in SMART
SM01117 Cyt-b5, 1 hit
SUPFAMiSSF55856 SSF55856, 1 hit
PROSITEiView protein in PROSITE
PS50255 CYTOCHROME_B5_2, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95864-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGKGGNQGEG AAEREVSVPT FSWEEIQKHN LRTDRWLVID RKVYNITKWS
60 70 80 90 100
IQHPGGQRVI GHYAGEDATD AFRAFHPDLE FVGKFLKPLL IGELAPEEPS
110 120 130 140 150
QDHGKNSKIT EDFRALRKTA EDMNLFKTNH VFFLLLLAHI IALESIAWFT
160 170 180 190 200
VFYFGNGWIP TLITAFVLAT SQAQAGWLQH DYGHLSVYRK PKWNHLVHKF
210 220 230 240 250
VIGHLKGASA NWWNHRHFQH HAKPNIFHKD PDVNMLHVFV LGEWQPIEYG
260 270 280 290 300
KKKLKYLPYN HQHEYFFLIG PPLLIPMYFQ YQIIMTMIVH KNWVDLAWAV
310 320 330 340 350
SYYIRFFITY IPFYGILGAL LFLNFIRFLE SHWFVWVTQM NHIVMEIDQE
360 370 380 390 400
AYRDWFSSQL TATCNVEQSF FNDWFSGHLN FQIEHHLFPT MPRHNLHKIA
410 420 430 440
PLVKSLCAKH GIEYQEKPLL RALLDIIRSL KKSGKLWLDA YLHK
Length:444
Mass (Da):52,259
Last modified:May 1, 1999 - v1
Checksum:iF65CE58076961A7A
GO
Isoform 2 (identifier: O95864-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-69: MGKGGNQGEG...IGHYAGEDAT → MHGREAGPFV...SAGHPITGQQ

Show »
Length:422
Mass (Da):49,326
Checksum:iA4A7EB76FBF1FFA4
GO
Isoform 3 (identifier: O95864-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     386-444: HLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK → Q

Note: No experimental confirmation available.
Show »
Length:386
Mass (Da):45,524
Checksum:i2A18FA9CBFBFE432
GO
Isoform 4 (identifier: O95864-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-69: MGKGGNQGEG...IGHYAGEDAT → MTREPPGCRR...HPERWATSSQ

Show »
Length:413
Mass (Da):48,883
Checksum:i3A9CD17C669AE834
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti134 – 137LLLL → RTRG in CAB43280 (PubMed:17974005).Curated4
Sequence conflicti380 – 381NF → SL in BAB55167 (PubMed:14702039).Curated2
Sequence conflicti429 – 431SLK → DLM in CAB43280 (PubMed:17974005).Curated3

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0285681 – 69MGKGG…GEDAT → MHGREAGPFVCVCVLLASIP TPQTPLLQASLPPFHPASAG HPITGQQ in isoform 2. 2 PublicationsAdd BLAST69
Alternative sequenceiVSP_0548091 – 69MGKGG…GEDAT → MTREPPGCRRVNSLMLYTLR SITSHRSSHPERWATSSQ in isoform 4. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_028569386 – 444HLFPT…AYLHK → Q in isoform 3. 1 PublicationAdd BLAST59

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF126799 mRNA Translation: AAD20018.1
AF084559 mRNA Translation: AAG23121.1
AF108658 mRNA Translation: AAG43192.1
AK027513 mRNA Translation: BAB55167.1
AK290291 mRNA Translation: BAF82980.1
AK299762 mRNA Translation: BAH13120.1
AK074939 mRNA Translation: BAC11305.1
AP002380 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW73975.1
BC009011 mRNA Translation: AAH09011.1
AL050118 mRNA Translation: CAB43280.1
BX640945 mRNA Translation: CAE45971.1
CCDSiCCDS60807.1 [O95864-2]
CCDS60808.1 [O95864-4]
CCDS8012.1 [O95864-1]
PIRiT13155
RefSeqiNP_001268430.1, NM_001281501.1 [O95864-2]
NP_001268431.1, NM_001281502.1 [O95864-4]
NP_004256.1, NM_004265.3 [O95864-1]
UniGeneiHs.502745

Genome annotation databases

EnsembliENST00000257261; ENSP00000257261; ENSG00000134824 [O95864-2]
ENST00000278840; ENSP00000278840; ENSG00000134824 [O95864-1]
ENST00000521849; ENSP00000431091; ENSG00000134824 [O95864-3]
ENST00000522056; ENSP00000429500; ENSG00000134824 [O95864-4]
GeneIDi9415
KEGGihsa:9415
UCSCiuc001nsj.4 human [O95864-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiFADS2_HUMAN
AccessioniPrimary (citable) accession number: O95864
Secondary accession number(s): A8K2M6
, B7Z634, Q6MZQ7, Q96H07, Q96SV8, Q9H3G3, Q9Y3X4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 1, 1999
Last modified: March 28, 2018
This is version 142 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

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