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Protein

Fatty acid desaturase 2

Gene

FADS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.
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

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS05918-MONOMER.
ZFISH: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

HGNCiHGNC:3575. FADS2.

Subcellular locationi

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

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: Reactome
  • integral component of plasma membrane Source: ProtInc
  • membrane Source: UniProtKB
Complete GO annotation...

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. 8 interactors.
IntActiO95864. 8 interactors.
MINTiMINT-2866355.
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

Contains 1 cytochrome b5 heme-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di3.10.120.10. 1 hit.
InterProiIPR001199. Cyt_B5-like_heme/steroid-bd.
IPR005804. FA_desaturase_dom.
IPR012171. Fatty_acid_desaturase.
[Graphical view]
PfamiPF00173. Cyt-b5. 1 hit.
PF00487. FA_desaturase. 1 hit.
[Graphical view]
PIRSFiPIRSF015921. FA_sphinglp_des. 1 hit.
SMARTiSM01117. Cyt-b5. 1 hit.
[Graphical view]
SUPFAMiSSF55856. SSF55856. 1 hit.
PROSITEiPS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view]

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliO95864.
SMRiO95864.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114810. 8 interactors.
IntActiO95864. 8 interactors.
MINTiMINT-2866355.
STRINGi9606.ENSP00000278840.

Chemistry databases

BindingDBiO95864.
ChEMBLiCHEMBL6097.
DrugBankiDB00132. Alpha-Linolenic Acid.
SwissLipidsiSLP:000000275.

PTM databases

iPTMnetiO95864.
PhosphoSitePlusiO95864.
SwissPalmiO95864.

Proteomic databases

EPDiO95864.
MaxQBiO95864.
PaxDbiO95864.
PeptideAtlasiO95864.
PRIDEiO95864.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi9415.
DisGeNETi9415.
GeneCardsiFADS2.
HGNCiHGNC:3575. FADS2.
HPAiHPA006741.
MIMi606149. gene.
neXtProtiNX_O95864.
OpenTargetsiENSG00000134824.
PharmGKBiPA27974.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiFADS2. human.
GeneWikiiFADS2.
GenomeRNAii9415.
PROiO95864.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134824.
CleanExiHS_FADS2.
ExpressionAtlasiO95864. baseline and differential.
GenevisibleiO95864. HS.

Family and domain databases

Gene3Di3.10.120.10. 1 hit.
InterProiIPR001199. Cyt_B5-like_heme/steroid-bd.
IPR005804. FA_desaturase_dom.
IPR012171. Fatty_acid_desaturase.
[Graphical view]
PfamiPF00173. Cyt-b5. 1 hit.
PF00487. FA_desaturase. 1 hit.
[Graphical view]
PIRSFiPIRSF015921. FA_sphinglp_des. 1 hit.
SMARTiSM01117. Cyt-b5. 1 hit.
[Graphical view]
SUPFAMiSSF55856. SSF55856. 1 hit.
PROSITEiPS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFADS2_HUMAN
AccessioniPrimary (citable) accession number: O95864
Secondary accession number(s): A8K2M6
, B7Z634, Q6MZQ7, Q96H07, Q96SV8, Q9H3G3, Q9Y3X4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 1, 1999
Last modified: November 30, 2016
This is version 134 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.