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Protein

Fatty acid desaturase 1

Gene

FADS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Isoform 2 does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity (By similarity). Isoform 1 is a 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 desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3), respectively.By similarity2 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

  • C-5 sterol desaturase activity Source: ProtInc
  • omega-6 fatty acid desaturase activity Source: Reactome
  • oxidoreductase activity Source: UniProtKB

GO - Biological processi

  • alpha-linolenic acid metabolic process Source: Reactome
  • cell-cell signaling Source: UniProtKB
  • cellular response to starvation Source: UniProtKB
  • icosanoid biosynthetic process Source: UniProtKB
  • linoleic acid metabolic process Source: Reactome
  • phospholipid biosynthetic process Source: UniProtKB
  • regulation of cell differentiation Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • unsaturated fatty acid biosynthetic process Source: UniProtKB
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:HS07617-MONOMER.
ZFISH:HS07617-MONOMER.
ReactomeiR-HSA-1989781. PPARA activates gene expression.
R-HSA-2046105. Linoleic acid (LA) metabolism.
R-HSA-2046106. alpha-linolenic acid (ALA) metabolism.
UniPathwayiUPA00658.

Chemistry databases

SwissLipidsiSLP:000000368.

Names & Taxonomyi

Protein namesi
Recommended name:
Fatty acid desaturase 1 (EC:1.14.19.-)
Alternative name(s):
Delta(5) fatty acid desaturase
Short name:
D5D
Short name:
Delta(5) desaturase
Short name:
Delta-5 desaturase
Gene namesi
Name:FADS1
Synonyms:FADSD5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:3574. FADS1.

Subcellular locationi

Isoform 1 :
Isoform 2 :
  • Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 121CytoplasmicSequence analysisAdd BLAST121
Transmembranei122 – 142HelicalSequence analysisAdd BLAST21
Topological domaini143 – 145LumenalSequence analysis3
Transmembranei146 – 170HelicalSequence analysisAdd BLAST25
Topological domaini171 – 267CytoplasmicSequence analysisAdd BLAST97
Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
Topological domaini289 – 305LumenalSequence analysisAdd BLAST17
Transmembranei306 – 326HelicalSequence analysisAdd BLAST21
Topological domaini327 – 444CytoplasmicSequence analysisAdd BLAST118

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: Reactome
  • integral component of membrane Source: UniProtKB
  • intracellular membrane-bounded organelle Source: UniProtKB
  • membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi3992.
OpenTargetsiENSG00000149485.
PharmGKBiPA27973.

Chemistry databases

ChEMBLiCHEMBL5840.
DrugBankiDB00132. Alpha-Linolenic Acid.
DB00159. Icosapent.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003070961 – 444Fatty acid desaturase 1Add BLAST444

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiO60427.
MaxQBiO60427.
PaxDbiO60427.
PeptideAtlasiO60427.
PRIDEiO60427.

PTM databases

iPTMnetiO60427.
PhosphoSitePlusiO60427.

Expressioni

Tissue specificityi

Widely expressed, with highest levels in liver, brain, adrenal gland and heart. Highly expressed in fetal liver and brain.3 Publications

Inductioni

Strongly down-regulated upon differentiation in a neuroblastoma cell line (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000149485.
ExpressionAtlasiO60427. baseline and differential.
GenevisibleiO60427. HS.

Organism-specific databases

HPAiHPA042705.

Interactioni

Protein-protein interaction databases

BioGridi110180. 18 interactors.
IntActiO60427. 2 interactors.
STRINGi9606.ENSP00000322229.

Chemistry databases

BindingDBiO60427.

Structurei

3D structure databases

ProteinModelPortaliO60427.
SMRiO60427.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini17 – 94Cytochrome b5 heme-bindingPROSITE-ProRule annotationAdd BLAST78

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi179 – 183Histidine box-15
Motifi216 – 220Histidine 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.
InParanoidiO60427.
KOiK10224.
PhylomeDBiO60427.
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.
PRINTSiPR00363. CYTOCHROMEB5.
SMARTiSM01117. Cyt-b5. 1 hit.
[Graphical view]
SUPFAMiSSF55856. SSF55856. 1 hit.
PROSITEiPS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60427-1) [UniParc]FASTAAdd to basket
Also known as: FADS1CS

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
MAPDPVAAET AAQGPTPRYF TWDEVAQRSG CEERWLVIDR KVYNISEFTR
60 70 80 90 100
RHPGGSRVIS HYAGQDATDP FVAFHINKGL VKKYMNSLLI GELSPEQPSF
110 120 130 140 150
EPTKNKELTD EFRELRATVE RMGLMKANHV FFLLYLLHIL LLDGAAWLTL
160 170 180 190 200
WVFGTSFLPF LLCAVLLSAV QAQAGWLQHD FGHLSVFSTS KWNHLLHHFV
210 220 230 240 250
IGHLKGAPAS WWNHMHFQHH AKPNCFRKDP DINMHPFFFA LGKILSVELG
260 270 280 290 300
KQKKKYMPYN HQHKYFFLIG PPALLPLYFQ WYIFYFVIQR KKWVDLAWMI
310 320 330 340 350
TFYVRFFLTY VPLLGLKAFL GLFFIVRFLE SNWFVWVTQM NHIPMHIDHD
360 370 380 390 400
RNMDWVSTQL QATCNVHKSA FNDWFSGHLN FQIEHHLFPT MPRHNYHKVA
410 420 430 440
PLVQSLCAKH GIEYQSKPLL SAFADIIHSL KESGQLWLDA YLHQ
Length:444
Mass (Da):51,964
Last modified:December 11, 2013 - v3
Checksum:iCC3C28D82AA49BF2
GO
Isoform 2 (identifier: O60427-2) [UniParc]FASTAAdd to basket
Also known as: FADS1AT1

The sequence of this isoform differs from the canonical sequence as follows:
     1-84: Missing.

Note: No experimental confirmation available.
Show »
Length:360
Mass (Da):42,474
Checksum:iCD55B8317E4BF21E
GO

Sequence cautioni

The sequence BAC11182 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC11229 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6V → L in AAF29378 (PubMed:16554811).Curated1
Sequence conflicti9E → G in BAB55103 (PubMed:10601301).Curated1
Sequence conflicti15P → L in AAF29378 (PubMed:16554811).Curated1
Sequence conflicti100F → L in BAC11182 (PubMed:10601301).Curated1
Sequence conflicti143D → E in BAC11182 (PubMed:10601301).Curated1
Sequence conflicti180D → G in BAD96626 (PubMed:17974005).Curated1
Sequence conflicti212W → R in BAB55173 (PubMed:10601301).Curated1
Sequence conflicti213N → S in BAC11182 (PubMed:10601301).Curated1
Sequence conflicti255K → N in AAF29378 (PubMed:16554811).Curated1
Sequence conflicti319F → L in BAB55103 (PubMed:10601301).Curated1
Sequence conflicti361Q → L in AAF70457 (PubMed:15489334).Curated1
Sequence conflicti381F → S in BAC11229 (PubMed:10601301).Curated1
Sequence conflicti410H → R in AAF70457 (PubMed:15489334).Curated1
Sequence conflicti431K → E in BAC11229 (PubMed:10601301).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035340272P → S.1 PublicationCorresponds to variant rs17856235dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0475211 – 84Missing in isoform 2. 1 PublicationAdd BLAST84

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027427 mRNA. Translation: BAB55103.1.
AK027522 mRNA. Translation: BAB55173.1.
AK074754 mRNA. Translation: BAC11182.1. Different initiation.
AK074819 mRNA. Translation: BAC11229.1. Different initiation.
AK096275 mRNA. Translation: BAG53244.1.
AK289552 mRNA. Translation: BAF82241.1.
AK314199 mRNA. Translation: BAG36877.1.
AC004770 Genomic DNA. Translation: AAC23397.1.
AP002380 Genomic DNA. No translation available.
AF084558 mRNA. Translation: AAG23120.1.
AL512760 mRNA. Translation: CAC21679.1.
AL834479 mRNA. Translation: CAD39138.1.
AK222906 mRNA. Translation: BAD96626.1.
BC007846 mRNA. Translation: AAH07846.1.
AF199596 mRNA. Translation: AAF29378.1.
AF226273 mRNA. Translation: AAF70457.1.
RefSeqiNP_037534.3. NM_013402.4.
UniGeneiHs.503546.

Genome annotation databases

EnsembliENST00000433932; ENSP00000405087; ENSG00000149485. [O60427-2]
ENST00000542506; ENSP00000441403; ENSG00000149485. [O60427-2]
GeneIDi3992.
KEGGihsa:3992.
UCSCiuc010rln.2. human. [O60427-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027427 mRNA. Translation: BAB55103.1.
AK027522 mRNA. Translation: BAB55173.1.
AK074754 mRNA. Translation: BAC11182.1. Different initiation.
AK074819 mRNA. Translation: BAC11229.1. Different initiation.
AK096275 mRNA. Translation: BAG53244.1.
AK289552 mRNA. Translation: BAF82241.1.
AK314199 mRNA. Translation: BAG36877.1.
AC004770 Genomic DNA. Translation: AAC23397.1.
AP002380 Genomic DNA. No translation available.
AF084558 mRNA. Translation: AAG23120.1.
AL512760 mRNA. Translation: CAC21679.1.
AL834479 mRNA. Translation: CAD39138.1.
AK222906 mRNA. Translation: BAD96626.1.
BC007846 mRNA. Translation: AAH07846.1.
AF199596 mRNA. Translation: AAF29378.1.
AF226273 mRNA. Translation: AAF70457.1.
RefSeqiNP_037534.3. NM_013402.4.
UniGeneiHs.503546.

3D structure databases

ProteinModelPortaliO60427.
SMRiO60427.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110180. 18 interactors.
IntActiO60427. 2 interactors.
STRINGi9606.ENSP00000322229.

Chemistry databases

BindingDBiO60427.
ChEMBLiCHEMBL5840.
DrugBankiDB00132. Alpha-Linolenic Acid.
DB00159. Icosapent.
SwissLipidsiSLP:000000368.

PTM databases

iPTMnetiO60427.
PhosphoSitePlusiO60427.

Proteomic databases

EPDiO60427.
MaxQBiO60427.
PaxDbiO60427.
PeptideAtlasiO60427.
PRIDEiO60427.

Protocols and materials databases

DNASUi3992.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000433932; ENSP00000405087; ENSG00000149485. [O60427-2]
ENST00000542506; ENSP00000441403; ENSG00000149485. [O60427-2]
GeneIDi3992.
KEGGihsa:3992.
UCSCiuc010rln.2. human. [O60427-1]

Organism-specific databases

CTDi3992.
DisGeNETi3992.
GeneCardsiFADS1.
HGNCiHGNC:3574. FADS1.
HPAiHPA042705.
MIMi606148. gene.
neXtProtiNX_O60427.
OpenTargetsiENSG00000149485.
PharmGKBiPA27973.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4232. Eukaryota.
ENOG410XVSZ. LUCA.
GeneTreeiENSGT00510000046574.
HOGENOMiHOG000012997.
HOVERGENiHBG002839.
InParanoidiO60427.
KOiK10224.
PhylomeDBiO60427.
TreeFamiTF313604.

Enzyme and pathway databases

UniPathwayiUPA00658.
BioCyciMetaCyc:HS07617-MONOMER.
ZFISH:HS07617-MONOMER.
ReactomeiR-HSA-1989781. PPARA activates gene expression.
R-HSA-2046105. Linoleic acid (LA) metabolism.
R-HSA-2046106. alpha-linolenic acid (ALA) metabolism.

Miscellaneous databases

ChiTaRSiFADS1. human.
GeneWikiiFADS1.
GenomeRNAii3992.
PROiO60427.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149485.
ExpressionAtlasiO60427. baseline and differential.
GenevisibleiO60427. 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.
PRINTSiPR00363. CYTOCHROMEB5.
SMARTiSM01117. Cyt-b5. 1 hit.
[Graphical view]
SUPFAMiSSF55856. SSF55856. 1 hit.
PROSITEiPS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFADS1_HUMAN
AccessioniPrimary (citable) accession number: O60427
Secondary accession number(s): A8K0I7
, B2RAI0, Q53GM5, Q8N3A6, Q8NCC7, Q8NCG0, Q96I39, Q96SV3, Q96T10, Q9NRP8, Q9NYX1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: December 11, 2013
Last modified: November 30, 2016
This is version 143 of the entry and version 3 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. 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.