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Protein

Fatty acid desaturase 1

Gene

FADS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

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

Enzyme and pathway databases

BioCyciMetaCyc:HS07617-MONOMER
ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-2046105 Linoleic acid (LA) metabolism
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism
UniPathwayi
UPA00658

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

EuPathDBiHostDB:ENSG00000149485.16
HGNCiHGNC:3574 FADS1
MIMi606148 gene
neXtProtiNX_O60427

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 – 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

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 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiO60427
MaxQBiO60427
PaxDbiO60427
PeptideAtlasiO60427
PRIDEiO60427
ProteomicsDBi49399

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 Expressed in 232 organ(s), highest expression level in mammalian vulva
ExpressionAtlasiO60427 baseline and differential
GenevisibleiO60427 HS

Organism-specific databases

HPAiHPA042705

Interactioni

Protein-protein interaction databases

BioGridi110180, 27 interactors
IntActiO60427, 2 interactors
MINTiO60427
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

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
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
PRINTSiPR00363 CYTOCHROMEB5
SMARTiView protein in SMART
SM01117 Cyt-b5, 1 hit
SUPFAMiSSF55856 SSF55856, 1 hit
PROSITEiView protein in PROSITE
PS50255 CYTOCHROME_B5_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 16 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MR51A0A0A0MR51_HUMAN
Fatty acid desaturase 1
FADS1 hCG_40849
501Annotation score:
F5H3U5F5H3U5_HUMAN
Fatty acid desaturase 1
FADS1
192Annotation score:
C9JJB3C9JJB3_HUMAN
Fatty acid desaturase 1
FADS1
139Annotation score:
F5H3P6F5H3P6_HUMAN
Fatty acid desaturase 1
FADS1
146Annotation score:
F5GWE3F5GWE3_HUMAN
Fatty acid desaturase 1
FADS1
165Annotation score:
F5GYH4F5GYH4_HUMAN
Fatty acid desaturase 1
FADS1
153Annotation score:
F5H852F5H852_HUMAN
Fatty acid desaturase 1
FADS1
164Annotation score:
H7C2V0H7C2V0_HUMAN
Fatty acid desaturase 1
FADS1
228Annotation score:
H0YB97H0YB97_HUMAN
Fatty acid desaturase 1
FADS1
175Annotation score:
F5H8G5F5H8G5_HUMAN
Fatty acid desaturase 1
FADS1
124Annotation score:
There are more potential isoformsShow all

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 → S1 PublicationCorresponds to variant dbSNP:rs17856235Ensembl.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

Similar proteinsi

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, 27 interactors
IntActiO60427, 2 interactors
MINTiO60427
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
ProteomicsDBi49399

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
EuPathDBiHostDB:ENSG00000149485.16
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

UniPathwayi
UPA00658

BioCyciMetaCyc: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
PROiPR:O60427
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149485 Expressed in 232 organ(s), highest expression level in mammalian vulva
ExpressionAtlasiO60427 baseline and differential
GenevisibleiO60427 HS

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
PRINTSiPR00363 CYTOCHROMEB5
SMARTiView protein in SMART
SM01117 Cyt-b5, 1 hit
SUPFAMiSSF55856 SSF55856, 1 hit
PROSITEiView protein in PROSITE
PS50255 CYTOCHROME_B5_2, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: December 11, 2013
Last modified: September 12, 2018
This is version 156 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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