UniProtKB - Q8WVX9 (FACR1_HUMAN)
Protein
Fatty acyl-CoA reductase 1
Gene
FAR1
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity).By similarity3 Publications
Catalytic activityi
- a long-chain fatty acyl-CoA + 2 H+ + 2 NADPH = a long-chain primary fatty alcohol + CoA + 2 NADP+1 PublicationEC:1.2.1.841 PublicationThis reaction proceeds in the forward1 Publication direction.
- EC:1.2.1.842 PublicationsThis reaction proceeds in the forward2 Publications direction.
- EC:1.2.1.84By similarityThis reaction proceeds in the forwardBy similarity direction.
- This reaction proceeds in the forwardBy similarity direction.
- (9Z,12Z)-octadecadienoyl-CoA + 2 H+ + 2 NADPH = (9Z,12Z)-octadecadien-1-ol + CoA + 2 NADP+By similarityThis reaction proceeds in the forwardBy similarity direction.
GO - Molecular functioni
- alcohol-forming fatty acyl-CoA reductase activity Source: UniProtKB-EC
- fatty-acyl-CoA reductase (alcohol-forming) activity Source: UniProtKB
- oxidoreductase activity Source: Reactome
GO - Biological processi
- ether lipid biosynthetic process Source: UniProtKB
- glycerophospholipid biosynthetic process Source: UniProtKB
- long-chain fatty-acyl-CoA metabolic process Source: UniProtKB
- wax biosynthetic process Source: UniProtKB
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Lipid biosynthesis, Lipid metabolism |
Ligand | NADP |
Enzyme and pathway databases
BioCyci | MetaCyc:HS16231-MONOMER |
BRENDAi | 1.2.1.50, 2681 |
PathwayCommonsi | Q8WVX9 |
Reactomei | R-HSA-9640463, Wax biosynthesis |
Chemistry databases
SwissLipidsi | SLP:000000208 |
Names & Taxonomyi
Protein namesi | Recommended name: Fatty acyl-CoA reductase 11 Publication (EC:1.2.1.842 Publications)Alternative name(s): Male sterility domain-containing protein 2Imported |
Gene namesi | ORF Names:UNQ2423/PRO4981Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000197601.12 |
HGNCi | HGNC:26222, FAR1 |
MIMi | 616107, gene |
neXtProti | NX_Q8WVX9 |
Subcellular locationi
Peroxisome
- Peroxisome membrane 1 Publication; Single-pass membrane protein 1 Publication
Peroxisome
- integral component of peroxisomal membrane Source: UniProtKB
- peroxisomal matrix Source: Reactome
- peroxisomal membrane Source: UniProtKB
- peroxisome Source: UniProtKB
Other locations
- intracellular membrane-bounded organelle Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 465 | Cytoplasmic1 PublicationAdd BLAST | 465 | |
Transmembranei | 466 – 483 | HelicalSequence analysisAdd BLAST | 18 | |
Topological domaini | 484 – 515 | Peroxisomal1 PublicationAdd BLAST | 32 |
Keywords - Cellular componenti
Membrane, PeroxisomePathology & Biotechi
Involvement in diseasei
Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072692 | 165 – 169 | EVVYP → D in PFCRD; results in a complete loss of enzyme activity. 1 Publication | 5 | |
Natural variantiVAR_072693 | 365 | D → G in PFCRD; results in a complete loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs724159963EnsemblClinVar. | 1 |
Keywords - Diseasei
Cataract, Disease mutation, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 84188 |
MalaCardsi | FAR1 |
MIMi | 616154, phenotype |
OpenTargetsi | ENSG00000197601 |
Orphaneti | 438178, Fatty acyl-CoA reductase 1 deficiency |
PharmGKBi | PA162388007 |
Miscellaneous databases
Pharosi | Q8WVX9, Tbio |
Polymorphism and mutation databases
BioMutai | FAR1 |
DMDMi | 74730902 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000261394 | 1 – 515 | Fatty acyl-CoA reductase 1Add BLAST | 515 |
Proteomic databases
EPDi | Q8WVX9 |
jPOSTi | Q8WVX9 |
MassIVEi | Q8WVX9 |
MaxQBi | Q8WVX9 |
PaxDbi | Q8WVX9 |
PeptideAtlasi | Q8WVX9 |
PRIDEi | Q8WVX9 |
ProteomicsDBi | 74834 |
PTM databases
iPTMneti | Q8WVX9 |
PhosphoSitePlusi | Q8WVX9 |
SwissPalmi | Q8WVX9 |
Expressioni
Inductioni
Down-regulated by ether lipids/plasmalogen that induce its degradation (at protein level).2 Publications
Gene expression databases
Bgeei | ENSG00000197601, Expressed in corpus callosum and 216 other tissues |
ExpressionAtlasi | Q8WVX9, baseline and differential |
Genevisiblei | Q8WVX9, HS |
Organism-specific databases
HPAi | ENSG00000197601, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with PEX19; PEX19 mediates the targeting of FAR1 to peroxisomes.
1 PublicationProtein-protein interaction databases
BioGRIDi | 123936, 46 interactors |
IntActi | Q8WVX9, 35 interactors |
MINTi | Q8WVX9 |
STRINGi | 9606.ENSP00000346874 |
Miscellaneous databases
RNActi | Q8WVX9, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 451 – 507 | Necessary and sufficient for PEX19-mediated localization into peroxisome membrane1 PublicationAdd BLAST | 57 |
Sequence similaritiesi
Belongs to the fatty acyl-CoA reductase family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1221, Eukaryota |
GeneTreei | ENSGT00390000006367 |
HOGENOMi | CLU_024661_0_0_1 |
InParanoidi | Q8WVX9 |
OMAi | QPYTFYG |
PhylomeDBi | Q8WVX9 |
TreeFami | TF313011 |
Family and domain databases
CDDi | cd09071, FAR_C, 1 hit |
InterProi | View protein in InterPro IPR026055, FAR IPR033640, FAR_C IPR013120, Male_sterile_NAD-bd IPR036291, NAD(P)-bd_dom_sf |
PANTHERi | PTHR11011, PTHR11011, 1 hit |
Pfami | View protein in Pfam PF07993, NAD_binding_4, 1 hit PF03015, Sterile, 1 hit |
SUPFAMi | SSF51735, SSF51735, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q8WVX9-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MVSIPEYYEG KNVLLTGATG FLGKVLLEKL LRSCPKVNSV YVLVRQKAGQ
60 70 80 90 100
TPQERVEEVL SGKLFDRLRD ENPDFREKII AINSELTQPK LALSEEDKEV
110 120 130 140 150
IIDSTNIIFH CAATVRFNEN LRDAVQLNVI ATRQLILLAQ QMKNLEVFMH
160 170 180 190 200
VSTAYAYCNR KHIDEVVYPP PVDPKKLIDS LEWMDDGLVN DITPKLIGDR
210 220 230 240 250
PNTYIYTKAL AEYVVQQEGA KLNVAIVRPS IVGASWKEPF PGWIDNFNGP
260 270 280 290 300
SGLFIAAGKG ILRTIRASNN ALADLVPVDV VVNMSLAAAW YSGVNRPRNI
310 320 330 340 350
MVYNCTTGST NPFHWGEVEY HVISTFKRNP LEQAFRRPNV NLTSNHLLYH
360 370 380 390 400
YWIAVSHKAP AFLYDIYLRM TGRSPRMMKT ITRLHKAMVF LEYFTSNSWV
410 420 430 440 450
WNTENVNMLM NQLNPEDKKT FNIDVRQLHW AEYIENYCLG TKKYVLNEEM
460 470 480 490 500
SGLPAARKHL NKLRNIRYGF NTILVILIWR IFIARSQMAR NIWYFVVSLC
510
YKFLSYFRAS STMRY
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PNW8 | E9PNW8_HUMAN | Fatty acyl-CoA reductase | FAR1 | 335 | Annotation score: | ||
E9PPB8 | E9PPB8_HUMAN | Fatty acyl-CoA reductase 1 | FAR1 | 139 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 275 – 276 | LV → PG in CAI56762 (PubMed:17974005).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053800 | 96 | E → K. Corresponds to variant dbSNP:rs12793516EnsemblClinVar. | 1 | |
Natural variantiVAR_072692 | 165 – 169 | EVVYP → D in PFCRD; results in a complete loss of enzyme activity. 1 Publication | 5 | |
Natural variantiVAR_072693 | 365 | D → G in PFCRD; results in a complete loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs724159963EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY600449 mRNA Translation: AAT42129.1 AY423606 mRNA Translation: AAR84086.1 AY358784 mRNA Translation: AAQ89144.1 CR936619 mRNA Translation: CAI56762.1 CH471064 Genomic DNA Translation: EAW68492.1 CH471064 Genomic DNA Translation: EAW68493.1 BC017377 mRNA Translation: AAH17377.1 |
CCDSi | CCDS7813.1 |
RefSeqi | NP_115604.1, NM_032228.5 |
Genome annotation databases
Ensembli | ENST00000354817; ENSP00000346874; ENSG00000197601 |
GeneIDi | 84188 |
KEGGi | hsa:84188 |
UCSCi | uc001mld.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY600449 mRNA Translation: AAT42129.1 AY423606 mRNA Translation: AAR84086.1 AY358784 mRNA Translation: AAQ89144.1 CR936619 mRNA Translation: CAI56762.1 CH471064 Genomic DNA Translation: EAW68492.1 CH471064 Genomic DNA Translation: EAW68493.1 BC017377 mRNA Translation: AAH17377.1 |
CCDSi | CCDS7813.1 |
RefSeqi | NP_115604.1, NM_032228.5 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123936, 46 interactors |
IntActi | Q8WVX9, 35 interactors |
MINTi | Q8WVX9 |
STRINGi | 9606.ENSP00000346874 |
Chemistry databases
SwissLipidsi | SLP:000000208 |
PTM databases
iPTMneti | Q8WVX9 |
PhosphoSitePlusi | Q8WVX9 |
SwissPalmi | Q8WVX9 |
Polymorphism and mutation databases
BioMutai | FAR1 |
DMDMi | 74730902 |
Proteomic databases
EPDi | Q8WVX9 |
jPOSTi | Q8WVX9 |
MassIVEi | Q8WVX9 |
MaxQBi | Q8WVX9 |
PaxDbi | Q8WVX9 |
PeptideAtlasi | Q8WVX9 |
PRIDEi | Q8WVX9 |
ProteomicsDBi | 74834 |
Protocols and materials databases
Antibodypediai | 2735, 40 antibodies |
DNASUi | 84188 |
Genome annotation databases
Ensembli | ENST00000354817; ENSP00000346874; ENSG00000197601 |
GeneIDi | 84188 |
KEGGi | hsa:84188 |
UCSCi | uc001mld.4, human |
Organism-specific databases
CTDi | 84188 |
DisGeNETi | 84188 |
EuPathDBi | HostDB:ENSG00000197601.12 |
GeneCardsi | FAR1 |
HGNCi | HGNC:26222, FAR1 |
HPAi | ENSG00000197601, Low tissue specificity |
MalaCardsi | FAR1 |
MIMi | 616107, gene 616154, phenotype |
neXtProti | NX_Q8WVX9 |
OpenTargetsi | ENSG00000197601 |
Orphaneti | 438178, Fatty acyl-CoA reductase 1 deficiency |
PharmGKBi | PA162388007 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1221, Eukaryota |
GeneTreei | ENSGT00390000006367 |
HOGENOMi | CLU_024661_0_0_1 |
InParanoidi | Q8WVX9 |
OMAi | QPYTFYG |
PhylomeDBi | Q8WVX9 |
TreeFami | TF313011 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS16231-MONOMER |
BRENDAi | 1.2.1.50, 2681 |
PathwayCommonsi | Q8WVX9 |
Reactomei | R-HSA-9640463, Wax biosynthesis |
Miscellaneous databases
BioGRID-ORCSi | 84188, 10 hits in 852 CRISPR screens |
ChiTaRSi | FAR1, human |
GeneWikii | MLSTD2 |
GenomeRNAii | 84188 |
Pharosi | Q8WVX9, Tbio |
PROi | PR:Q8WVX9 |
RNActi | Q8WVX9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000197601, Expressed in corpus callosum and 216 other tissues |
ExpressionAtlasi | Q8WVX9, baseline and differential |
Genevisiblei | Q8WVX9, HS |
Family and domain databases
CDDi | cd09071, FAR_C, 1 hit |
InterProi | View protein in InterPro IPR026055, FAR IPR033640, FAR_C IPR013120, Male_sterile_NAD-bd IPR036291, NAD(P)-bd_dom_sf |
PANTHERi | PTHR11011, PTHR11011, 1 hit |
Pfami | View protein in Pfam PF07993, NAD_binding_4, 1 hit PF03015, Sterile, 1 hit |
SUPFAMi | SSF51735, SSF51735, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FACR1_HUMAN | |
Accessioni | Q8WVX9Primary (citable) accession number: Q8WVX9 Secondary accession number(s): D3DQW8, Q5CZA3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 28, 2006 |
Last sequence update: | March 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 152 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations