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Protein

Fatty acyl-CoA reductase 1

Gene

FAR1

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

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 acyl-CoA + 2 NADPH = CoA + a long-chain alcohol + 2 NADP+.1 Publication

GO - Molecular functioni

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 functionOxidoreductase
Biological processLipid biosynthesis, Lipid metabolism
LigandNADP

Enzyme and pathway databases

BioCyciMetaCyc:HS16231-MONOMER.
BRENDAi1.2.1.50. 2681.
ReactomeiR-HSA-8848584. Wax biosynthesis.

Chemistry databases

SwissLipidsiSLP: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
Name:FAR1Imported
Synonyms:MLSTD2Imported
ORF Names:UNQ2423/PRO4981Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000197601.12.
HGNCiHGNC:26222. FAR1.

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 – 465Cytoplasmic1 PublicationAdd BLAST465
Transmembranei466 – 483HelicalSequence analysisAdd BLAST18
Topological domaini484 – 515Peroxisomal1 PublicationAdd BLAST32

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & 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.
See also OMIM:616154
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072692165 – 169EVVYP → D in PFCRD; results in a complete loss of enzyme activity. 1 Publication5
Natural variantiVAR_072693365D → G in PFCRD; results in a complete loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs724159963Ensembl.1

Keywords - Diseasei

Cataract, Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi84188.
MalaCardsiFAR1.
MIMi616154. phenotype.
OpenTargetsiENSG00000197601.
PharmGKBiPA162388007.

Polymorphism and mutation databases

BioMutaiFAR1.
DMDMi74730902.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002613941 – 515Fatty acyl-CoA reductase 1Add BLAST515

Proteomic databases

EPDiQ8WVX9.
MaxQBiQ8WVX9.
PaxDbiQ8WVX9.
PeptideAtlasiQ8WVX9.
PRIDEiQ8WVX9.

PTM databases

iPTMnetiQ8WVX9.
PhosphoSitePlusiQ8WVX9.
SwissPalmiQ8WVX9.

Expressioni

Inductioni

Down-regulated by ether lipids/plasmalogen that induce its degradation (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000197601.
CleanExiHS_FAR1.
ExpressionAtlasiQ8WVX9. baseline and differential.
GenevisibleiQ8WVX9. HS.

Organism-specific databases

HPAiHPA017322.

Interactioni

Subunit structurei

Interacts with PEX19; PEX19 mediates the targeting of FAR1 to peroxisomes.1 Publication

Protein-protein interaction databases

BioGridi123936. 11 interactors.
IntActiQ8WVX9. 23 interactors.
STRINGi9606.ENSP00000346874.

Structurei

3D structure databases

ProteinModelPortaliQ8WVX9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni451 – 507Necessary and sufficient for PEX19-mediated localization into peroxisome membrane1 PublicationAdd BLAST57

Sequence similaritiesi

Belongs to the fatty acyl-CoA reductase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1221. Eukaryota.
ENOG410XS7R. LUCA.
GeneTreeiENSGT00390000006367.
HOGENOMiHOG000261667.
HOVERGENiHBG076152.
InParanoidiQ8WVX9.
KOiK13356.
OMAiQPYTFYG.
OrthoDBiEOG091G062W.
PhylomeDBiQ8WVX9.
TreeFamiTF313011.

Family and domain databases

CDDicd09071. FAR_C. 1 hit.
InterProiView protein in InterPro
IPR026055. FAR.
IPR033640. FAR_C.
IPR013120. Male_sterile_NAD-bd.
IPR036291. NAD(P)-bd_dom_sf.
PANTHERiPTHR11011. PTHR11011. 1 hit.
PfamiView protein in Pfam
PF07993. NAD_binding_4. 1 hit.
PF03015. Sterile. 1 hit.
SUPFAMiSSF51735. SSF51735. 2 hits.

Sequencei

Sequence statusi: Complete.

Q8WVX9-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:515
Mass (Da):59,357
Last modified:March 1, 2002 - v1
Checksum:iEF5CF7CDD161BCD3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti275 – 276LV → PG in CAI56762 (PubMed:17974005).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05380096E → K. Corresponds to variant dbSNP:rs12793516Ensembl.1
Natural variantiVAR_072692165 – 169EVVYP → D in PFCRD; results in a complete loss of enzyme activity. 1 Publication5
Natural variantiVAR_072693365D → G in PFCRD; results in a complete loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs724159963Ensembl.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.
CCDSiCCDS7813.1.
RefSeqiNP_115604.1. NM_032228.5.
UniGeneiHs.501991.

Genome annotation databases

EnsembliENST00000354817; ENSP00000346874; ENSG00000197601.
GeneIDi84188.
KEGGihsa:84188.
UCSCiuc001mld.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFACR1_HUMAN
AccessioniPrimary (citable) accession number: Q8WVX9
Secondary accession number(s): D3DQW8, Q5CZA3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: March 1, 2002
Last modified: October 25, 2017
This is version 130 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. 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. SIMILARITY comments
    Index of protein domains and families