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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 fatty acyl-CoA with chain length C16 or C18 to fatty alcohols.1 Publication

Catalytic activityi

Hexadecanal + CoA + NADP+ = hexadecanoyl-CoA + NADPH.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: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism

Keywords - Ligandi

NADP

Enzyme and pathway databases

BRENDAi1.2.1.50. 2681.
ReactomeiR-HSA-8848584. Wax biosynthesis.

Chemistry

SwissLipidsiSLP:000000208.

Names & Taxonomyi

Protein namesi
Recommended name:
Fatty acyl-CoA reductase 1 (EC:1.2.1.n2)
Alternative name(s):
Male sterility domain-containing protein 2
Gene namesi
Name:FAR1
Synonyms:MLSTD2
ORF Names:UNQ2423/PRO4981
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:26222. FAR1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 465465PeroxisomalSequence analysisAdd
BLAST
Transmembranei466 – 48318HelicalSequence analysisAdd
BLAST
Topological domaini484 – 51532CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • peroxisomal matrix Source: Reactome
  • peroxisomal membrane Source: UniProtKB
  • peroxisome Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti165 – 1695EVVYP → D in PFCRD; results in a complete loss of enzyme activity. 1 Publication
VAR_072692
Natural varianti365 – 3651D → G in PFCRD; results in a complete loss of enzyme activity. 1 Publication
Corresponds to variant rs724159963 [ dbSNP | Ensembl ].
VAR_072693

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

MalaCardsiFAR1.
MIMi616154. phenotype.
PharmGKBiPA162388007.

Polymorphism and mutation databases

BioMutaiFAR1.
DMDMi74730902.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 515515Fatty acyl-CoA reductase 1PRO_0000261394Add
BLAST

Proteomic databases

EPDiQ8WVX9.
MaxQBiQ8WVX9.
PaxDbiQ8WVX9.
PeptideAtlasiQ8WVX9.
PRIDEiQ8WVX9.

PTM databases

iPTMnetiQ8WVX9.
PhosphoSiteiQ8WVX9.
SwissPalmiQ8WVX9.

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiHPA017322.

Interactioni

Subunit structurei

Interacts (via C-terminus) with PEX19, the interaction is required for targeting to peroxisomes.1 Publication

Protein-protein interaction databases

BioGridi123936. 11 interactions.
IntActiQ8WVX9. 8 interactions.
STRINGi9606.ENSP00000346874.

Structurei

3D structure databases

ProteinModelPortaliQ8WVX9.
SMRiQ8WVX9. Positions 9-154.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

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.
OMAiSINIIFH.
OrthoDBiEOG091G062W.
PhylomeDBiQ8WVX9.
TreeFamiTF313011.

Family and domain databases

CDDicd09071. FAR_C. 1 hit.
Gene3Di3.40.50.720. 2 hits.
InterProiIPR026055. FAR.
IPR033640. FAR_C.
IPR013120. Male_sterile_NAD-bd.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PANTHERiPTHR11011. PTHR11011. 1 hit.
PfamiPF07993. NAD_binding_4. 1 hit.
PF03015. Sterile. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti275 – 2762LV → PG in CAI56762 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961E → K.
Corresponds to variant rs12793516 [ dbSNP | Ensembl ].
VAR_053800
Natural varianti165 – 1695EVVYP → D in PFCRD; results in a complete loss of enzyme activity. 1 Publication
VAR_072692
Natural varianti365 – 3651D → G in PFCRD; results in a complete loss of enzyme activity. 1 Publication
Corresponds to variant rs724159963 [ dbSNP | Ensembl ].
VAR_072693

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

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.
CCDSiCCDS7813.1.
RefSeqiNP_115604.1. NM_032228.5.
UniGeneiHs.501991.

3D structure databases

ProteinModelPortaliQ8WVX9.
SMRiQ8WVX9. Positions 9-154.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123936. 11 interactions.
IntActiQ8WVX9. 8 interactions.
STRINGi9606.ENSP00000346874.

Chemistry

SwissLipidsiSLP:000000208.

PTM databases

iPTMnetiQ8WVX9.
PhosphoSiteiQ8WVX9.
SwissPalmiQ8WVX9.

Polymorphism and mutation databases

BioMutaiFAR1.
DMDMi74730902.

Proteomic databases

EPDiQ8WVX9.
MaxQBiQ8WVX9.
PaxDbiQ8WVX9.
PeptideAtlasiQ8WVX9.
PRIDEiQ8WVX9.

Protocols and materials databases

DNASUi84188.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi84188.
GeneCardsiFAR1.
HGNCiHGNC:26222. FAR1.
HPAiHPA017322.
MalaCardsiFAR1.
MIMi616107. gene.
616154. phenotype.
neXtProtiNX_Q8WVX9.
PharmGKBiPA162388007.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BRENDAi1.2.1.50. 2681.
ReactomeiR-HSA-8848584. Wax biosynthesis.

Miscellaneous databases

ChiTaRSiFAR1. human.
GeneWikiiMLSTD2.
GenomeRNAii84188.
PROiQ8WVX9.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

CDDicd09071. FAR_C. 1 hit.
Gene3Di3.40.50.720. 2 hits.
InterProiIPR026055. FAR.
IPR033640. FAR_C.
IPR013120. Male_sterile_NAD-bd.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PANTHERiPTHR11011. PTHR11011. 1 hit.
PfamiPF07993. NAD_binding_4. 1 hit.
PF03015. Sterile. 1 hit.
[Graphical view]
SUPFAMiSSF51735. SSF51735. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiFACR1_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 118 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. 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

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.