FAR1

UniProt ID: Q8WVX9
Organism: Homo sapiens
Review Status: COMPLETE
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Gene Description

FAR1 (fatty acyl-CoA reductase 1) is an NADPH-dependent, peroxisomal-membrane oxidoreductase that catalyzes the two-step reduction of long-chain fatty acyl-CoA (preferring saturated and unsaturated C16 and C18 species such as palmitoyl-, stearoyl- and oleoyl-CoA) to the corresponding primary fatty alcohol, with release of CoA (EC 1.2.1.84). It is a C-terminally tail-anchored, single-pass peroxisomal membrane protein whose targeting is mediated by the PEX19 receptor, with a large cytoplasmic catalytic domain. The fatty alcohols it produces are the committed precursors for ether-lipid (plasmalogen) biosynthesis, where alkyl-dihydroxyacetone-phosphate synthase (AGPS) uses them to form the characteristic ether bond; FAR1 is the rate-limiting enzyme of this pathway and is feedback-regulated by cellular plasmalogen levels through modulation of its protein stability. Its fatty alcohol product also feeds wax monoester synthesis. Loss-of-function of FAR1 causes an autosomal-recessive peroxisomal disorder (severe intellectual disability, epilepsy, cataracts), and gain-of-function variants that escape plasmalogen feedback cause an autosomal-dominant cataract/spastic-paraparesis syndrome.

Existing Annotations Review

GO Term Evidence Action Reason
GO:0005778 peroxisomal membrane
IBA
GO_REF:0000033
ACCEPT
Summary: FAR1 is a single-pass peroxisomal membrane protein; the phylogenetic (IBA) assignment of peroxisomal membrane as its active-in location is correct and represents a core aspect of the gene. Directly supported by experimental data (tail-anchored peroxisomal membrane protein).
Supporting Evidence:
PMID:24108123
Far1 is shown to be a peroxisomal tail-anchored protein
GO:0080019 alcohol-forming very long-chain fatty acyl-CoA reductase activity
IBA
GO_REF:0000033
MARK AS OVER ANNOTATED
Summary: The alcohol-forming acyl-CoA reductase activity type is correct, but the chain-length specialization is wrong for human FAR1: this term is for VERY long-chain (>22C) substrates, whereas FAR1 preferentially reduces C16/C18 (long-chain, 13-22C) fatty acyl-CoA. The very-long-chain term is a family-level (phylogenetic) over-annotation; the correct, experimentally supported term is GO:0102965 (alcohol-forming long-chain fatty acyl-CoA reductase activity).
Propagation Review
Root cause: TERM SCOPING PROBLEM
Failure modes: GRANULARITY MISMATCH WRONG ORTHOLOG OR PARALOG
Sources checked:
PANTHER:PTN000110226 Β· fatty acyl-CoA reductase family node (includes plant/insect FARs acting on very-long-chain substrates) SUPPORTS SOURCE BUT NOT TARGET
Supporting Evidence:
file:human/FAR1/FAR1-uniprot.txt
Catalyzes the reduction of saturated and unsaturated C16 or
GO:0035336 long-chain fatty-acyl-CoA metabolic process
IBA
GO_REF:0000033
KEEP AS NON CORE
Summary: FAR1 consumes long-chain (C16/C18) fatty acyl-CoA as its substrate, so participation in long-chain fatty-acyl-CoA metabolic process is correct. This is a somewhat generic process descriptor; the core biological role is better captured by ether lipid biosynthesis, but the annotation is valid.
Supporting Evidence:
PMID:15220348
FAR1 preferred saturated
GO:0005777 peroxisome
IEA
GO_REF:0000117
ACCEPT
Summary: Peroxisome localization is the correct, experimentally established location of FAR1. This electronic annotation is redundant with, and supported by, the IDA/HPA peroxisome annotations; accept as a core cellular component.
Supporting Evidence:
PMID:15220348
were localized in the peroxisome
GO:0005778 peroxisomal membrane
IEA
GO_REF:0000044
ACCEPT
Summary: Peroxisomal membrane is the correct location of this single-pass tail-anchored membrane protein. This Subcellular-Location-mapping IEA is redundant with the IDA/HDA evidence; accept as a core cellular component.
Supporting Evidence:
file:human/FAR1/FAR1-uniprot.txt
Single-pass membrane protein
GO:0008610 lipid biosynthetic process
IEA
GO_REF:0000117
MARK AS OVER ANNOTATED
Summary: A very high-level parent term. FAR1 does participate in lipid biosynthesis, but this generic ARBA-derived annotation is uninformative and redundant with the specific ether-lipid / wax / glycerophospholipid biosynthetic process annotations.
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor
IEA
GO_REF:0000117
MARK AS OVER ANNOTATED
Summary: This term describes oxidation of an aldehyde/oxo donor with NAD(P) as acceptor. The physiological FAR1 reaction reduces fatty acyl-CoA (with NADPH as donor) to a fatty alcohol; the aldehyde is a transient intermediate and the acceptor/donor direction of this generic term does not accurately capture the enzyme's function. Better captured by the specific alcohol-forming acyl-CoA reductase term (GO:0102965). Generic ARBA over-annotation.
GO:0080019 alcohol-forming very long-chain fatty acyl-CoA reductase activity
IEA
GO_REF:0000002
MARK AS OVER ANNOTATED
Summary: Same issue as the IBA assignment of this term: the InterPro family maps to alcohol-forming acyl-CoA reductase activity, but human FAR1 prefers C16/C18 (long-chain) rather than very-long-chain (>22C) substrates. The correct term is GO:0102965.
Supporting Evidence:
file:human/FAR1/FAR1-uniprot.txt
Catalyzes the reduction of saturated and unsaturated C16 or
GO:0102965 alcohol-forming long-chain fatty acyl-CoA reductase activity
IEA
GO_REF:0000120
ACCEPT
Summary: This is the correct core molecular function of FAR1: alcohol-forming long-chain (C16/C18) fatty acyl-CoA reductase activity (EC 1.2.1.84). This electronic (RHEA/EC-based) annotation agrees with the experimental IDA annotations; accept as the core function.
Supporting Evidence:
file:human/FAR1/FAR1-uniprot.txt
Reaction=a long-chain fatty acyl-CoA + 2 NADPH + 2 H(+) = a long-chain
GO:1901568 fatty acid derivative metabolic process
IEA
GO_REF:0000117
MARK AS OVER ANNOTATED
Summary: Generic high-level process term. FAR1's product (fatty alcohol) is a fatty acid derivative, so the annotation is not wrong, but it is uninformative and redundant with the specific biosynthetic-process annotations. Generic ARBA over-annotation.
GO:0005515 protein binding
IPI
PMID:32814053
Interactome Mapping Provides a Network of Neurodegenerative ...
REMOVE
Summary: Bare 'protein binding' from a large-scale yeast two-hybrid interactome (IntAct records with KLF11, a BAG6 isoform, and a COL26A1 isoform). These high-throughput interactions have no established biological role for FAR1 and the term is uninformative. Removal does not mean the interactions are false, only that no informative molecular function follows from them. The functionally meaningful interaction (PEX19, for peroxisomal targeting) is a distinct, literature-curated interaction (PMID:24108123).
GO:0010025 wax biosynthetic process
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: FAR1's fatty-alcohol product is a precursor for wax monoester synthesis; wax biosynthetic process is a valid downstream role, largely inferred from the mouse ortholog and Reactome. It is not the primary (ether-lipid) role in human, so keep as non-core.
Supporting Evidence:
file:human/FAR1/FAR1-uniprot.txt
also required for wax monoesters
GO:0010025 wax biosynthetic process
TAS
Reactome:R-HSA-9640463
KEEP AS NON CORE
Summary: Same wax biosynthetic role, asserted by Reactome. Valid downstream use of the fatty-alcohol product; keep as non-core (the principal human role is ether-lipid/plasmalogen biosynthesis).
Supporting Evidence:
Reactome:R-HSA-9640463
FAR1 and FAR2 catalyze the reduction of fatty acids to fatty alcohols
GO:0005777 peroxisome
IDA
GO_REF:0000052
ACCEPT
Summary: Immunofluorescence (HPA) localization to the peroxisome; consistent with confocal microscopy in the original characterization and with the membrane-topology study. Core cellular component.
Supporting Evidence:
PMID:15220348
were localized in the peroxisome
GO:0102965 alcohol-forming long-chain fatty acyl-CoA reductase activity
IDA
PMID:15220348
Mammalian wax biosynthesis. I. Identification of two fatty a...
ACCEPT
Summary: Direct experimental demonstration that FAR1 reduces C16/C18 fatty acyl-CoA to fatty alcohols in an NADPH-dependent manner. This is the core molecular function of the gene.
Supporting Evidence:
PMID:15220348
FAR1 preferred saturated
GO:0102965 alcohol-forming long-chain fatty acyl-CoA reductase activity
IDA
PMID:20071337
Posttranslational regulation of fatty acyl-CoA reductase 1, ...
ACCEPT
Summary: Direct evidence supporting the alcohol-forming long-chain fatty acyl-CoA reductase activity of FAR1 (fatty-alcohol supply for ether-bond formation). Core molecular function.
Supporting Evidence:
PMID:20071337
supplies the fatty alcohols used in the
GO:0102965 alcohol-forming long-chain fatty acyl-CoA reductase activity
IDA
PMID:24108123
Topogenesis and homeostasis of fatty acyl-CoA reductase 1.
ACCEPT
Summary: Direct evidence for FAR1's alcohol-forming fatty acyl-CoA reductase activity (Far1 expression increases plasmalogen synthesis; rate-limiting enzyme). Core molecular function.
Supporting Evidence:
PMID:24108123
Far1 is a rate-limiting enzyme for plasmalogen synthesis
GO:0016491 oxidoreductase activity
TAS
Reactome:R-HSA-390425
KEEP AS NON CORE
Summary: FAR1 is an oxidoreductase; this Reactome-asserted parent term is correct but very generic. The specific molecular function (GO:0102965) is preferred; keep this general term as non-core.
Supporting Evidence:
Reactome:R-HSA-390425
FAR1 catalyzes the reaction of palmitoyl-CoA (PalmCoA) and 2 NADPH
GO:0005778 peroxisomal membrane
TAS
Reactome:R-HSA-390425
ACCEPT
Summary: Peroxisomal membrane localization asserted by Reactome; correct and consistent with the experimental topology data. Core cellular component.
Supporting Evidence:
PMID:24108123
Far1 is shown to be a peroxisomal tail-anchored protein
GO:0010025 wax biosynthetic process
ISS
GO_REF:0000024
KEEP AS NON CORE
Summary: Wax biosynthetic role inferred by sequence similarity from the mouse ortholog (Q922J9). Valid downstream use of the fatty-alcohol product; keep as non-core (ether-lipid biosynthesis is the primary human role).
Supporting Evidence:
file:human/FAR1/FAR1-uniprot.txt
also required for wax monoesters
GO:0005778 peroxisomal membrane
IDA
PMID:24108123
Topogenesis and homeostasis of fatty acyl-CoA reductase 1.
ACCEPT
Summary: Direct experimental evidence that FAR1 is a peroxisomal tail-anchored, single-pass membrane protein targeted via PEX19. Core cellular component.
Supporting Evidence:
PMID:24108123
Far1 is shown to be a peroxisomal tail-anchored protein
GO:0008611 ether lipid biosynthetic process
IDA
PMID:24108123
Topogenesis and homeostasis of fatty acyl-CoA reductase 1.
ACCEPT
Summary: Direct evidence that FAR1 is required for and rate-limiting in ether lipid/plasmalogen biosynthesis (Far1 supplies the fatty alcohols for ether-bond formation; its expression increases plasmalogen synthesis). This is the core biological process of the gene.
Supporting Evidence:
PMID:24108123
Peroxisomal fatty acyl-CoA reductase 1 (Far1) is essential for supplying fatty alcohols required for ether bond formation in ether glycerophospholipid synthesis
GO:0008611 ether lipid biosynthetic process
IMP
PMID:20071337
Posttranslational regulation of fatty acyl-CoA reductase 1, ...
ACCEPT
Summary: Manipulation of Far1 (levels/activity modulated by plasmalogen feedback) controls ether glycerophospholipid synthesis, supporting involvement in ether lipid biosynthesis. Core biological process.
Supporting Evidence:
PMID:20071337
supplies the fatty alcohols used in the
GO:0035336 long-chain fatty-acyl-CoA metabolic process
IDA
PMID:15220348
Mammalian wax biosynthesis. I. Identification of two fatty a...
KEEP AS NON CORE
Summary: FAR1 acts on long-chain (C16/C18) fatty acyl-CoA substrates, consistent with participation in long-chain fatty-acyl-CoA metabolic process. Correct but generic process descriptor; keep as non-core relative to ether-lipid biosynthesis.
Supporting Evidence:
PMID:15220348
FAR1 preferred saturated
GO:0046474 glycerophospholipid biosynthetic process
IDA
PMID:20071337
Posttranslational regulation of fatty acyl-CoA reductase 1, ...
KEEP AS NON CORE
Summary: Ether glycerophospholipids (plasmalogens) are glycerophospholipids, so this annotation is correct; it is a more general parent of the ether-lipid-specific process. Keep as non-core; the specific term GO:0008611 better captures the role.
Supporting Evidence:
PMID:20071337
supplies the fatty alcohols used in the
GO:0005777 peroxisome
IDA
PMID:20071337
Posttranslational regulation of fatty acyl-CoA reductase 1, ...
ACCEPT
Summary: Direct experimental localization of Far1 to the peroxisome. Core cellular component.
Supporting Evidence:
PMID:15220348
were localized in the peroxisome
GO:0005778 peroxisomal membrane
HDA
PMID:21525035
PEX14 is required for microtubule-based peroxisome motility ...
ACCEPT
Summary: FAR1 was identified in native peroxisomal membrane protein complexes isolated from human cells by proteomics, corroborating its peroxisomal membrane localization. Core cellular component.
Supporting Evidence:
PMID:21525035
isolating native peroxisomal membrane

Core Functions

NADPH-dependent reduction of long-chain (C16/C18) fatty acyl-CoA to the corresponding primary fatty alcohol (EC 1.2.1.84), the committed step that supplies fatty alcohols for ether-lipid biosynthesis.

Supporting Evidence:
  • PMID:15220348
    FAR1 preferred saturated
  • file:human/FAR1/FAR1-uniprot.txt
    Reaction=a long-chain fatty acyl-CoA + 2 NADPH + 2 H(+) = a long-chain

As the rate-limiting enzyme supplying fatty alcohols, FAR1 drives ether-lipid (plasmalogen) biosynthesis, acting at the peroxisomal membrane; its product is used by AGPS to form the ether bond.

Supporting Evidence:

References

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Suggested Questions for Experts

Q: What senses cellular plasmalogen levels to trigger FAR1 degradation, and how do the de novo Arg480 variants (autosomal-dominant spastic paraparesis with cataracts) escape this feedback while leaving catalysis intact?

Q: Does FAR2 compensate for FAR1 loss in any tissue, explaining the residual plasmalogen synthesis seen in some FAR1-deficient patients?

Suggested Experiments

Experiment: Map the plasmalogen-dependent degron of FAR1 by testing degradation of Arg480 and C-terminal-region variants in plasmalogen-replete versus plasmalogen-deficient cells, with proteasome and ERAD/peroxisomal-membrane quality-control inhibitors.

πŸ“š Additional Documentation

Notes

(FAR1-notes.md)

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