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The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]
FAR1 (Fatty Acyl-CoA Reductase 1) is a Protein Coding gene. Diseases associated with FAR1 include Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder and Spasticity. Among its related pathways are Metabolism and Peroxisome. Gene Ontology (GO) annotations related to this gene include coenzyme binding and long-chain-fatty-acyl-CoA reductase activity. An important paralog of this gene is FAR2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016491 | oxidoreductase activity | IEA,TAS | -- |
GO:0080019 | fatty-acyl-CoA reductase (alcohol-forming) activity | IEA,IDA | 15220348 |
GO:0102965 | alcohol-forming fatty acyl-CoA reductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005777 | peroxisome | IDA | 20071337 |
GO:0005778 | peroxisomal membrane | IEA,HDA | 21525035 |
GO:0005779 | integral component of peroxisomal membrane | IDA | 24108123 |
GO:0005782 | peroxisomal matrix | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Peroxisome | ||
3 | Wax biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0008611 | ether lipid biosynthetic process | IMP | 20071337 |
GO:0010025 | wax biosynthetic process | IEA,TAS | -- |
GO:0035336 | long-chain fatty-acyl-CoA metabolic process | IBA,IDA | 15220348 |
GO:0046474 | glycerophospholipid biosynthetic process | IDA | 20071337 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
(2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
(2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
(2E)-Octenoyl-CoA |
|
10018-94-7 |
|
|||
(2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10 | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 15b | ^ | 16 | ^ | 17a | · | 17b | · | 17c |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FAR1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FAR1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FAR1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FAR1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FAR1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Far1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Far1 30 |
|
||
Chicken (Gallus gallus) |
Aves | FAR1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | far1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-97m3.1 30 |
|
||
far1 31 |
|
OneToOne | |||
Dr.20797 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011736 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1443 30 31 |
|
ManyToMany | |
CG10096 31 |
|
ManyToMany | |||
CG1441 31 |
|
ManyToMany | |||
CG30427 31 |
|
ManyToMany | |||
CG4020 31 |
|
ManyToMany | |||
CG8306 31 |
|
ManyToMany | |||
CG17562 31 |
|
ManyToMany | |||
CG5065 31 |
|
ManyToMany | |||
CG17560 31 |
|
ManyToMany | |||
CG12268 31 |
|
ManyToMany | |||
CG14893 31 |
|
ManyToMany | |||
CG10097 31 |
|
ManyToMany | |||
CG4770 31 |
|
ManyToMany | |||
CG13091 31 |
|
ManyToMany | |||
CG18031 31 |
|
ManyToMany | |||
CG8303 31 |
|
ManyToMany | |||
CG34342 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | fard-1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | FAR5 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os04g0354600 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
CSA.10130 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710940 | Likely Benign: not provided | 13,728,666(+) | C/T | SYNONYMOUS_VARIANT | |
718951 | Benign: not provided | 13,710,702(+) | T/C | SYNONYMOUS_VARIANT | |
719360 | Likely Benign: not provided | 13,700,413(+) | G/A | MISSENSE_VARIANT | |
724241 | Likely Benign: not provided | 13,710,711(+) | A/G | SYNONYMOUS_VARIANT | |
732045 | Benign: not provided | 13,712,987(+) | T/C | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
peroxisomal fatty acyl-coa reductase 1 disorder |
|
|
spasticity |
|
|
rhizomelic chondrodysplasia punctata, type 5 |
|
|
epilepsy |
|
|
rhizomelic chondrodysplasia punctata, type 2 |
|
|