• Gene id: 84188

Gene Summary

• Gene Symbol: FAR1   Gene   UCSC   Ensembl
• Aliases: MLSTD2, PFCRD, SDR10E1
• Gene name: fatty acyl-CoA reductase 1
• Alternate names: fatty acyl-CoA reductase 1, male sterility domain-containing protein 2, short chain dehydrogenase/reductase family 10E, member 1,
• Gene location: 11p15.3 (13668665: 13732345)     Exons: 12     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 616107

Protein Summary

• Protein general information: Q8WVX9  
  • Name: Fatty acyl CoA reductase 1 (EC 1.2.1.84) (Male sterility domain containing protein 2)
  • Length: 515  
  • Mass: 59357
• Sequence:

  MVSIPEYYEGKNVLLTGATGFLGKVLLEKLLRSCPKVNSVYVLVRQKAGQTPQERVEEVLSGKLFDRLRDENPDF
  REKIIAINSELTQPKLALSEEDKEVIIDSTNIIFHCAATVRFNENLRDAVQLNVIATRQLILLAQQMKNLEVFMH
  VSTAYAYCNRKHIDEVVYPPPVDPKKLIDSLEWMDDGLVNDITPKLIGDRPNTYIYTKALAEYVVQQEGAKLNVA
  IVRPSIVGASWKEPFPGWIDNFNGPSGLFIAAGKGILRTIRASNNALADLVPVDVVVNMSLAAAWYSGVNRPRNI
  MVYNCTTGSTNPFHWGEVEYHVISTFKRNPLEQAFRRPNVNLTSNHLLYHYWIAVSHKAPAFLYDIYLRMTGRSP
  RMMKTITRLHKAMVFLEYFTSNSWVWNTENVNMLMNQLNPEDKKTFNIDVRQLHWAEYIENYCLGTKKYVLNEEM
  SGLPAARKHLNKLRNIRYGFNTILVILIWRIFIARSQMARNIWYFVVSLCYKFLSYFRASSTMRY

• Structural information:
  • Interpro: IPR026055  IPR033640  IPR013120  IPR036291  
  • CDD: cd09071
  • STRING: ENSP00000346874
• Other Databases: GeneCards:  FAR1  Malacards:  FAR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005777	peroxisome	IBA	cellular component
GO:0035336	long-chain fatty-acyl-CoA metabolic process	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0080019	fatty-acyl-CoA reductase (alcohol-forming) activity	IBA	molecular function
GO:0080019	fatty-acyl-CoA reductase (alcohol-forming) activity	IDA	molecular function
GO:0008611	ether lipid biosynthetic process	IDA	biological process
GO:0005779	integral component of peroxisomal membrane	IDA	cellular component
GO:0010025	wax biosynthetic process	ISS	biological process
GO:0080019	fatty-acyl-CoA reductase (alcohol-forming) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0102965	alcohol-forming fatty acyl-CoA reductase activity	IEA	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0010025	wax biosynthetic process	TAS	biological process
GO:0016491	oxidoreductase activity	TAS	molecular function
GO:0010025	wax biosynthetic process	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0080019	fatty-acyl-CoA reductase (alcohol-forming) activity	IEA	molecular function
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0046474	glycerophospholipid biosynthetic process	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0080019	fatty-acyl-CoA reductase (alcohol-forming) activity	IDA	molecular function
GO:0080019	fatty-acyl-CoA reductase (alcohol-forming) activity	IDA	molecular function
GO:0035336	long-chain fatty-acyl-CoA metabolic process	IDA	biological process
GO:0005778	peroxisomal membrane	HDA	cellular component
GO:0008611	ether lipid biosynthetic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Rhizomelic chondrodysplasia punctata	KEGG:H00207
Peroxisomal fatty acyl-CoA reductase 1 disorder	KEGG:H02100
Rhizomelic chondrodysplasia punctata	KEGG:H00207
Peroxisomal fatty acyl-CoA reductase 1 disorder	KEGG:H02100
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R