MGP Database

MGP006116

Record overview

MGPD ID	MGP006116
Gene ID	84188
Species	Homo sapiens (Human)
Gene Name	fatty acyl CoA reductase 1
Gene Symbol	FAR1
Synonyms	PFCRD; MLSTD2; SDR10E1;
Alternate names	fatty acyl-CoA reductase 1; male sterility domain-containing protein 2; short chain dehydrogenase/reductase family 10E, member 1;
Chromosome	11
Map Location	11p15.2
EC Number	1.2.1.n2
Summary	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]
Orthologs	View orthologs and multiple alignments for FAR1

Proteins

fatty acyl-CoA reductase 1

Refseq ID:	NP_115604
Protein GI:	24308324
UniProt ID:	Q8WVX9
mRNA ID:	NM_032228
Length:	515
RefSeq Status:

MVSIPEYYEGKNVLLTGATGFLGKVLLEKLLRSCPKVNSVYVLVRQKAGQTPQERVEEVLSGKLFDRLRDENPDFREKIIAINSELTQPKLALSEEDKEV
IIDSTNIIFHCAATVRFNENLRDAVQLNVIATRQLILLAQQMKNLEVFMHVSTAYAYCNRKHIDEVVYPPPVDPKKLIDSLEWMDDGLVNDITPKLIGDR
PNTYIYTKALAEYVVQQEGAKLNVAIVRPSIVGASWKEPFPGWIDNFNGPSGLFIAAGKGILRTIRASNNALADLVPVDVVVNMSLAAAWYSGVNRPRNI
MVYNCTTGSTNPFHWGEVEYHVISTFKRNPLEQAFRRPNVNLTSNHLLYHYWIAVSHKAPAFLYDIYLRMTGRSPRMMKTITRLHKAMVFLEYFTSNSWV
WNTENVNMLMNQLNPEDKKTFNIDVRQLHWAEYIENYCLGTKKYVLNEEMSGLPAARKHLNKLRNIRYGFNTILVILIWRIFIARSQMARNIWYFVVSLC
YKFLSYFRASSTMRY