FAR1
entrez
84188
canonical
uniprot
Q8WVX9
canonical
ensembl
ENSG00000197601
resolver
ensp
ENSP00000346874
resolver
ensp
ENSP00000515269
resolver
ensp
ENSP00000519436
resolver
ensp
ENSP00000519445
resolver
ensp
ENSP00000519446
resolver
ensp
ENSP00000577389
resolver
ensp
ENSP00000577391
resolver
ensp
ENSP00000599745
resolver
ensp
ENSP00000639321
resolver
ensp
ENSP00000639322
resolver
ensp
ENSP00000639323
resolver
ensp
ENSP00000639324
resolver
enst
ENST00000354817
resolver
enst
ENST00000714147
resolver
enst
ENST00000714156
resolver
enst
ENST00000714157
resolver
enst
ENST00000929686
resolver
enst
ENST00000969262
resolver
enst
ENST00000969263
resolver
enst
ENST00000969264
resolver
enst
ENST00000969265
resolver
genesymbol
FAR1
resolver
genesymbol_syn
MLSTD2
resolver
hgnc
HGNC:26222
resolver
uniprot
A0AAQ5BHL4
resolver
uniprot
A0AAQ5BHN8
resolver
uniprot
D3DQW8
resolver
uniprot
Q5CZA3
resolver
uniprot_entry
A0AAQ5BHL4_HUMAN
resolver
uniprot_entry
A0AAQ5BHN8_HUMAN
resolver
uniprot_entry
FACR1_HUMAN
resolver
uniprot_sec
D3DQW8
resolver
uniprot_sec
Q5CZA3
resolver
amino_acid_sequence
MVSIPEYYEGKNVLLTGATGFLGKVLLEKLLRSCPKVNSVYVLVRQKAGQTPQERVEEVLSGKLFDRLRDENPDFREKIIAINSELTQPKLALSEEDKEVIIDSTNIIFHCAATVRFNENLRDAVQLNVIATRQLILLAQQMKNLEVFMHVSTAYAYCNRKHIDEVVYPPPVDPKKLIDSLEWMDDGLVNDITPKLIGDRPNTYIYTKALAEYVVQQEGAKLNVAIVRPSIVGASWKEPFPGWIDNFNGPSGLFIAAGKGILRTIRASNNALADLVPVDVVVNMSLAAAWYSGVNRPRNIMVYNCTTGSTNPFHWGEVEYHVISTFKRNPLEQAFRRPNVNLTSNHLLYHYWIAVSHKAPAFLYDIYLRMTGRSPRMMKTITRLHKAMVFLEYFTSNSWVWNTENVNMLMNQLNPEDKKTFNIDVRQLHWAEYIENYCLGTKKYVLNEEMSGLPAARKHLNKLRNIRYGFNTILVILIWRIFIARSQMARNIWYFVVSLCYKFLSYFRASSTMRY
uniprot
proteins
disease_involvement
DISEASE: Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD) [MIM:616154]: An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. {ECO:0000269|PubMed:25439727}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cataracts, spastic paraparesis, and speech delay (CSPSD) [MIM:619338]: An autosomal dominant disease characterized by bilateral cataracts apparent at birth or in infancy, spastic paraparesis, truncal hypotonia, delayed psychomotor development, and speech delay. {ECO:0000269|PubMed:33239752}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.1.84
uniprot
proteins
function
FUNCTION: Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123, PubMed:35238077). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123, PubMed:33239752). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity) (PubMed:24108123, PubMed:35238077). {ECO:0000250|UniProtKB:Q922J9, ECO:0000269|PubMed:15220348, ECO:0000269|PubMed:20071337, ECO:0000269|PubMed:24108123, ECO:0000269|PubMed:33239752, ECO:0000269|PubMed:35238077}.
uniprot
proteins
mass_dalton
59357
uniprot
proteins
protein_family
Fatty acyl-CoA reductase family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15220348
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20071337
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24108123
uniprot
proteins
pubmed
25439727
uniprot
proteins
pubmed
33239752
uniprot
proteins
pubmed
35238077
uniprot
proteins
sequence_length
515
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:24108123}; Single-pass membrane protein {ECO:0000269|PubMed:24108123}.
uniprot
proteins
transmembrane_region
TRANSMEM 466..483; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins