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FAR1 fatty acyl-CoA reductase 1 [ Homo sapiens (human) ]

Gene ID: 84188, updated on 9-Feb-2020

Summary

Official Symbol
FAR1provided by HGNC
Official Full Name
fatty acyl-CoA reductase 1provided by HGNC
Primary source
HGNC:HGNC:26222
See related
Ensembl:ENSG00000197601 MIM:616107
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PFCRD; MLSTD2; SDR10E1
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]
Expression
Ubiquitous expression in esophagus (RPKM 26.7), stomach (RPKM 25.1) and 24 other tissues See more
Orthologs

Genomic context

See FAR1 in Genome Data Viewer
Location:
11p15.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (13668666..13732346)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (13690206..13753893)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene PTH negative calcium response element (nCARE) region Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 36 Neighboring gene ribosomal protein L39 pseudogene 26 Neighboring gene centromere protein U pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2548 Neighboring gene long intergenic non-protein coding RNA 2545

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22728, FLJ33561, DKFZp686A0370, DKFZp686P18247

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alcohol-forming fatty acyl-CoA reductase activity IEA
Inferred from Electronic Annotation
more info
 
fatty-acyl-CoA reductase (alcohol-forming) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty-acyl-CoA reductase (alcohol-forming) activity IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
ether lipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
ether lipid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycerophospholipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty-acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain fatty-acyl-CoA metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
wax biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
wax biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisomal membrane HDA PubMed 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
fatty acyl-CoA reductase 1
Names
male sterility domain-containing protein 2
short chain dehydrogenase/reductase family 10E, member 1
NP_115604.1
XP_011518702.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041826.1 RefSeqGene

    Range
    5010..68688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032228.6NP_115604.1  fatty acyl-CoA reductase 1

    See identical proteins and their annotated locations for NP_115604.1

    Status: REVIEWED

    Source sequence(s)
    BC017377, BX648892, DA515509
    Consensus CDS
    CCDS7813.1
    UniProtKB/Swiss-Prot
    Q8WVX9
    Related
    ENSP00000346874.3, ENST00000354817.8
    Conserved Domains (3) summary
    cd05236
    Location:11330
    FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs
    PLN02996
    Location:2446
    PLN02996; fatty acyl-CoA reductase
    pfam03015
    Location:357447
    Sterile; Male sterility protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    13668666..13732346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520400.2XP_011518702.1  fatty acyl-CoA reductase 1 isoform X1

    Conserved Domains (3) summary
    cd05236
    Location:11333
    FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs
    PLN02996
    Location:2449
    PLN02996; fatty acyl-CoA reductase
    pfam03015
    Location:360450
    Sterile; Male sterility protein
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