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

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; AllianceGenome:HGNC:26222
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: CSPSD; 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: mouse all
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Genomic context

Location:: 11p15.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (13668668..13732346)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (13760976..13824650)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (13690215..13753893)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Title: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Title: A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Expression of Far1 increased plasmalogen synthesis in wild-type Chinese hamster ovary cells, strongly suggesting that Far1 is a rate-limiting enzyme for plasmalogen synthesis.
Title: Topogenesis and homeostasis of fatty acyl-CoA reductase 1.
ether lipid biosynthesis in mammalian cells is regulated by a negative feedback mechanism that senses cellular plasmalogen levels and appropriately increases or decreases Far1
Title: Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis.
wax monoester synthesis in mammals involves a two step biosynthetic pathway catalyzed by fatty acyl-CoA reductase and wax synthase enzymes
Title: Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family.
fatty alcohol synthesis in mammals is accomplished by two fatty acyl-CoA reductase isozymes that are expressed at high levels in tissues known to synthesize wax monoesters and ether lipids
Title: Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY MedGen: C5543440 OMIM: 619338 GeneReviews: Not available	Compare labs
Fatty acyl-CoA reductase 1 deficiency MedGen: C4015344 OMIM: 616154 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S4062 (e-PCR)
- UniSTS:154144

STS-N63551 (e-PCR)
- UniSTS:66180

RH68662 (e-PCR)
- UniSTS:692

MLSTD2__6323 (e-PCR)
- UniSTS:464056

Clone Names

FLJ22728, FLJ33561, DKFZp686A0370, DKFZp686P18247

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alcohol-forming long-chain fatty acyl-CoA reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables alcohol-forming very long-chain fatty acyl-CoA reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ether lipid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ether lipid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycerophospholipid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in long-chain fatty-acyl-CoA metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-chain fatty-acyl-CoA metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in wax biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in wax biosynthetic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in peroxisomal membrane	HDA more info	PubMed
located_in peroxisomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal membrane	TAS Traceable Author Statement more info
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 1.2.1.84

XP_011518702.1

EC 1.2.1.84

XP_047283646.1

EC 1.2.1.84

XP_054226132.1

EC 1.2.1.84

XP_054226133.1

EC 1.2.1.84

NCBI Reference Sequences (RefSeq)

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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

NG_041826.1 RefSeqGene

Range

5010..68688

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032228.6 → NP_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

D3DQW8, Q5CZA3, Q8WVX9

UniProtKB/TrEMBL

B2RDG1

Related

ENSP00000346874.3, ENST00000354817.8

Conserved Domains (3) summary

cd05236
Location:11 → 330

FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs

PLN02996
Location:2 → 446

PLN02996; fatty acyl-CoA reductase

pfam03015
Location:357 → 447

Sterile; Male sterility protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

13668668..13732346

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011520400.3 → XP_011518702.1 fatty acyl-CoA reductase 1 isoform X1

UniProtKB/TrEMBL

B2RDG1

Conserved Domains (3) summary

cd05236
Location:11 → 333

FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs

PLN02996
Location:2 → 449

PLN02996; fatty acyl-CoA reductase

pfam03015
Location:360 → 450

Sterile; Male sterility protein
XM_047427690.1 → XP_047283646.1 fatty acyl-CoA reductase 1 isoform X2

Related

ENSP00000515269.1, ENST00000703358.1