FAR1 - fatty acyl-CoA reductase 1 Gene

Also Known as CSPSD; PFCRD; MLSTD2; SDR10E1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84188

About FAR1

Cytogenetic location: 11p15.3 Genomic coordinates (GRCh38): 11:13,668,668-13,732,346 (from NCBI)

This gene has 7 transcripts (splice variants), 246 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in esophagus (RPKM 26.7), stomach (RPKM 25.1) and 24 other tissues.

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]

FAR1 Products (1)

mRNA	Protein	Name
NM_032228.6	NP_115604.1	fatty acyl-CoA reductase 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alcohol-forming very long-chain fatty acyl-CoA reductase activity	IDA IDA: Inferred from direct assay	15220348	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ether lipid biosynthetic process	IDA IDA: Inferred from direct assay	24108123	GOA
involved in ether lipid biosynthetic process	IMP IMP: Inferred from mutant phenotype	20071337	GOA
involved in glycerophospholipid biosynthetic process	IDA IDA: Inferred from direct assay	20071337	GOA
involved in long-chain fatty-acyl-CoA metabolic process	IDA IDA: Inferred from direct assay	15220348	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	24108123	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	20071337	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAR1 Protein Structure

NAD_binding_4

Sterile

0
100
200
300
400
515 a.a.

Protein Preferred Names	Protein Names
fatty acyl-CoA reductase 1	male sterility domain-containing protein 2

Related Diseases

Diseases	Alias
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	PFCRD Fatty Acyl-Coa Reductase 1 Deficiency Far1 Deficiency
Cataracts, Spastic Paraparesis, And Speech Delay	CSPSD Spastic Paraparesis-Cataracts-Speech Delay Syndrome Fatty Acyl-Coa Reductase 1 Superactivity
Spastic Paraplegia 9a, Autosomal Dominant	Hereditary Spastic Paraplegia 9a SPG9A Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities Ad-Spg9a Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux Autosomal Dominant Complex Spastic Paraplegia Type 9a Autosomal Dominant Spastic Paraplegia 9a Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux Autosomal Dominant Spastic Paraplegia Type 9a Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux Spastic Paraplegia 9, Autosomal Dominant
Rhizomelic Chondrodysplasia Punctata, Type 5	Rhizomelic Chondrodysplasia Punctata Type 5 RCDP5 Rhizomelic Chondrodysplasia Punctata 5 Chondrodysplasia Punctata, Rhizomelic, Type 5
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Spasticity
Spastic Paraplegia 83, Autosomal Recessive	SPG83 Hereditary Spastic Paraplegia 83 Spastic Paraplegia 83 Autosomal Recessive Doid:0112346 Paraplegia, Spastic, Type 83, Autosomal Recessive
Spastic Paraplegia 81, Autosomal Recessive	SPG81 Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction Hereditary Spastic Paraplegia 81 Spastic Paraplegia 81 Autosomal Recessive Doid:0112349
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelic Chondrodysplasia Punctata Type 2 Dihydroxyacetonephosphate Acyltransferase Deficiency RCDP2 Dhapat Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Chondrodysplasia Punctata, Rhizomelic, Type 2 Rhizomelic Chondrodysplasia Punctata 2
Chondrodysplasia Punctata Syndrome	Chondrodysplasia Punctata Chondrodysplasia Punctata Congenita Toriello Higgins Miller Syndrome Chondrodysplasia Punctata, Toriello Type Toriello-Higgins-Miller Syndrome Cdp Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata Group Dysplasia Punctata Epiphysis Dysplasia Punctata Dysplasia Epiphysealis Punctata Chondrodystrophy Of Punctata
Spastic Paraparesis
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04744	FAR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18239	Far1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24718	Far1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FAR1	MGD	MGI:1914670
Bos taurus	FAR1	VGNC	VGNC:28863
Rattus norvegicus	FAR1	RGD	RGD:1306647
Macaca mulatta	FAR1	VGNC	VGNC:103817
Felis catus	FAR1	VGNC	VGNC:62147
Canis familiaris	FAR1	VGNC	VGNC:40728
Others	FAR1	NCBI