FAR1 - fatty acyl-CoA reductase 1 Gene

中文名称：脂肪酰辅酶 A 还原酶 1

种属: Homo sapiens

同用名: CSPSD; PFCRD; MLSTD2; SDR10E1

基因 ID: 84188 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是将脂肪酸还原为脂肪醇所必需的，这是合成单酯和醚脂所需的过程。该反应需要 NADPH 作为辅助因子，16-18 碳饱和和不饱和脂肪酸是首选底物。这是一种过氧化物酶体膜蛋白，研究表明其 N 端包含位于过氧化物酶体外部的大催化结构域，而 C 端则暴露在过氧化物酶体的基质中。研究表明，这种蛋白质的调节取决于缩醛磷脂水平。该基因的突变与受严重智力障碍、早发性癫痫、小头畸形、先天性白内障、生长迟缓和痉挛影响的个体有关 (PMID: 25439727) 。该基因的假基因位于 13 号染色体上。[RefSeq 提供，2015 年 1 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables alcohol-forming very long-chain fatty acyl-CoA reductase activity	IDA IDA: 通过直接分析推断	15220348	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32814053	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in ether lipid biosynthetic process	IDA IDA: 通过直接分析推断	24108123	GOA
involved in ether lipid biosynthetic process	IMP IMP: 通过突变表型推断	20071337	GOA
involved in glycerophospholipid biosynthetic process	IDA IDA: 通过直接分析推断	20071337	GOA
involved in long-chain fatty-acyl-CoA metabolic process	IDA IDA: 通过直接分析推断	15220348	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in peroxisomal membrane	IDA IDA: 通过直接分析推断	24108123	GOA
located in peroxisome	IDA IDA: 通过直接分析推断	20071337	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FAR1 蛋白结构

NAD_binding_4

Sterile

0
100
200
300
400
515 a.a.

蛋白主名

其他名称

fatty acyl-CoA reductase 1

male sterility domain-containing protein 2

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04744	FAR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS18239	Far1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS24718	Far1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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