2. Gene
  3. AGPS - alkylglycerone phosphate synthase Gene

AGPS - alkylglycerone phosphate synthase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：烷基甘油磷酸合酶

种属: Homo sapiens

同用名: ADAS; ADPS; RCDP3; ADAP-S; ADHAPS; ALDHPSY

基因 ID: 8540 | 基因类型: protein coding

关于 AGPS

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:177,392,773-177,543,834 (from NCBI)

This gene has 25 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 7.8), endometrium (RPKM 6.7) and 25 other tissues.

功能概要

该基因是 FAD 结合氧化还原酶/转移酶 4 型家族的成员。它编码的蛋白质可催化醚脂生物合成的第二步，其中通过添加长链醇和去除长链酸阴离子将酰基二羟基丙酮磷酸盐 (DHAP) 转化为烷基-DHAP。该蛋白质定位于过氧化物酶体膜的内部，需要 FAD 作为辅助因子。该基因的突变与 3 型根茎点状软骨发育不良和 Zellweger 综合征有关。[RefSeq 提供，2008 年 7 月]

This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]

AGPS 基因产物(1)

mRNA Protein Name
NM_003659.4 NP_003650.1 alkyldihydroxyacetonephosphate synthase, peroxisomal precursor
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 alkylglycerone-phosphate synthase activity IDA
IDA: 通过直接分析推断
8399344 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within lipid biosynthetic process IDA
IDA: 通过直接分析推断
9553082 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in peroxisome IDA
IDA: 通过直接分析推断
9553082 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

AGPS 蛋白结构

FAD_binding_4

FAD_binding_4: FAD binding domain (206 - 345)

FAD-oxidase_C

FAD-oxidase_C: FAD linked oxidases, C-terminal domain (384 - 654)

  • 0
  • 200
  • 400
  • 600
  • 658 a.a.
蛋白主名 其他名称

alkyldihydroxyacetonephosphate synthase, peroxisomal

aging-associated gene 5 protein

AGPS 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra AGPS O00116 GORASP1 Homo sapiens Q9BQQ3
Validated Y2H
32296183
Intra AGPS O00116 GORASP1 Homo sapiens Q9BQQ3
Y2H Array
31515488
Intra AGPS O00116 GORASP1 Homo sapiens Q9BQQ3
Y2H Prey Pooling
32296183
Intra AGPS O00116 GORASP1 Homo sapiens Q9BQQ3
Y2H Array
25416956
Intra AGPS O00116 GORASP1 Homo sapiens Q9BQQ3
Y2H Array
32296183
Intra AGPS O00116 GORASP1 Homo sapiens Q9BQQ3
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Rhizomelic Chondrodysplasia Punctata, Type 3

Rhizomelic Chondrodysplasia Punctata Type 3

RCDP3

Alkyldihydroxyacetonephosphate Synthase Deficiency

Alkylglycerone-Phosphate Synthase Deficiency

Agps Deficiency

Rhizomelic Chondrodysplasia Punctata 3

Chondrodysplasia Punctata, Rhizomelic, Type 3
Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic

Rcdp

Chondrodysplasia Punctata, Rhizomelic Form

Rcp

Chondrodysplasia Punctata Rhizomelic
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
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Peroxisomal Disease

Peroxisomal Disorder

Peroxisomal Disorders

Peroxisomal Defects
Rhizomelic Chondrodysplasia Punctata, Type 5

Rhizomelic Chondrodysplasia Punctata Type 5

RCDP5

Rhizomelic Chondrodysplasia Punctata 5

Chondrodysplasia Punctata, Rhizomelic, Type 5
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
Rhizomelic Chondrodysplasia Punctata, Type 1

Rhizomelic Chondrodysplasia Punctata Type 1

RCDP1

Peroxisome Biogenesis Disorder 9

Pbd9

Chondrodysplasia Punctata, Rhizomelic Form

Cdpr

Chondrodystrophia Calcificans Punctata

Rhizomelic Chondrodysplasia Punctata 1

Chondrodysplasia Punctata, Rhizomelic, Type 1

Chondrodysplasia Punctata, Rhizomelic
Retinal Dystrophy With Leukodystrophy

RDLKD

Acbd5 Deficiency

Dystrophy, Retinal, With Leukodystrophy
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
Refsum Disease, Classic

Refsum Disease

Heredopathia Atactica Polyneuritiformis

Phytanic Acid Oxidase Deficiency

Hmsn Iv

Refsum Disease, Adult, 1

Refsum'S Disease

Phytanic Acid Storage Disease

Hereditary Motor And Sensory Neuropathy Iv

Hmsn4

Hmsn Type Iv

Hmsn 4

Adult Refsum Disease

Classic Refsum Disease

Hereditary Motor And Sensory Neuropathy Type Iv

Refsum Syndrome

Hsmn Iv

Disorder Of Cornification 11

Doc 11

Hereditary Sensory And Motor Neuropathy Type 4

Hypertrophic Neuropathy Of Refsum

Ard

Crd

Hereditary Motor And Sensory Neuropathy Type 4

Phytanic-Coa Hydroxylase Deficiency

RD
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
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
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

相关产品

Approval
生物活性分子 (1)
目录号 产品名 作用方式
纯度 是否罕见病
HY-B1465 1-Hexadecanol 99.76% 否
Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-153910 AGPS-IN-1 99.74% 否
HY-RS00461 AGPS Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus AGPS VGNC VGNC:59689
Bos taurus AGPS VGNC VGNC:25739
Mus musculus AGPS MGD MGI:2443065
Canis familiaris AGPS VGNC VGNC:37714
Macaca mulatta AGPS VGNC VGNC:69747
Rattus norvegicus AGPS RGD RGD:620364
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