1. Gene
  2. ACOX3 - acyl-CoA oxidase 3, pristanoyl Gene

ACOX3 - acyl-CoA oxidase 3, pristanoyl Gene

中文名称:酰基辅酶 A 氧化酶 3,海葵酰

种属: Homo sapiens

基因 ID: 8310 | 基因类型: protein coding

关于 ACOX3

Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:8,355,305-8,440,723 (from NCBI)

This gene has 8 transcripts (splice variants), 189 orthologues and 14 paralogues. Ubiquitous expression in esophagus (RPKM 3.5), skin (RPKM 3.1) and 25 other tissues.

功能概要

酰基辅酶 A 氧化酶 3 也称为海葵酰辅酶 A 氧化酶 (ACOX3) ,参与过氧化物酶体中 2-甲基支链脂肪酸的去饱和作用。与大鼠同系物不同,人类基因在肝脏中的表达量非常低,以至于其 mRNA 无法通过常规 Northern 印迹分析或其产物通过免疫印迹或通过酶活性测量检测不到。然而,编码具有过氧化物酶体靶向 C 末端三肽 SKL 的 700 个氨基酸蛋白质的人类 cDNA 被分离出来,并且被认为是在特殊条件下表达的,例如特定发育阶段或以组织特异性方式在尚未检查的组织中表达。[RefSeq 提供,2008 年 7 月]

Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]

ACOX3 基因产物(10)

mRNA Protein Name
NM_001101667.2 NP_001095137.1 peroxisomal acyl-coenzyme A oxidase 3 isoform b
NM_001375783.1 NP_001362712.1 peroxisomal acyl-coenzyme A oxidase 3 isoform a
NM_001375784.1 NP_001362713.1 peroxisomal acyl-coenzyme A oxidase 3 isoform c
NM_001375785.1 NP_001362714.1 peroxisomal acyl-coenzyme A oxidase 3 isoform d
NM_001375786.1 NP_001362715.1 peroxisomal acyl-coenzyme A oxidase 3 isoform d
NM_001375787.1 NP_001362716.1 peroxisomal acyl-coenzyme A oxidase 3 isoform e
NM_001375788.1 NP_001362717.1 peroxisomal acyl-coenzyme A oxidase 3 isoform b
NM_001375789.1 NP_001362718.1 peroxisomal acyl-coenzyme A oxidase 3 isoform f
NM_001375790.1 NP_001362719.1 peroxisomal acyl-coenzyme A oxidase 3 isoform g
NM_003501.3 NP_003492.2 peroxisomal acyl-coenzyme A oxidase 3 isoform a
基因本体论
  • 细胞组分
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
8993592 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

ACOX3 蛋白结构

Acyl-CoA_dh_M

Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (155 - 213)

Acyl-CoA_dh_1

Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (301 - 460)

ACOX

ACOX: Acyl-CoA oxidase (507 - 692)

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

peroxisomal acyl-coenzyme A oxidase 3

BRCACox

关联疾病

疾病名称 别名
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Peroxisomal Acyl-Coa Oxidase Deficiency

Pseudoneonatal Adrenoleukodystrophy

Straight-Chain Acyl-Coa Oxidase Deficiency

Pseudoadrenoleukodystrophy

PSEUDO-NALD

Pseudo-Neonatal Adrenoleukodystrophy

Acyl-Coa Oxidase Deficiency

Peroxisomal Acyl-Coenzyme A Oxidase

Acyl-Coenzyme A Oxidase Deficiency

Adrenoleukodystrophy, Pseudoneonatal

Deficiency, Peroxisomal Acyl-Coa Oxidase

Alpha-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

AMACRD

D-Bifunctional Protein Deficiency

Bifunctional Peroxisomal Enzyme Deficiency

17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency

Dbp Deficiency

Peroxisomal Bifunctional Enzyme Deficiency

Pbfe Deficiency

Bifunctional Enzyme Deficiency

Pseudo-Zellweger Syndrome

Zellweger-Like Syndrome

DBPD

Protein Deficiency, D-Bifunctional

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

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

直系同源

种属 基因名 来源 基因 ID
Felis catus ACOX3 VGNC VGNC:59524
Rattus norvegicus ACOX3 RGD RGD:69245
Bos taurus ACOX3 VGNC VGNC:25554
Mus musculus ACOX3 MGD MGI:1933156
Canis familiaris ACOX3 VGNC VGNC:37523
Macaca mulatta ACOX3 VGNC VGNC:69382