PEX3 - peroxisomal biogenesis factor 3 Gene

中文名称：过氧化物酶体生物发生因子 3

种属: Homo sapiens

同用名: TRG18; PBD10A; PBD10B

基因 ID: 8504 | 基因类型: protein coding

关于 PEX3

Cytogenetic location: 6q24.2 Genomic coordinates (GRCh38): 6:143,450,805-143,490,616 (from NCBI)

This gene has 3 transcripts (splice variants), 118 orthologues and is associated with 8 phenotypes. Ubiquitous expression in adrenal (RPKM 15.6), thyroid (RPKM 9.4) and 25 other tissues.

功能概要

该基因的产物参与过氧化物酶体的生物合成和完整性。它在基质蛋白易位之前组装膜囊泡。过氧化物酶 (PEX) 是组装功能性过氧化物酶体所必需的蛋白质。过氧化物酶体生物发生障碍 (PBD) 是一组以过氧化物酶体功能的多重缺陷为特征的遗传异质常染色体隐性致死性疾病。过氧化物酶体生物发生障碍是一个异质组，至少有 14 个互补组，并且在属于特定互补组的病例中观察到超过 1 种表型。尽管 PBD 患者的临床特征各不相同，但所有 PBD 患者的细胞都表现出将一种或多种过氧化物酶体基质蛋白导入细胞器的缺陷。该基因的缺陷是导致齐薇格综合征 (ZWS) 的原因。[RefSeq 提供，2008 年 10 月]

The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

PEX3 基因产物(1)

mRNA	Protein	Name
NM_003630.3	NP_003621.1	peroxisomal biogenesis factor 3

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 lipid binding	IDA IDA: 通过直接分析推断	19715730	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10704444	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in peroxisome organization	IMP IMP: 通过突变表型推断	10958759	GOA
involved in protein import into peroxisome membrane	IMP IMP: 通过突变表型推断	15007061	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	19479899	GOA
located in peroxisomal membrane	IDA IDA: 通过直接分析推断	9657383	GOA
located in peroxisome	IDA IDA: 通过直接分析推断	9922452	GOA
located in peroxisome	IMP IMP: 通过突变表型推断	12924628	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	18174172	GOA
part of protein-lipid complex	IDA IDA: 通过直接分析推断	19715730	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

PEX3 蛋白结构

Peroxin-3

0
100
200
300
373 a.a.

蛋白主名

其他名称

peroxisomal biogenesis factor 3

peroxin-3

PEX3 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	PEX3	P56589	PEX16	Homo sapiens	Q9Y5Y5	BRET	38225382
Intra	PEX3	P56589	PEX16	Homo sapiens	Q9Y5Y5	Validated Y2H	32296183
Intra	PEX3	P56589	PEX16	Homo sapiens	Q9Y5Y5	Anti Tag CoIP	16280322

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

Peroxisome Biogenesis Disorder 10b

PBD10B

Peroxisome Biogenesis Disorder 10a

PBD10A	Peroxisome Biogenesis Disorder Complementation Group 12
PBD-CG12	Cg12
Pbd-Cgg	Peroxisome Biogenesis Disorder Complementation Group G
Peroxisome Biogenesis Disorder, Type 10a	Peroxisome Biogenesis Disorder, Complementation Group 12

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 1a

PBD1A	Zs
Zws	Cerebrohepatorenal Syndrome
Chr	Zellweger Syndrome
Cerebro-Hepato-Renal Syndrome	Chr Syndrome
Zellweger'S Syndrome	Peroxisome Biogenesis Disorder Complementation Group 1
PBD-CG1	Cg1
Pbd-Cge	Peroxisome Biogenesis Disorder Complementation Group E
Peroxisome Biogenesis Disorder, Complementation Group 1	Cerebrohepatorenal Syndrome, Variant Types
Peroxisome Biogenesis Disorder Type 1a	Peroxisome Biogenesis Disorder, Type 1a

Neonatal Adrenoleukodystrophy

Nald	Adrenoleukodystrophy Autosomal Neonatal Form
Intermediate Pbd-Zsd	Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Adrenoleukodystrophy, Autosomal, Neonatal Form	Adrenoleukodystrophy Neonatal
Adrenoleukodystrophy, Neonatal

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

Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic	Rcdp
Chondrodysplasia Punctata, Rhizomelic Form	Rcp
Chondrodysplasia Punctata Rhizomelic

Acatalasemia

Acatalasia	Catalase Deficiency
Deficiency Of Catalase	ACATLAS
Takahara'S Disease	Takahara Disease

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder	Neurogenic Urinary Bladder Disorder
Neuropathic Bladder	Bladder Neurogenic
Urinary Bladder, Neurogenic	Neurogenic Urinary Bladder

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

Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy	ALD
Siemerling-Creutzfeldt Disease	X-Ald
X-Linked Cerebral Adrenoleukodystrophy	Bronze Schilder Disease
Melanodermic Leukodystrophy	Addison Disease And Cerebral Sclerosis
Adrenomyeloneuropathy, Adult	Diffuse Sclerosis
X-Cald	Adrenomyeloneuropathy
Encephalitis Periaxialis Concentrica	Encephalitis Periaxialis, Schilder'S
Sudanophilic Cerebral Sclerosis	Ald Childhood Cerebral Form
Adrenoleukodystrophy X-Linked Cerebral Form	Adrenoleukodystrophy Childhood Cerebral Form
Childhood Cerebral Ald	Schilder Disease
X-Linked Ald	Adrenoleukodystrophy, X-Linked
Amn	Diffuse Cerebral Sclerosis Of Schilder
Systemic Scleroderma	Balo'S Concentric Sclerosis
Ald - [Adrenoleukodystrophy]	Addison-Schilder

Spastic Paraparesis

Neonatal Jaundice

Neonatal Hyperbilirubinemia	Neonatal Icterus
Jaundice Neonatal	Jaundice, Neonatal
Hyperbilirubinemia, Neonatal

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

Non-Gestational Choriocarcinoma

Choriocarcinoma, Non-Gestational

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

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

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-RS10350	PEX3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	PEX3	RGD	RGD:621636
Bos taurus	PEX3	VGNC	VGNC:32760
Canis familiaris	PEX3	VGNC	VGNC:44434
Mus musculus	PEX3	MGD	MGI:1929646
Felis catus	PEX3	VGNC	VGNC:68796
Macaca mulatta	PEX3	VGNC	VGNC:75951

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