2. Gene
  3. PEX5 - peroxisomal biogenesis factor 5 Gene

PEX5 - peroxisomal biogenesis factor 5 Gene

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

中文名称：过氧化物酶体生物发生因子 5

种属: Homo sapiens

同用名: PXR1; PBD2A; PBD2B; PTS1R; RCDP5; PTS1-BP

基因 ID: 5830 | 基因类型: protein coding

关于 PEX5

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:7,188,653-7,218,574 (from NCBI)

This gene has 21 transcripts (splice variants), 1 gene allele, 215 orthologues, 1 paralogue and is associated with 9 phenotypes. Ubiquitous expression in testis (RPKM 16.9), brain (RPKM 10.8) and 25 other tissues.

功能概要

该基因的产物与 C 末端 PTS1 型三肽过氧化物酶体靶向信号 (SKL 型) 结合，并在过氧化物酶体蛋白导入中发挥重要作用。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。该基因的缺陷是新生儿肾上腺脑白质营养不良 (NALD) 的原因，是 Zellweger 综合征 (ZWS) 的原因，也可能是婴儿 Refsum 病 (IRD) 的原因。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 10 月]

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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 of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

PEX5 基因产物(26)

mRNA Protein Name
NM_000319.5 NP_000310.2 peroxisomal biogenesis factor 5 isoform b
NM_001131023.2 NP_001124495.1 peroxisomal biogenesis factor 5 isoform a
NM_001131024.2 NP_001124496.1 peroxisomal biogenesis factor 5 isoform c
NM_001131025.2 NP_001124497.1 peroxisomal biogenesis factor 5 isoform d
NM_001131026.2 NP_001124498.1 peroxisomal biogenesis factor 5 isoform d
NM_001300789.3 NP_001287718.2 peroxisomal biogenesis factor 5 isoform d
NM_001351124.3 NP_001338053.1 peroxisomal biogenesis factor 5 isoform c
NM_001351126.2 NP_001338055.1 peroxisomal biogenesis factor 5 isoform c
NM_001351127.2 NP_001338056.1 peroxisomal biogenesis factor 5 isoform c
NM_001351128.2 NP_001338057.1 peroxisomal biogenesis factor 5 isoform c
NM_001351130.3 NP_001338059.1 peroxisomal biogenesis factor 5 isoform c
NM_001351131.2 NP_001338060.1 peroxisomal biogenesis factor 5 isoform d
NM_001351132.2 NP_001338061.1 peroxisomal biogenesis factor 5 isoform d
NM_001351133.2 NP_001338062.1 peroxisomal biogenesis factor 5 isoform d
NM_001351134.2 NP_001338063.1 peroxisomal biogenesis factor 5 isoform d
NM_001351135.3 NP_001338064.2 peroxisomal biogenesis factor 5 isoform i
NM_001351136.2 NP_001338065.1 peroxisomal biogenesis factor 5 isoform g
NM_001351137.3 NP_001338066.2 peroxisomal biogenesis factor 5 isoform c
NM_001351138.2 NP_001338067.1 peroxisomal biogenesis factor 5 isoform i
NM_001351139.2 NP_001338068.1 peroxisomal biogenesis factor 5 isoform j
NM_001351140.2 NP_001338069.1 peroxisomal biogenesis factor 5 isoform j
NM_001374645.1 NP_001361574.1 peroxisomal biogenesis factor 5 isoform c
NM_001374646.1 NP_001361575.1 peroxisomal biogenesis factor 5 isoform c
NM_001374647.2 NP_001361576.1 peroxisomal biogenesis factor 5 isoform d
NM_001374648.2 NP_001361577.1 peroxisomal biogenesis factor 5 isoform c
NM_001374649.2 NP_001361578.1 peroxisomal biogenesis factor 5 isoform j
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 enzyme binding IPI
IPI: 通过物理相互作用推断
11060344 GOA
enables peroxisome matrix targeting signal-1 binding IDA
IDA: 通过直接分析推断
7719337 GOA
enables peroxisome matrix targeting signal-1 binding IMP
IMP: 通过突变表型推断
9668159 GOA
enables peroxisome matrix targeting signal-1 binding IPI
IPI: 通过物理相互作用推断
21375735 GOA
enables peroxisome membrane targeting sequence binding IPI
IPI: 通过物理相互作用推断
21976670 GOA
enables peroxisome targeting sequence binding IDA
IDA: 通过直接分析推断
18346465 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8858165 GOA
enables protein carrier chaperone IDA
IDA: 通过直接分析推断
11546814 GOA
enables protein carrier chaperone IMP
IMP: 通过突变表型推断
33389129 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
18346465 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to reactive oxygen species IDA
IDA: 通过直接分析推断
26344566 GOA
involved in negative regulation of protein-containing complex assembly IDA
IDA: 通过直接分析推断
21976670 GOA
involved in pexophagy IDA
IDA: 通过直接分析推断
26344566 GOA
involved in protein import into peroxisome matrix IDA
IDA: 通过直接分析推断
11546814 GOA
involved in protein import into peroxisome matrix IGI
IGI: 通过遗传相互作用推断
11931631 GOA
involved in protein import into peroxisome matrix IMP
IMP: 通过突变表型推断
11463335 GOA
involved in protein import into peroxisome matrix, docking IDA
IDA: 通过直接分析推断
21976670 GOA
involved in protein import into peroxisome matrix, receptor recycling IDA
IDA: 通过直接分析推断
11336669 GOA
involved in protein import into peroxisome matrix, substrate release IDA
IDA: 通过直接分析推断
26344566 GOA
involved in protein import into peroxisome matrix, translocation IDA
IDA: 通过直接分析推断
7719337 GOA
involved in protein import into peroxisome membrane IMP
IMP: 通过突变表型推断
14709540 GOA
involved in protein targeting to peroxisome IDA
IDA: 通过直接分析推断
21375735 GOA
involved in protein targeting to peroxisome IMP
IMP: 通过突变表型推断
9668159 GOA
involved in protein tetramerization IDA
IDA: 通过直接分析推断
12456682 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10514471 GOA
is active in cytosol IDA
IDA: 通过直接分析推断
16314507 GOA
located in cytosol IDA
IDA: 通过直接分析推断
7719337 GOA
located in membrane IDA
IDA: 通过直接分析推断
10514471 GOA
is active in peroxisomal matrix IDA
IDA: 通过直接分析推断
11546814 GOA
located in peroxisomal matrix IDA
IDA: 通过直接分析推断
11336669 GOA
is active in peroxisomal matrix IMP
IMP: 通过突变表型推断
33389129 GOA
located in peroxisome IDA
IDA: 通过直接分析推断
7719337 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
19584060 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

PEX5 蛋白结构

TPR_11

TPR_11: TPR repeat (339 - 400)

TPR_11

TPR_11: TPR repeat (494 - 553)

TPR_1

TPR_1: Tetratricopeptide repeat (558 - 585)

  • 0
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  • 500
  • 600
  • 639 a.a.
蛋白主名 其他名称

peroxisomal biogenesis factor 5

PTS1 receptor

PEX5 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
种属内
PEX5 P50542 a8k3q9_human Homo sapiens A8K3Q9
Y2H Prey Pooling
25416956
种属内
PEX5 P50542 a8k3q9_human Homo sapiens A8K3Q9
Y2H Array
25416956
种属内
PEX5 P50542 MKRN3 Homo sapiens Q6NSB6
Y2H Array
25416956
种属内
PEX5 P50542 ZNF772 Homo sapiens Q68DY9
Y2H Array
25416956
种属内
PEX5 P50542 ZNF772 Homo sapiens Q68DY9
Y2H Prey Pooling
25416956
种属内
PEX5 P50542 TOM7 Homo sapiens Q75MR5
Validated Y2H
25416956
种属内
PEX5 P50542 TOM7 Homo sapiens Q75MR5
Y2H Array
25416956
种属内
PEX5 P50542 TOM7 Homo sapiens Q75MR5
Y2H Prey Pooling
25416956
种属内
PEX5 P50542 TM6SF1 Homo sapiens Q8N5N8
Validated Y2H
25416956
种属内
PEX5 P50542 ACOT8 Homo sapiens O14734
Y2H Prey Pooling
25416956
种属内
PEX5 P50542 ACOT8 Homo sapiens O14734
Validated Y2H
25416956
种属内
PEX5 P50542 ACOT8 Homo sapiens O14734
Y2H Array
25416956
种属内
PEX5 P50542 GDPD5 Homo sapiens Q8WTR4
Y2H Prey Pooling
25416956
种属内
PEX5 P50542 S100A6 Homo sapiens P06703
Validated Y2H
25416956
种属内
PEX5 P50542 LDHB Homo sapiens P07195
Y2H Prey Pooling
25416956
种属内
PEX5 P50542 PEX12 Homo sapiens O00623
Anti Tag CoIP
10562279
种属内
PEX5 P50542 PEX14 Homo sapiens O75381
NMR
19197237
种属内
PEX5 P50542 PEX14 Homo sapiens O75381
Y2H
12096124
种属内
PEX5 P50542 PEX14 Homo sapiens O75381
IF
19197237
种属内
PEX5 P50542 CAPRIN2 Homo sapiens Q6IMN6
Y2H Array
25416956
种属内
PEX5 P50542 CAPRIN2 Homo sapiens Q6IMN6
Y2H Prey Pooling
25416956
种属内
PEX5 P50542 CAPRIN2 Homo sapiens Q6IMN6
Validated Y2H
25416956
种属内
PEX5 P50542 TINF2 Homo sapiens Q9BSI4
Pull Down
21044950
种属内
PEX5 P50542 PRR13 Homo sapiens Q9NZ81
Y2H Prey Pooling
25416956
种属内
PEX5 P50542 PRR13 Homo sapiens Q9NZ81
Y2H Array
25416956
种属内
PEX5 P50542 CCDC14 Homo sapiens Q49A88
Y2H Array
25416956
种属内
PEX5 P50542 RPL14 Homo sapiens Q6IPH7
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 5

Rhizomelic Chondrodysplasia Punctata Type 5

RCDP5

Rhizomelic Chondrodysplasia Punctata 5

Chondrodysplasia Punctata, Rhizomelic, Type 5
Peroxisome Biogenesis Disorder 2b

PBD2B

Peroxisome Biogenesis Disorder, Type 2b
Peroxisome Biogenesis Disorder 2a

PBD2A

Peroxisome Biogenesis Disorder Complementation Group 2

PBD-CG2

Cg1

Pbd-Cge

Peroxisome Biogenesis Disorder Complementation Group E

Peroxisome Biogenesis Disorder, Type 2a
Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic

Rcdp

Chondrodysplasia Punctata, Rhizomelic Form

Rcp

Chondrodysplasia Punctata Rhizomelic
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
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
Peroxisomal Disease

Peroxisomal Disorder

Peroxisomal Disorders

Peroxisomal Defects
Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey
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
Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I
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
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
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
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
Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Leukodystrophy

Leukodystrophies
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

Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-155530 PEX5-PEX14 PPI-IN-1 / 否
HY-155531 PEX5-PEX14 PPI-IN-2 / 否
HY-RS10351 PEX5 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS10352 PEX5L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PEX5 VGNC VGNC:76016
Bos taurus PEX5 VGNC VGNC:32761
Canis familiaris PEX5 VGNC VGNC:44435
Rattus norvegicus PEX5 RGD RGD:1307612
Felis catus PEX5 VGNC VGNC:69190
Mus musculus PEX5 MGD MGI:1098808
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