1. Gene
  2. PEX13 - peroxisomal biogenesis factor 13 Gene

PEX13 - peroxisomal biogenesis factor 13 Gene

中文名称:过氧化物酶体生物发生因子 13

种属: Homo sapiens

同用名: ZWS; NALD; PBD11A; PBD11B

基因 ID: 5194 | 基因类型: protein coding

关于 PEX13

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:61,017,720-61,051,990 (from NCBI)

This gene has 5 transcripts (splice variants), 193 orthologues and is associated with 7 phenotypes. Ubiquitous expression in thyroid (RPKM 8.0), liver (RPKM 7.8) and 25 other tissues.

功能概要

该基因编码一种过氧化物酶体膜蛋白,该蛋白通过位于细胞质中的 SH3 结构域结合 1 型过氧化物酶体靶向信号受体。过氧化物酶体蛋白输入和过氧化物酶体组装的突变和缺陷会导致过氧化物酶体生物发生障碍,例如 Zellweger 综合征。[RefSeq 提供,2008 年 10 月]

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

PEX13 基因产物(1)

mRNA Protein Name
NM_002618.4 NP_002609.1 peroxisome biogenesis factor 13
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 protein binding IPI
IPI: 通过物理相互作用推断
8858165 GOA
enables protein transmembrane transporter activity IDA
IDA: 通过直接分析推断
28765278 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 protein import into peroxisome matrix, docking IDA
IDA: 通过直接分析推断
28765278 GOA
involved in protein import into peroxisome matrix, docking IMP
IMP: 通过突变表型推断
8858165 GOA
involved in protein import into peroxisome matrix, translocation IDA
IDA: 通过直接分析推断
28765278 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in peroxisomal membrane IDA
IDA: 通过直接分析推断
19197237 GOA
located in peroxisomal membrane IDA
IDA: 通过直接分析推断
8858165 GOA
located in peroxisome IDA
IDA: 通过直接分析推断
11829486 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

PEX13 蛋白结构

Peroxin-13_N

Peroxin-13_N: Peroxin 13, N-terminal region (104 - 254)

SH3_9

SH3_9: Variant SH3 domain (279 - 332)

  • 0
  • 100
  • 200
  • 300
  • 403 a.a.
蛋白主名 其他名称

peroxisome biogenesis factor 13

peroxin-13

PEX13 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 PEX13 Q92968 PEX19 Homo sapiens P40855
FPS
20531392
Intra PEX13 Q92968 CEP19 Homo sapiens Q96LK0
Validated Y2H
32296183
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 11b

PBD11B

Peroxisome Biogenesis Disorder, Type 11b

Peroxisome Biogenesis Disorder 11a

PBD11A

Peroxisome Biogenesis Disorder Complementation Group 13

PBD-CG13

Cg13

Pbd-Cgh

Peroxisome Biogenesis Disorder Complementation Group H

Peroxisome Biogenesis Disorder, Type 11a

Peroxisome Biogenesis Disorder, Complementation Group 13

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

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Zellweger Spectrum Disorder

Zsd

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Zellweger Spectrum

Cerebrohepatorenal Syndrome

Pbd, Zss

Pbd-Zsd

Zellweger Syndrome Spectrum

Zellweger Syndrome

Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic

Rcdp

Chondrodysplasia Punctata, Rhizomelic Form

Rcp

Chondrodysplasia Punctata Rhizomelic

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

Peroxisomal Disease

Peroxisomal Disorder

Peroxisomal Disorders

Peroxisomal Defects

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

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome

Mcops7

Mls Syndrome

Microphthalmia, Syndromic 7

Microphthalmia With Linear Skin Defects Syndrome

Microphthalmia With Linear Skin Defects

Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome

Syndromic Microphthalmia Type 7

LSDMCA1

Mls

Microphthalmia, Dermal Aplasia, And Sclerocornea

Microphthalmia With Linear Skin Defect Syndrome

Syndromic Microphthalmia 7

Linear Skin Defects With Multiple Congenital Anomalies

Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome

Microphthalmia Dermal Aplasia And Sclerocornea Syndrome

Micropthalmia Syndromic 7

Microphthalmia Syndromic 7

Microphthalmia With Linear Skin Lesions Syndrome

Syndromic Microphthalmia-7

Microphthalmia, Dermal Aplasia And Sclerocornea

Microphthalmia, Syndromic, 7

Midas

Chromosome 2p16.1-P15 Deletion Syndrome

2p15p16.1 Microdeletion Syndrome

2p15-P16.1 Microdeletion Syndrome

Del(2)(P15p16.1)

Monosomy 2p15p16.1

Monosomy 2p15-P16.1

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

Albinism, Ocular, With Late-Onset Sensorineural Deafness

Ocular Albinism With Sensorineural Deafness

OASD

Deafness And Ocular Albinism

Ocular Albinism With Late-Onset Sensorineural Deafness

Albinism, Ocular, With Sensorineural Deafness

Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism

Digenic Waardenburg Syndrome/Albinism

Digenic Waardenburg Syndrome/Ocular Albinism

Ws2-Oa

Albinism Ocular Late Onset Sensorineural Deafness

Ocular Albinism With Late-Onset Sensorineural Hearing Loss

Waardenburg Syndrome/Ocular Albinism, Digenic

Waardenburg Syndrome/Albinism, Digenic

Ocular Albinism And Sensorineural Deafness

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

Cornelia De Lange Syndrome 1

De Lange Syndrome

CDLS1

Cdl

Cdls

Typus Degenerativus Amstelodamensis

Brachmann-De Lange Syndrome

Bdls

Amstelodamensis Typus Degenerativus

Cornelia De Lange Syndrome, Type 1

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PEX13 VGNC VGNC:75949
Bos taurus PEX13 VGNC VGNC:32755
Canis familiaris PEX13 VGNC VGNC:44430
Rattus norvegicus PEX13 RGD RGD:1310682
Mus musculus PEX13 MGD MGI:1919379