PEX14 - peroxisomal biogenesis factor 14 Gene

中文名称：过氧化物酶体生物发生因子 14

种属: Homo sapiens

同用名: NAPP2; PBD13A; Pex14p; dJ734G22.2

基因 ID: 5195 | 基因类型: protein coding

关于 PEX14

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:10,474,950-10,630,758 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and is associated with 6 phenotypes. Ubiquitous expression in prostate (RPKM 3.2), urinary bladder (RPKM 3.0) and 25 other tissues.

功能概要

该基因编码过氧化物酶体输入机制的重要组成部分。该蛋白质被整合到过氧化物酶体膜中，其 C 末端暴露于胞质溶胶，并与含有 PTS1 过氧化物酶体靶向信号的蛋白质的胞质受体相互作用。该蛋白质还充当转录辅阻遏物，并与组蛋白脱乙酰酶相互作用。该基因的突变会导致一种形式的齐薇格综合症。[RefSeq 提供，2008 年 7 月]

This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]

PEX14 基因产物(1)

mRNA	Protein	Name
NM_004565.3	NP_004556.1	peroxisomal membrane protein PEX14

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 beta-tubulin binding	IPI IPI: 通过物理相互作用推断	21525035	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	12488033	GOA
enables microtubule binding	IDA IDA: 通过直接分析推断	21525035	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9653144	GOA
enables protein transmembrane transporter activity	IDA IDA: 通过直接分析推断	28765278	GOA
enables protein-macromolecule adaptor activity	IDA IDA: 通过直接分析推断	11438541	GOA
enables signaling receptor binding	IPI IPI: 通过物理相互作用推断	10022913	GOA
enables transcription corepressor activity	IDA IDA: 通过直接分析推断	11863372	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 microtubule anchoring	IDA IDA: 通过直接分析推断	21525035	GOA
involved in negative regulation of DNA-binding transcription factor activity	IDA IDA: 通过直接分析推断	11863372	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	11863372	GOA
involved in negative regulation of protein binding	IDA IDA: 通过直接分析推断	21976670	GOA
NOT involved in peroxisome organization	IGI IGI: 通过遗传相互作用推断	10022913	GOA
involved in peroxisome transport along microtubule	IDA IDA: 通过直接分析推断	21525035	GOA
involved in protein import into peroxisome matrix	IMP IMP: 通过突变表型推断	15146459	GOA
involved in protein import into peroxisome matrix, docking	IDA IDA: 通过直接分析推断	11438541	GOA
involved in protein import into peroxisome matrix, substrate release	IDA IDA: 通过直接分析推断	21976670	GOA
involved in protein import into peroxisome matrix, translocation	IDA IDA: 通过直接分析推断	21525035	GOA
involved in protein-containing complex assembly	IDA IDA: 通过直接分析推断	21525035	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	10022913	GOA
located in peroxisome	IDA IDA: 通过直接分析推断	16449325	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

PEX14 蛋白结构

Pex14_N

0
100
200
300
377 a.a.

蛋白主名

其他名称

peroxisomal membrane protein PEX14

NF-E2 associated polypeptide 2

PEX14 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	PEX14	O75381	MARF1	Homo sapiens	Q9Y4F3	Validated Y2H	32296183
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	Pull Down	21525035
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	BRET	29997244
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	SLC	31467278
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	GMS	21525035
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	MAPPIT	31467278
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	BRET	37398436
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	Peptide Array	19197237
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	Beta Lactamase	12096124
Intra	PEX14	O75381	PEX5	Homo sapiens	P50542	Peptide Array	19197237
Intra	PEX14	O75381	PEX5	Homo sapiens	P50542	GMS	21525035
Intra	PEX14	O75381	PEX5	Homo sapiens	P50542	ITC	19197237
Intra	PEX14	O75381	PEX5	Homo sapiens	P50542	Pull Down	21525035
Intra	PEX14	O75381	PEX5	Homo sapiens	P50542	Ub Reconstruction	12096124
Intra	PEX14	O75381	CENPK	Homo sapiens	Q9BS16	Validated Y2H	32296183
Intra	PEX14	O75381	CENPK	Homo sapiens	Q9BS16	Y2H Array	32296183
Intra	PEX14	O75381	COPS4	Homo sapiens	Q9BT78	Validated Y2H	32296183
Intra	PEX14	O75381	COPS4	Homo sapiens	Q9BT78	Y2H Array	32296183
Intra	PEX14	O75381	COPS4	Homo sapiens	Q9BT78	Y2H Prey Pooling	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 13a

PBD13A	Peroxisome Biogenesis Disorder Complementation Group K
PBD-CGK	Peroxisome Biogenesis Disorder, Complementation Group K
Peroxisome Biogenesis Disorder, Type 13a

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

Rhizomelic Chondrodysplasia Punctata

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

Rhizomelic Chondrodysplasia Punctata, Type 5

Rhizomelic Chondrodysplasia Punctata Type 5	RCDP5
Rhizomelic Chondrodysplasia Punctata 5	Chondrodysplasia Punctata, Rhizomelic, Type 5

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

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

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-155530	PEX5-PEX14 PPI-IN-1		/	否
HY-155531	PEX5-PEX14 PPI-IN-2		/	否
HY-RS10345	PEX14 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	PEX14	VGNC	VGNC:97802
Rattus norvegicus	PEX14	RGD	RGD:68336
Felis catus	PEX14	VGNC	VGNC:80301
Bos taurus	PEX14	VGNC	VGNC:32756
Canis familiaris	PEX14	VGNC	VGNC:82292
Mus musculus	PEX14	MGD	MGI:1927868

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