PERP - p53 apoptosis effector related to PMP22 Gene

中文名称：与 PMP22 相关的 p53 凋亡效应子

种属: Homo sapiens

同用名: THW; KCP1; EKVP7; OLMS2; PIGPC1; KRTCAP1; dJ496H19.1

基因 ID: 64065 | 基因类型: protein coding

关于 PERP

Cytogenetic location: 6q23.3 Genomic coordinates (GRCh38): 6:138,088,505-138,107,419 (from NCBI)

This gene has 1 transcript (splice variant), 235 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in skin (RPKM 558.0), esophagus (RPKM 335.7) and 6 other tissues.

功能概要

参与半胱氨酸型内肽酶活性的激活。预测位于质膜中。预测在细胞-细胞连接中有活性。涉及变异性红斑角化病和伴有口周角化斑块的毁伤性掌跖角化病。 [由基因组资源联盟提供，2022 年 4 月]

Involved in activation of cysteine-type endopeptidase activity. Predicted to be located in plasma membrane. Predicted to be active in cell-cell junction. Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. [provided by Alliance of Genome Resources, Apr 2022]

PERP 基因产物(1)

mRNA	Protein	Name
NM_022121.5	NP_071404.2	p53 apoptosis effector related to PMP-22

基因本体论

分子功能
生物过程

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	25486861	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in activation of cysteine-type endopeptidase activity	IDA IDA: 通过直接分析推断	18387192	GOA
involved in positive regulation of neutrophil chemotaxis	IMP IMP: 通过突变表型推断	25486861	GOA
involved in positive regulation of proteolysis	IDA IDA: 通过直接分析推断	18387192	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

PERP 蛋白结构

PMP22_Claudin

0
100
193 a.a.

蛋白主名

其他名称

p53 apoptosis effector related to PMP-22

1110017A08Rik

PERP 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	PERP	Q96FX8	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Intra	PERP	Q96FX8	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	PERP	Q96FX8	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	PERP	Q96FX8	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	PERP	Q96FX8	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	PERP	Q96FX8	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	PERP	Q96FX8	ABHD16A	Homo sapiens	O95870	Y2H Array	32296183
Intra	PERP	Q96FX8	ABHD16A	Homo sapiens	O95870	Y2H Prey Pooling	32296183
Intra	PERP	Q96FX8	HSPB1	Homo sapiens	P04792	Validated Y2H	32814053
Intra	PERP	Q96FX8	HSPB1	Homo sapiens	P04792	Y2H Array	32814053
Intra	PERP	Q96FX8	HSPB1	Homo sapiens	P04792	Y2H Pooling	32814053
Intra	PERP	Q96FX8	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	PERP	Q96FX8	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	PERP	Q96FX8	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	PERP	Q96FX8	GFAP	Homo sapiens	P14136	Validated Y2H	32814053
Intra	PERP	Q96FX8	GFAP	Homo sapiens	P14136	Y2H Array	32814053
Intra	PERP	Q96FX8	GFAP	Homo sapiens	P14136	Y2H Pooling	32814053

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

Erythrokeratodermia Variabilis Et Progressiva 7

EKVP7

Olmsted Syndrome 2

OLMS2	Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques 2
Ppkm2

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome	Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques
Palmoplantar And Periorificial Keratoderma	Olms

Alopecia

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Hay-Wells Syndrome	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Aec Syndrome	AEC
Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome	Seres-Santamaria Arimany Muniz Syndrome
Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects	Ankyloblepharon Ectodermal Defects Cleft Lip/Palate
Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate	Rapp-Hodgkin Syndrome

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

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-RS10335	PERP Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	PERP	MGD	MGI:1929938
Canis familiaris	PERP	VGNC	VGNC:44424
Macaca mulatta	PERP	VGNC	VGNC:75818
Felis catus	PERP	VGNC	VGNC:64113
Rattus norvegicus	PERP	RGD	RGD:1310294
Others	PERP	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PERP - p53 apoptosis effector related to PMP22 Gene

关于 PERP

功能概要

PERP 基因产物(1)

PERP 蛋白结构

PERP 蛋白互作信息

关联疾病

直系同源

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PERP - p53 apoptosis effector related to PMP22 Gene

关于 PERP

功能概要

PERP 基因产物(1)

PERP 蛋白结构

PERP 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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C

F

G

H

J

L

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Q

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