PKP3 - plakophilin 3 Gene

中文名称：plakophilin 3

种属: Homo sapiens

基因 ID: 11187 | 基因类型: protein coding

关于 PKP3

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:392,596-404,908 (from NCBI)

This gene has 11 transcripts (splice variants), 265 orthologues and 6 paralogues. Biased expression in skin (RPKM 51.4), esophagus (RPKM 46.7) and 11 other tissues.

功能概要

该基因编码臂重复 (犰狳) 和 plakophilin 基因家族的成员。 Plakophilin 蛋白包含大量犰狳重复序列，定位于细胞桥粒和细胞核，并参与将钙粘蛋白连接到细胞骨架中的中间丝。这种蛋白质可能在细胞桥粒依赖性粘附和信号通路中发挥作用。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2014 年 12 月]

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking Cadherins to intermediate filaments in the Cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

PKP3 基因产物(2)

mRNA	Protein	Name
NM_001303029.2	NP_001289958.1	plakophilin-3 isoform PKP3b
NM_007183.4	NP_009114.1	plakophilin-3 isoform PKP3a

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 alpha-catenin binding	IPI IPI: 通过物理相互作用推断	23136403	GOA
enables cell adhesion molecule binding	IPI IPI: 通过物理相互作用推断	20859650	GOA
enables enzyme binding	IPI IPI: 通过物理相互作用推断	25225333	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	24124604	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in desmosome assembly	IMP IMP: 通过突变表型推断	20859650	GOA
involved in negative regulation of mRNA catabolic process	IMP IMP: 通过突变表型推断	25225333	GOA
involved in positive regulation of cell adhesion	IMP IMP: 通过突变表型推断	24124604	GOA
involved in positive regulation of cell-cell adhesion	IMP IMP: 通过突变表型推断	29678907	GOA
involved in protein localization to plasma membrane	IMP IMP: 通过突变表型推断	20859650	GOA
NOT involved in regulation of translation	IMP IMP: 通过突变表型推断	25225333	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	24124604	GOA
located in desmosome	IDA IDA: 通过直接分析推断	20613778	GOA
located in nucleus	IDA IDA: 通过直接分析推断	24124604	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	25501895	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

PKP3 蛋白结构

Arm

0
200
400
600
797 a.a.

蛋白主名

其他名称

plakophilin-3

plakophilin 3b

PKP3 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	PKP3	Q9Y446	GFAP	Homo sapiens	P14136	Validated Y2H	32814053
种属内	PKP3	Q9Y446	GFAP	Homo sapiens	P14136	Y2H Pooling	32814053
种属内	PKP3	Q9Y446	GFAP	Homo sapiens	P14136	Y2H Array	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

Viral Gastritis

Pemphigus

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia	Arvc
Arvd	Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Arvc Cardiomyopathy	Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
Arvd/C	Right Ventricular Dysplasia, Arrhythmogenic
Ventricular Dysplasia, Right, Arrhythmogenic	Cardiomyopathy, Ventricular, Right, Arrhythmogenic
Dysplasia, Arrhythmogenic Right Ventricular

Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Arrhythmogenic Right Ventricular Dysplasia 13	ARVD13
Arrhythmogenic Right Ventricular Cardiomyopathy 13	Arvc13
Familial Arrhythmogenic Right Ventricular Dysplasia 13	Dysplasia, Ventricular, Right, Arrhythmogenic, Familial, Type 13

Gastric Tubular Adenocarcinoma

Tubular Adenocarcinoma Of Stomach

Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma

Carvajal Syndrome	Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair
DCWHK	Dilated Cardiomyopathy With Woolly Hair And Keratoderma
Cardiomyopathy Dilated With Woolly Hair And Keratoderma	Kwwh Type Ii
Keratoderma With Woolly Hair Type Ii	Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome
Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome	Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome
Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome	Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy
Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy	Cardiomyopathy, Dilated With Woolly Hair And Keratoderma

Naxos Disease

Mal De Naxos	NXD
Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities	Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair	Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy
Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy	Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities	Kwwh Type I
Keratoderma With Woolly Hair Type I	Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy
Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy

Familial Woolly Hair Syndrome

Wooly Hair	Familial Wooly Hair Syndrome
Hereditary Woolly Hair Syndrome	Hereditary Wooly Hair Syndrome
Woolly Hair	Syndrome With Woolly Hair
Wooly Hair Syndrome

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma	NEPPK
Tylosis	Unna-Thost Syndrome
Keratoderma, Palmoplantar, Diffuse	Ppkne
Keratoderma, Nonepidermolytic Palmoplantar	Diffuse Nonepidermolytic Palmomplantar Keratoderma
Thost-Unna Syndrome	Non-Epidermolytic Palmoplantar Keratoderma
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type	Diffuse Palmoplantar Keratoderma, Bothnian Type
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Krt1-Related Diffuse Neppk
Keratoderma, Palmoplantar, Non-Epidermolytic	Nonepidermolytic Unna-Thost Disease
Non-Epidermolytic Unna-Thost Disease	Keratoderma, Palmoplantar, Nonepidermolytic
Hyperkeratosis

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

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-RS10613	PKP3 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	PKP3	MGD	MGI:1891830
Canis familiaris	PKP3	VGNC	VGNC:44617
Bos taurus	PKP3	VGNC	VGNC:32951
Rattus norvegicus	PKP3	RGD	RGD:1309133
Felis catus	PKP3	VGNC	VGNC:68877
Macaca mulatta	PKP3	VGNC	VGNC:107460

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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）

PKP3 - plakophilin 3 Gene

关于 PKP3

功能概要

PKP3 基因产物(2)

PKP3 蛋白结构

PKP3 蛋白互作信息

关联疾病

直系同源

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PKP3 - plakophilin 3 Gene

关于 PKP3

功能概要

PKP3 基因产物(2)

PKP3 蛋白结构

PKP3 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z