PKP4 - plakophilin 4 Gene

中文名称：plakophilin 4

种属: Homo sapiens

同用名: p0071

基因 ID: 8502 | 基因类型: protein coding

关于 PKP4

Cytogenetic location: 2q24.1 Genomic coordinates (GRCh38): 2:158,456,952-158,681,429 (from NCBI)

This gene has 17 transcripts (splice variants), 211 orthologues and 6 paralogues. Ubiquitous expression in kidney (RPKM 22.9), thyroid (RPKM 17.0) and 25 other tissues.

功能概要

犰狳样蛋白的特征在于一系列犰狳重复序列，首先在果蝇“犰狳”基因产物中定义，其长度通常为 42 至 45 个氨基酸。这些蛋白质可以根据它们的重复次数、整体序列相似性以及重复序列在整个序列中的分布情况分为亚家族。犰狳样蛋白的 p120 (ctn) /plakophilin 亚家族成员，包括 CTNND1、CTNND2、PKP1、PKP2、PKP4 和 ARVCF。 PKP4 可能是桥粒斑块和其他粘附斑块的组成部分，并被认为参与调节连接斑块组织和钙粘蛋白功能。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 2 月]

Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 Amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and Other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

PKP4 基因产物(14)

mRNA	Protein	Name
NM_001005476.4	NP_001005476.1	plakophilin-4 isoform b
NM_001304969.3	NP_001291898.1	plakophilin-4 isoform c
NM_001304970.3	NP_001291899.1	plakophilin-4 isoform d
NM_001304971.2	NP_001291900.1	plakophilin-4 isoform e
NM_001377218.1	NP_001364147.1	plakophilin-4 isoform a
NM_001377219.1	NP_001364148.1	plakophilin-4 isoform c
NM_001377220.1	NP_001364149.1	plakophilin-4 isoform c
NM_001377221.1	NP_001364150.1	plakophilin-4 isoform c
NM_001377222.1	NP_001364151.1	plakophilin-4 isoform f
NM_001377223.1	NP_001364152.1	plakophilin-4 isoform f
NM_001377224.1	NP_001364153.1	plakophilin-4 isoform g
NM_001377225.1	NP_001364154.1	plakophilin-4 isoform b
NM_001377226.1	NP_001364155.1	plakophilin-4 isoform h
NM_003628.6	NP_003619.2	plakophilin-4 isoform a

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	12047349	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of GTPase activity	IDA IDA: 通过直接分析推断	17115030	GOA
involved in positive regulation of cytokinesis	IMP IMP: 通过突变表型推断	17115030	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
colocalizes with cell-cell contact zone	IDA IDA: 通过直接分析推断	22965878	GOA
located in cell-cell junction	IDA IDA: 通过直接分析推断	8937994	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	22965878	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: 通过直接分析推断	17115030	GOA
located in cytoskeleton	IDA IDA: 通过直接分析推断	8937994	GOA
located in desmosome	IDA IDA: 通过直接分析推断	8937994	GOA
colocalizes with midbody	IDA IDA: 通过直接分析推断	22965878	GOA
located in midbody	IDA IDA: 通过直接分析推断	17115030	GOA
located in mitotic spindle	IDA IDA: 通过直接分析推断	17115030	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	8937994	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	8937994	GOA
located in spindle midzone	IDA IDA: 通过直接分析推断	17115030	GOA
located in spindle pole	IDA IDA: 通过直接分析推断	17115030	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

PKP4 蛋白结构

Arm

0
200
400
600
800
1000
1192 a.a.

蛋白主名

其他名称

plakophilin-4

catenin 4

PKP4 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	PKP4	Q99569	ATPAF2	Homo sapiens	Q8N5M1	Y2H Array	31515488
种属内	PKP4	Q99569	ATPAF2	Homo sapiens	Q8N5M1	Validated Y2H	25416956
种属内	PKP4	Q99569	ATPAF2	Homo sapiens	Q8N5M1	Y2H Array	25416956
种属内	PKP4	Q99569	DLG1	Homo sapiens	Q12959	Phage Display	24550280
种属内	PKP4	Q99569	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	25416956
种属内	PKP4	Q99569	GOLGA2	Homo sapiens	Q08379	Y2H Array	25416956
种属内	PKP4	Q99569	GOLGA2	Homo sapiens	Q08379	Validated Y2H	25416956
种属内	PKP4	Q99569	TRIM23	Homo sapiens	P36406	Validated Y2H	25416956
种属内	PKP4	Q99569	TRIM23	Homo sapiens	P36406	Y2H Prey Pooling	25416956
种属内	PKP4	Q99569	LZTS2	Homo sapiens	Q9BRK4	Y2H Prey Pooling	25416956
种属内	PKP4	Q99569	ERBIN	Homo sapiens	Q96RT1-2	Y2H	12047349
种属内	PKP4	Q99569	ERBIN	Homo sapiens	Q96RT1-2	Pull Down	12047349
种属内	PKP4	Q99569	ERBIN	Homo sapiens	Q96RT1	Anti Bait CoIP	12047349

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

Familial Renal Oncocytoma

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

Pneumothorax, Primary Spontaneous

Primary Spontaneous Pneumothorax	Spontaneous Pneumothorax
Familial Spontaneous Pneumothorax	PSP
Pneumothorax

Osgood-Schlatter'S Disease

Osgood-Schlatter Disease	Juvenile Osteochondrosis Of Tibial Tubercle
Osteochondrosis	Osteochondritis Of Tibial Tubercle
Osteochondrosis Of Proximal Tibia	Aseptic Necrosis Of The Tibial Tubercle
Osteochondrosis Of The Tibial Tubercle	Osteochondritis Juvenilis

Cri-Du-Chat Syndrome

5p Deletion Syndrome	5p Partial Monosomy Syndrome
Monosomy 5p	Cat Cry Syndrome
Chromosome 5p Deletion Syndrome	Cri Du Chat Syndrome
5p- Syndrome	5p Minus Syndrome
Chromosome 5p- Syndrome	Chromosome 5 Short Arm Deletion Syndrome
Chromosome 5p Deletion	Deletion 5p
Cri Du Chat	5p Partial Deletion Syndrome
Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Birt-Hogg-Dube Syndrome

Hornstein-Knickenberg Syndrome	Fibrofolliculomas With Trichodiscomas And Acrochordons
BHD	Birt-Hogg-Dubé Syndrome
Multiple Fibrofolliculoma Familial	Bhd Syndrome
Birt Hogg Dube Syndrome	Hornstein-Birt-Hogg-Dubé Syndrome
Multiple Fibrofolliculomas

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face Syndrome

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

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-RS10614	PKP4 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	PKP4	MGD	MGI:109281
Felis catus	PKP4	VGNC	VGNC:80304
Macaca mulatta	PKP4	VGNC	VGNC:76153
Canis familiaris	PKP4	VGNC	VGNC:44618
Bos taurus	PKP4	VGNC	VGNC:32952
Rattus norvegicus	PKP4	RGD	RGD:1307840

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