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  2. PKP4 - plakophilin 4 Gene

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

Arm: Armadillo/beta-catenin-like repeat (560 - 598)

Arm

Arm: Armadillo/beta-catenin-like repeat (603 - 644)

Arm

Arm: Armadillo/beta-catenin-like repeat (865 - 900)

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

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