PKP4 - plakophilin 4 Gene

Also Known as p0071

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8502

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12047349	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	17115030	GOA
involved in positive regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	17115030	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with cell-cell contact zone	IDA IDA: Inferred from direct assay	22965878	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	8937994	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22965878	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	17115030	GOA
located in cytoskeleton	IDA IDA: Inferred from direct assay	8937994	GOA
located in desmosome	IDA IDA: Inferred from direct assay	8937994	GOA
colocalizes with midbody	IDA IDA: Inferred from direct assay	22965878	GOA
located in midbody	IDA IDA: Inferred from direct assay	17115030	GOA
located in mitotic spindle	IDA IDA: Inferred from direct assay	17115030	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	8937994	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	8937994	GOA
located in spindle midzone	IDA IDA: Inferred from direct assay	17115030	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	17115030	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PKP4 Protein Structure

Arm

0
200
400
600
800
1000
1192 a.a.

Protein Preferred Names	Protein Names
plakophilin-4	catenin 4

PKP4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10614	PKP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	PKP4	NCBI