Pkp3 plakophilin 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pkp3provided by MGI
Official Full Name: plakophilin 3provided by MGI
Primary source: MGI:MGI:1891830
See related: Ensembl:ENSMUSG00000054065 AllianceGenome:MGI:1891830
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2310056L12Rik
Summary: Predicted to enable alpha-catenin binding activity; cadherin binding activity; and enzyme binding activity. Involved in several processes, including desmosome assembly; epithelial structure maintenance; and positive regulation of cell cycle G1/S phase transition. Located in adherens junction; cytoplasm; and desmosome. Is active in cornified envelope. Is expressed in skin. Orthologous to human PKP3 (plakophilin 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in small intestine adult (RPKM 54.7), colon adult (RPKM 49.3) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F5; 7 86.34 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (140658202..140670424)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (141078229..141090511)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Plakophilin 3 facilitates G1/S phase transition and enhances proliferation by capturing RB protein in the cytoplasm and promoting EGFR signaling.
Title: Plakophilin 3 facilitates G1/S phase transition and enhances proliferation by capturing RB protein in the cytoplasm and promoting EGFR signaling.
Plakophilin3 loss leads to increased adenoma formation and rectal prolapse in APC(min) mice.
Title: Plakophilin3 loss leads to increased adenoma formation and rectal prolapse in APC(min) mice.
Pkp3 regulates desmoglein membrane availability, whereas Pkp1 but not Pkp3 is required for desmoglein 3 clustering.
Title: Plakophilin 1 but not plakophilin 3 regulates desmoglein clustering.
data highlight a novel role for hematopoietic PKP3 in the regulation of both locally and systemically induced immune responses.
Title: Hematopoietic plakophilin-3 regulates acute tissue-specific and systemic inflammation in mice.
PKP3 gene down regulation is associated with bladder cancer invasion.
Title: Up-regulation of plakophilin-2 and Down-regulation of plakophilin-3 are correlated with invasiveness in bladder cancer.
PKP3 plays a critical role in morphogenesis of HFs and shafts and in limiting inflammatory responses in the skin
Title: Plakophilin-3-deficient mice develop hair coat abnormalities and are prone to cutaneous inflammation.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables alpha-catenin binding	IEA Inferred from Electronic Annotation more info
enables alpha-catenin binding	ISO Inferred from Sequence Orthology more info
enables cadherin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cell adhesion molecule binding	IEA Inferred from Electronic Annotation more info
enables cell adhesion molecule binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in desmosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in desmosome assembly	ISO Inferred from Sequence Orthology more info
involved_in desmosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial structure maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mRNA catabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mRNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell cycle G1/S phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in regulation of cytokine production involved in immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in spot adherens junction	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: plakophilin-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001162924.2 → NP_001156396.1 plakophilin-3 isoform 2

See identical proteins and their annotated locations for NP_001156396.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate exon for its 5' UTR and 5' coding region, compared to variant 1, that results in a protein (isoform 2) with a longer and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC109272

Consensus CDS

CCDS52437.1

UniProtKB/Swiss-Prot

Q9QY23

Related

ENSMUSP00000101654.3, ENSMUST00000106039.9

Conserved Domains (2) summary

cd00020
Location:346 → 457

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

sd00043
Location:346 → 371

ARM; armadillo repeat [structural motif]
NM_001415817.1 → NP_001402746.1 plakophilin-3 isoform 3

Status: VALIDATED

Source sequence(s)

AC109272
NM_019762.2 → NP_062736.2 plakophilin-3 isoform 1

See identical proteins and their annotated locations for NP_062736.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter protein (isoform 1).

Source sequence(s)

AC109272, BC090668, BC139775

Consensus CDS

CCDS21999.1

UniProtKB/Swiss-Prot

A4QPD8, Q0VGP3, Q3KQL7, Q9QY23

Related

ENSMUSP00000069961.5, ENSMUST00000066873.5

Conserved Domains (2) summary

cd00020
Location:321 → 432

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

sd00043
Location:321 → 346

ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

140658202..140670424

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017322376.1 → XP_017177865.1 plakophilin-3 isoform X1

Conserved Domains (2) summary

smart00185
Location:272 → 312

ARM; Armadillo/beta-catenin-like repeats

sd00043
Location:243 → 268

ARM; armadillo repeat [structural motif]