Pkp1 plakophilin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pkp1provided by MGI
Official Full Name: plakophilin 1provided by MGI
Primary source: MGI:MGI:1328359
See related: Ensembl:ENSMUSG00000026413 AllianceGenome:MGI:1328359
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
Summary: Predicted to enable DNA binding activity; cadherin binding activity; and lamin binding activity. Involved in several processes, including ameloblast differentiation; desmosome organization; and positive regulation of keratinocyte differentiation. Located in several cellular components, including desmosome; nucleus; and plasma membrane. Is active in cornified envelope. Is expressed in several structures, including alimentary system; respiratory system; sensory organ; skin; and urinary system. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Orthologous to human PKP1 (plakophilin 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in stomach adult (RPKM 26.4), limb E14.5 (RPKM 12.9) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 E4; 1 59.35 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (135799132..135846945, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (135871394..135919207, complement)

Chromosome 1 - NC_000067.7 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 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?

Pkp1 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.
PKP1 was identified as a new potential tumor suppressor in human melanoma.
Title: Coexpression network analysis identified that plakophilin 1 is associated with the metastasis in human melanoma.
PKP1 has roles in desmosome and tight junction function and in growth control, a function that is crucial in wound healing and epidermal carcinogenesis
Title: Growth Retardation, Loss of Desmosomal Adhesion, and Impaired Tight Junction Function Identify a Unique Role of Plakophilin 1 In Vivo.
This approach identified a key signaling event, phosphorylation of a desmosome component, PKP1 (plakophilin-1) by RIPK4 (receptor-interacting serine-threonine kinase 4) during epidermal differentiation.
Title: Phosphorylation of Pkp1 by RIPK4 regulates epidermal differentiation and skin tumorigenesis.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI528551 (e-PCR)
- UniSTS:178475

Y07941 (e-PCR)
- UniSTS:163264

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	IBA Inferred from Biological aspect of Ancestor more info
enables lamin binding	IEA Inferred from Electronic Annotation more info
enables lamin 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 ameloblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in desmosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in desmosome maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament bundle assembly	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament bundle assembly	ISO Inferred from Sequence Orthology more info
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 cap-dependent translational initiation	ISS Inferred from Sequence or Structural Similarity more info
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 gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in transepithelial water transport	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
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 desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear stress granule	ISS Inferred from Sequence or Structural Similarity more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: plakophilin-1

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_001313701.1 → NP_001300630.1 plakophilin-1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC162441, AK036856, BC139042, Y07941

Consensus CDS

CCDS15322.1

UniProtKB/Swiss-Prot

B2RSX3, P97350

Related

ENSMUSP00000128418.2, ENSMUST00000163260.8

Conserved Domains (2) summary

smart00185
Location:277 → 317

ARM; Armadillo/beta-catenin-like repeats

sd00043
Location:240 → 273

ARM; armadillo repeat [structural motif]
NM_019645.3 → NP_062619.1 plakophilin-1

See identical proteins and their annotated locations for NP_062619.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC162441, AK036856, AK079429, BC139042, Y07941

Consensus CDS

CCDS15322.1

UniProtKB/Swiss-Prot

B2RSX3, P97350

Related

ENSMUSP00000027667.7, ENSMUST00000027667.13

Conserved Domains (2) summary

smart00185
Location:277 → 317

ARM; Armadillo/beta-catenin-like repeats

sd00043
Location:240 → 273

ARM; armadillo repeat [structural motif]