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Pkp1 plakophilin 1 [ Mus musculus (house mouse) ]

Gene ID: 18772, updated on 8-Feb-2024

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 cadherin binding activity and lamin binding activity. Predicted to be involved in several processes, including cell-cell junction assembly; intermediate filament bundle assembly; and negative regulation of mRNA catabolic process. Predicted to act upstream of or within cell adhesion. Located in desmosome. Is expressed in alimentary system; larynx; sensory organ; skin; and urethra. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Orthologous to human PKP1 (plakophilin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in stomach adult (RPKM 26.4), limb E14.5 (RPKM 12.9) and 9 other tissues See more
Orthologs
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Genomic context

See Pkp1 in Genome Data Viewer
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_000067.7Genomic Context describing neighboring genes Neighboring gene ladinin Neighboring gene troponin T2, cardiac Neighboring gene STARR-seq mESC enhancer starr_02397 Neighboring gene immunoglobulin-like and fibronectin type III domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_02398 Neighboring gene STARR-seq mESC enhancer starr_02399 Neighboring gene STARR-positive B cell enhancer ABC_E10039 Neighboring gene STARR-positive B cell enhancer ABC_E4348 Neighboring gene transmembrane protein 9 Neighboring gene achaete-scute family bHLH transcription factor 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
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
acts_upstream_of_or_within cell adhesion IEA
Inferred from Electronic Annotation
more info
 
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 intermediate filament bundle assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of mRNA catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
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 desmosome IDA
Inferred from Direct Assay
more info
PubMed 
part_of messenger ribonucleoprotein complex ISO
Inferred from Sequence Orthology
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 IEA
Inferred from Electronic Annotation
more info
 
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
 

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)

  1. NM_001313701.1NP_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:277317
    ARM; Armadillo/beta-catenin-like repeats
    sd00043
    Location:240273
    ARM; armadillo repeat [structural motif]
  2. NM_019645.3NP_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:277317
    ARM; Armadillo/beta-catenin-like repeats
    sd00043
    Location:240273
    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

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    135799132..135846945 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)