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Pkp1 Gene Detail
Summary
  • Symbol
    Pkp1
  • Name
    plakophilin 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328359
    NCBI Gene: 18772
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:135799133-135846945 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 59.35 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1246 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1328359
 protein coding gene Chr1:135799132-135846945 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016531
 protein coding gene Chr1:139658923-139707665 (-)
A/J MGP_AJ_G0016514
 protein coding gene Chr1:134375289-134422931 (-)
AKR/J MGP_AKRJ_G0016479
 protein coding gene Chr1:138373862-138427449 (-)
BALB/cJ MGP_BALBcJ_G0016474
 protein coding gene Chr1:134696792-134747874 (-)
C3H/HeJ MGP_C3HHeJ_G0016300
 protein coding gene Chr1:138471520-138520194 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016935
 protein coding gene Chr1:144685187-144734195 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014646
 protein coding gene Chr1:127480095-127529970 (-)
CAST/EiJ MGP_CASTEiJ_G0015880
 protein coding gene Chr1:137552302-137602601 (-)
CBA/J MGP_CBAJ_G0016273
 protein coding gene Chr1:149692621-149748082 (-)
DBA/2J MGP_DBA2J_G0016379
 protein coding gene Chr1:133372044-133420116 (-)
FVB/NJ MGP_FVBNJ_G0016378
 protein coding gene Chr1:132016704-132066971 (-)
LP/J MGP_LPJ_G0016450
 protein coding gene Chr1:140890208-140940126 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016403
 protein coding gene Chr1:155348788-155401284 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016971
 protein coding gene Chr1:138142664-138191162 (-)
PWK/PhJ MGP_PWKPhJ_G0015666
 protein coding gene Chr1:132410383-132459634 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015453
 protein coding gene Chr1:137121127-137171172 (-)
WSB/EiJ MGP_WSBEiJ_G0015943
 protein coding gene Chr1:138178024-138226983 (-)



Homology
more
  • Human Ortholog
    PKP1, plakophilin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PKP1, plakophilin 1
  • Synonyms
    B6P, EDSFS
  • Links
    NCBI Gene ID: 5317
    neXtProt AC: NX_Q13835
    UniProt: Q13835

  • Chr Location
    1q32.1; chr1:201283452-201332993 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PKP1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 1 allele in 1 genetic background
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit reduced birth weight, absent whiskers, and neonatal lethality associated with skin fragility, skin lesions, loss of desmosomal adhesion, and impaired skin barrier function due to abnormal tight junction formation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    17
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    822
  • Tissues
    43
  • cDNA Data
    52
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026413 Ensembl Gene Model | MGI Sequence Detail 47813 C57BL/6J ±  kb
    transcript ENSMUST00000027667 Ensembl | MGI Sequence Detail 4669 Not Applicable  
    polypeptide ENSMUSP00000027667 Ensembl | MGI Sequence Detail 728 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 58
      cDNA 52
      Primer pair 4
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2138285
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 12
      Gene Ontology 17
      Phenotypes 11
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:327901 Ye Q, et al., Understanding the development of oral epithelial organs through single cell transcriptomic analysis. Development. 2022 Aug 15;149(16):dev200539
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory