Pkp1 MGI Mouse Gene Detail - MGI:1328359

Symbol

Pkp1
Name

plakophilin 1

Feature Type

protein coding gene
IDs

MGI:1328359
NCBI Gene: 18772
Alliance

gene page
Transcription Start Sites

8 TSS

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

SNPs within 2kb

1246 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

Human Ortholog

PKP1, plakophilin 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PKP1, plakophilin 1
Synonyms

B6P, EDSFS
Links

HGNC:9023

NCBI Gene ID: 5317

UniProt: Q13835
Chr Location

1q32.1; chr1:201283452-201332993 (+) GRCh38

MGI Vertebrate Homology

Pkp1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PKP1
Gene Tree

Pkp1

Diseases

1 with human PKP1 associations

				Human Disease	Mouse Models
				ectodermal dysplasia IDs ectodermal dysplasia DOID:2121 ICD9CM:757.31 MESH:D004476 NCI:C84683 OMIM:PS305100 ORDO:79373 UMLS_CUI:C0013575

Click on a disease name to see all genes associated with that disease.

less

Phenotype Summary

19 phenotypes from 1 allele in 1 genetic background
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

12
Chemically induced (other)

2
Endonuclease-mediated

3
Radiation induced

1
Targeted

6
Genomic Mutations

3 involving Pkp1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

36 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

less

All GO Annotations

82
GO References

18

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.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

828
Tissues

44
cDNA Data

52
Literature Summary

12

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pkp1

ZFIN pkp1b

less

All Sequences

39
RefSeq

4
UniProt

2
CCDS

CCDS15322.1

Ensembl

ENSMUSG00000026413 (Evidence)
NCBI Gene

18772

			Length	Strain/Species	Flank
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

less

UniProt

2 Sequences
Protein Ontology

PR:000012790 plakophilin-1

(term hierarchy)
InterPro Domains

IPR000225 Armadillo

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR028435 Plakophilin/Delta catenin
GlyGen

P97350 2 sites, 1 O-linked glycan (1 site)

less

All nucleic 59

cDNA 52

Primer pair 5

Other 2

Microarray probesets 3

less

MGI:2138285

Summaries

All 59

Developmental Gene Expression 12

Gene Ontology 18

Phenotypes 12
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

TSS for Pkp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr13910	Chr1:135847092-135847097 (-)	-150 bp
Tssr13909	Chr1:135847080-135847091 (-)	-141 bp
Tssr13908	Chr1:135847059-135847077 (-)	-123 bp
Tssr13907	Chr1:135847032-135847045 (-)	-94 bp
Tssr13906	Chr1:135846937-135846950 (-)	1 bp
Tssr13905	Chr1:135846902-135846913 (-)	37 bp
Tssr13904	Chr1:135846862-135846873 (-)	77 bp
Tssr13903	Chr1:135799625-135799627 (-)	47,319 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/30/2025 MGI 6.24