Pkp3 MGI Mouse Gene Detail - MGI:1891830

Symbol

Pkp3
Name

plakophilin 3
Synonyms

2310056L12Rik

Feature Type

protein coding gene
IDs

MGI:1891830
NCBI Gene: 56460
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr7:140658202-140670424 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 86.34 cM, cytoband F5
Mapping Data

2 experiments

SNPs within 2kb

298 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1891830	protein coding gene	Chr7:140658131-140670424 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033209	protein coding gene	Chr7:146242940-146260223 (+)
A/J	MGP_AJ_G0033191	protein coding gene	Chr7:142066937-142078991 (+)
AKR/J	MGP_AKRJ_G0033123	protein coding gene	Chr7:145982302-145995085 (+)
BALB/cJ	MGP_BALBcJ_G0033192	protein coding gene	Chr7:141806243-141820311 (+)
C3H/HeJ	MGP_C3HHeJ_G0032906	protein coding gene	Chr7:145731837-145745465 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033703	protein coding gene	Chr7:151592382-151610325 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030676	protein coding gene	Chr7:143278646-143290343 (+)
CAST/EiJ	MGP_CASTEiJ_G0032236	protein coding gene	Chr7:138035988-138049338 (+)
CBA/J	MGP_CBAJ_G0032878	protein coding gene	Chr7:156706423-156719023 (+)
DBA/2J	MGP_DBA2J_G0033030	protein coding gene	Chr7:140015100-140028301 (+)
FVB/NJ	MGP_FVBNJ_G0032983	protein coding gene	Chr7:139918480-139930937 (+)
LP/J	MGP_LPJ_G0033125	protein coding gene	Chr7:147733377-147745975 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033016	protein coding gene	Chr7:157388892-157402726 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033723	protein coding gene	Chr7:144960812-144974769 (+)
PWK/PhJ	MGP_PWKPhJ_G0031940	protein coding gene	Chr7:133285839-133302943 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031787	protein coding gene	Chr7:131771990-131786727 (+)
WSB/EiJ	MGP_WSBEiJ_G0032347	protein coding gene	Chr7:145905126-145921349 (+)

Human Ortholog

PKP3, plakophilin 3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PKP3, plakophilin 3
Links

HGNC:9025

NCBI Gene ID: 11187

neXtProt AC: NX_Q9Y446

UniProt: Q9Y446
Chr Location

11p15.5; chr11:392596-404908 (+) GRCh38

MGI Vertebrate Homology

Pkp3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PKP3
Gene Tree

Pkp3

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Phenotype Summary

31 phenotypes from 2 alleles in 2 genetic backgrounds
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

8
Endonuclease-mediated

3
Radiation induced

1
Targeted

4
Genomic Mutations

1 involving Pkp3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit retarded hair growth, epidermal thickening and abnormal hair follicles that lead to secondary alopecia and acute dermatitis.

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All GO Annotations

48
GO References

16

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.

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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

710
Tissues

2
cDNA Data

96
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pkp3

ZFIN pkp3a

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All Sequences

58
RefSeq

8
UniProt

4
CCDS

CCDS21999.1, CCDS52437.1

Ensembl

ENSMUSG00000054065 (Evidence)
NCBI Gene

56460

			Length	Strain/Species	Flank
genomic	56460	NCBI Gene Model \| MGI Sequence Detail	12223	C57BL/6J	± kb
transcript	NM_019762	RefSeq \| MGI Sequence Detail	2857	C57BL/6
polypeptide	Q9QY23	UniProt \| EBI \| MGI Sequence Detail	797	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000012792 plakophilin-3

(term hierarchy)
InterPro Domains

IPR000225 Armadillo

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR028435 Plakophilin/Delta catenin

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All nucleic 97

cDNA 96

Primer pair 1

Microarray probesets 5

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MGI:1917432

Summaries

All 54

Developmental Gene Expression 8

Gene Ontology 16

Phenotypes 12
Earliest

J:64912 Bonne S, et al., Plakophilin-3, a novel armadillo-like protein present in nuclei and desmosomes of epithelial cells. J Cell Sci. 1999 Jul;112(Pt 14):2265-76
Latest

J:352393 Muller L, et al., Plakophilin 3 facilitates G1/S phase transition and enhances proliferation by capturing RB protein in the cytoplasm and promoting EGFR signaling. Cell Rep. 2023 Jan 31;42(1):112031

TSS for Pkp3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr69906	Chr7:140658039-140658050 (+)	-157 bp
Tssr69907	Chr7:140658083-140658094 (+)	-113 bp
Tssr69908	Chr7:140658101-140658120 (+)	-91 bp
Tssr69909	Chr7:140658179-140658227 (+)	1 bp
Tssr69910	Chr7:140659038-140659080 (+)	857 bp
Tssr69911	Chr7:140659659-140659668 (+)	1,462 bp
Tssr69912	Chr7:140659672-140659694 (+)	1,481 bp
Tssr69913	Chr7:140659697-140659719 (+)	1,506 bp
Tssr69914	Chr7:140659761-140659772 (+)	1,565 bp
Tssr69915	Chr7:140668034-140668097 (+)	9,864 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)
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