PKP3 (plakophilin 3)

2008-10-01  

Identity

HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 11187
MIM: 605561
HGNC: 9025
Ensembl: ENSG00000184363

Variants:

dbSNP: 11187
ClinVar: 11187
TCGA: ENSG00000184363
COSMIC: PKP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184363ENST00000331563Q9Y446
ENSG00000184363ENST00000525642H0YEY5
ENSG00000184363ENST00000527442E9PJR7
ENSG00000184363ENST00000528036E9PRW6
ENSG00000184363ENST00000531857E9PK71
ENSG00000184363ENST00000533249E9PKC4
ENSG00000184363ENST00000534401E9PQ15

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
127073042003Defining desmosomal plakophilin-3 interactions.52
164074092006Identification of the junctional plaque protein plakophilin 3 in cytoplasmic particles containing RNA-binding proteins and the recruitment of plakophilins 1 and 3 to stress granules.35
173916712007The transcription factor ZEB1 (deltaEF1) represses Plakophilin 3 during human cancer progression.35
187291892008Plakophilin3 downregulation leads to a decrease in cell adhesion and promotes metastasis.28
222238542012Common polymorphisms in the PKP3-SIGIRR-TMEM16J gene region are associated with susceptibility to tuberculosis.18
227016662012Plakophilin3 loss leads to an increase in PRL3 levels promoting K8 dephosphorylation, which is required for transformation and metastasis.18
258753552015MMP7 is required to mediate cell invasion and tumor formation upon Plakophilin3 loss.16
203482372010Desmosomal plakophilins in the prostate and prostatic adenocarcinomas: implications for diagnosis and tumor progression.15
208596502011E-cadherin and plakoglobin recruit plakophilin3 to the cell border to initiate desmosome assembly.15

Citation

Dessen P

PKP3 (plakophilin 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50409/pkp3