PKP1 (plakophilin 1)

2003-11-01  

Identity

HGNC
PKP1
LOCATION
1q32.1
LOCUSID
5317
ALIAS
B6P,EDSFS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5317
MIM: 601975
HGNC: 9023
Ensembl: ENSG00000081277

Variants:

dbSNP: 5317
ClinVar: 5317
TCGA: ENSG00000081277
COSMIC: PKP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081277ENST00000263946Q13835
ENSG00000081277ENST00000352845Q13835
ENSG00000081277ENST00000367324Q13835
ENSG00000081277ENST00000367324A0A024R952

Expression (GTEx)

0
500
1000
1500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Apoptotic execution phaseREACTOMER-HSA-75153
Apoptotic cleavage of cellular proteinsREACTOMER-HSA-111465
Apoptotic cleavage of cell adhesion proteinsREACTOMER-HSA-351906
Developmental BiologyREACTOMER-HSA-1266738
Neutrophil degranulationREACTOMER-HSA-6798695
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
128400722003Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.40
191652322009Genome-wide association study of panic disorder in the Japanese population.31
201569632010Plakophilin 1 stimulates translation by promoting eIF4A1 activity.31
156639512005Structure of the armadillo repeat domain of plakophilin 1.30
206137782010Plakophilin-1 localizes to the nucleus and interacts with single-stranded DNA.20
176683532007Decreased plakophilin-1 expression promotes increased motility in head and neck squamous cell carcinoma cells.19
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18

Citation

Dessen P

PKP1 (plakophilin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41729/pkp1-(plakophilin-1)