PPHLN1 (periphilin 1)

2016-04-01  

Identity

HGNC
PPHLN1
LOCATION
12q12
LOCUSID
51535
ALIAS
CR,HSPC206,HSPC232
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51535
MIM: 608150
HGNC: 19369
Ensembl: ENSG00000134283

Variants:

dbSNP: 51535
ClinVar: 51535
TCGA: ENSG00000134283
COSMIC: PPHLN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134283ENST00000256678F8W6A0
ENSG00000134283ENST00000317560F8WF16
ENSG00000134283ENST00000337898B7Z8L1
ENSG00000134283ENST00000358314Q8NEY8
ENSG00000134283ENST00000395568Q8NEY8
ENSG00000134283ENST00000395580Q8NEY8
ENSG00000134283ENST00000432191Q8NEY8
ENSG00000134283ENST00000449194Q8NEY8
ENSG00000134283ENST00000546750F8VPY7
ENSG00000134283ENST00000547847F8VWU8
ENSG00000134283ENST00000549190F8W0Q9
ENSG00000134283ENST00000551658F8VXV7
ENSG00000134283ENST00000551723F8VP48
ENSG00000134283ENST00000552429F8VRK2
ENSG00000134283ENST00000552761Q8NEY8
ENSG00000134283ENST00000610488Q8NEY8
ENSG00000134283ENST00000613154Q8NEY8
ENSG00000134283ENST00000619544Q8NEY8

Expression (GTEx)

0
5
10
15
20
25
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

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
260224162015GENE SILENCING. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells.58
256086632015Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma.56
128534572003Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope.9
268535312016Position-effect variegation revisited: HUSHing up heterochromatin in human cells.6
154744622004Overexpression of CR/periphilin downregulates Cdc7 expression and induces S-phase arrest.3
197308982010Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.1

Citation

Dessen P

PPHLN1 (periphilin 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/55697/pphln1