PINK1 (PTEN induced kinase 1)

2003-02-01  

Identity

HGNC
PINK1
LOCATION
1p36.12
LOCUSID
65018
ALIAS
BRPK,PARK6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 65018
MIM: 608309
HGNC: 14581
Ensembl: ENSG00000158828

Variants:

dbSNP: 65018
ClinVar: 65018
TCGA: ENSG00000158828
COSMIC: PINK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158828ENST00000321556Q9BXM7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Parkinson's diseaseKEGGhsa05012
MitophagyREACTOMER-HSA-5205647
Pink/Parkin Mediated MitophagyREACTOMER-HSA-5205685
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

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
150875082004Hereditary early-onset Parkinson's disease caused by mutations in PINK1.937
200984162010PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1.908
166729812006Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin.621
204041072010PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.581
262669772015The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy.511
256115072015The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson's disease.475
220788852011PINK1 and Parkin target Miro for phosphorylation and degradation to arrest mitochondrial motility.411
247845822014Ubiquitin is phosphorylated by PINK1 to activate parkin.399
192790122009Loss of PINK1 function promotes mitophagy through effects on oxidative stress and mitochondrial fission.376
247515362014PINK1 phosphorylates ubiquitin to activate Parkin E3 ubiquitin ligase activity.349

Citation

Dessen P

PINK1 (PTEN induced kinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41720/pink1