PINK1

PTEN induced putative kinase 1
Available structures PDB [1]
Identifiers
Symbols	PINK1; BRPK; FLJ27236; PARK6
External IDs	OMIM: 608309 MGI: 1916193 HomoloGene: 32672 GeneCards: PINK1 Gene
EC number	2.7.11.1
Gene Ontology Molecular function • nucleotide binding • magnesium ion binding • protein serine/threonine kinase activity • ATP binding • calcium-dependent protein kinase activity • kinase activity • ubiquitin protein ligase binding • C3HC4-type RING finger domain binding Cellular component • cytoplasm • mitochondrion • mitochondrial outer membrane • mitochondrial inner membrane • cytosol • membrane • integral to membrane Biological process • mitochondrion degradation • protein phosphorylation • response to stress • intracellular protein kinase cascade • cell death • peptidyl-serine phosphorylation • regulation of protein ubiquitination • positive regulation of synaptic transmission, dopaminergic • positive regulation of dopamine secretion • positive regulation of I-kappaB kinase/NF-kappaB cascade • regulation of protein complex assembly • positive regulation of release of cytochrome c from mitochondria Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	65018	68943
Ensembl	ENSG00000158828	ENSMUSG00000028756
UniProt	Q9BXM7	Q3U258
RefSeq (mRNA)	NM_032409.2	NM_026880.2
RefSeq (protein)	NP_115785.1	NP_081156.2
Location (UCSC)	Chr 1: 20.96 – 20.98 Mb	Chr 4: 137.87 – 137.88 Mb
PubMed search	[2]	[3]

PTEN-induced putative kinase 1 (PINK1) is a mitochondrial serine/threonine-protein kinase encoded by the PINK1 gene.

It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease.

External links

• GeneReviews/NCBI/NIH/UW entry on PINK1 Type of Young-Onset Parkinson Disease

Further reading

• Heutink P (2006). "PINK-1 and DJ-1--new genes for autosomal recessive Parkinson's disease". J. Neural Transm. Suppl.. Journal of Neural Transmission. Supplementa 70 (70): 215–9. doi:10.1007/978-3-211-45295-0_33. ISBN 978-3-211-28927-3. PMID 17017532. 
• Valente EM, Bentivoglio AR, Dixon PH, et al. (2001). "Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36". Am. J. Hum. Genet. 68 (4): 895–900. doi:10.1086/319522. PMC 1275643. PMID 11254447. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1275643. 
• Khan NL, Valente EM, Bentivoglio AR, et al. (2002). "Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study". Ann. Neurol. 52 (6): 849–53. doi:10.1002/ana.10417. PMID 12447943. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Bonifati V, Dekker MC, Vanacore N, et al. (2003). "Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7". Neurol. Sci. 23 Suppl 2: S59–60. doi:10.1007/s100720200069. PMID 12548343. 
• Valente EM, Brancati F, Caputo V, et al. (2003). "PARK6 is a common cause of familial parkinsonism". Neurol. Sci. 23 Suppl 2: S117–8. doi:10.1007/s100720200097. PMID 12548371. 
• Nakajima A, Kataoka K, Hong M, et al. (2004). "BRPK, a novel protein kinase showing increased expression in mouse cancer cell lines with higher metastatic potential". Cancer Lett. 201 (2): 195–201. doi:10.1016/S0304-3835(03)00443-9. PMID 14607334. 
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Valente EM, Abou-Sleiman PM, Caputo V, et al. (2004). "Hereditary early-onset Parkinson's disease caused by mutations in PINK1". Science 304 (5674): 1158–60. doi:10.1126/science.1096284. PMID 15087508. 
• Healy DG, Abou-Sleiman PM, Ahmadi KR, et al. (2004). "The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism". Ann. Neurol. 56 (3): 329–35. doi:10.1002/ana.20206. PMID 15349859. 
• Hatano Y, Li Y, Sato K, et al. (2004). "Novel PINK1 mutations in early-onset parkinsonism". Ann. Neurol. 56 (3): 424–7. doi:10.1002/ana.20251. PMID 15349870. 
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Hatano Y, Sato K, Elibol B, et al. (2006). "PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations". Neurology 63 (8): 1482–5. doi:10.1001/archneur.63.10.1482. PMID 15505170. 
• Healy DG, Abou-Sleiman PM, Gibson JM, et al. (2006). "PINK1 (PARK6) associated Parkinson disease in Ireland". Neurology 63 (8): 1486–8. PMID 15505171. 
• Rogaeva E, Johnson J, Lang AE, et al. (2005). "Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease". Arch. Neurol. 61 (12): 1898–904. doi:10.1001/archneur.61.12.1898. PMID 15596610. 
• Beilina A, Van Der Brug M, Ahmad R, et al. (2005). "Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability". Proc. Natl. Acad. Sci. U.S.A. 102 (16): 5703–8. doi:10.1073/pnas.0500617102. PMC 556294. PMID 15824318. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=556294. 
• Deng H, Le WD, Zhang X, et al. (2005). "G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients". Acta Neurol. Scand. 111 (6): 351–2. doi:10.1111/j.1600-0404.2005.00383.x. PMID 15876334. 
• Li Y, Tomiyama H, Sato K, et al. (2005). "Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism". Neurology 64 (11): 1955–7. doi:10.1212/01.WNL.0000164009.36740.4E. PMID 15955953.