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Identification
HMDB Protein ID HMDBP01217
Secondary Accession Numbers
  • 6513
Name Serine/threonine-protein kinase PINK1, mitochondrial
Synonyms
  1. BRPK
  2. PTEN-induced putative kinase protein 1
Gene Name PINK1
Protein Type Unknown
Biological Properties
General Function Involved in protein kinase activity
Specific Function Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating mitochondrial proteins
Pathways Not Available
Reactions Not Available
GO Classification
Function
binding
catalytic activity
transferase activity
transferase activity, transferring phosphorus-containing groups
kinase activity
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
adenyl ribonucleotide binding
atp binding
protein kinase activity
protein serine/threonine kinase activity
Process
phosphorus metabolic process
phosphate metabolic process
metabolic process
cellular metabolic process
protein amino acid phosphorylation
phosphorylation
Cellular Location
  1. Single-pass membrane protein
  2. Mitochondrion outer membrane
Gene Properties
Chromosome Location Chromosome:1
Locus 1p36
SNPs PINK1
Gene Sequence
>1746 bp
ATGGCGGTGCGACAGGCGCTGGGCCGCGGCCTGCAGCTGGGTCGAGCGCTGCTGCTGCGC
TTCACGGGCAAGCCCGGCCGGGCCTACGGCTTGGGGCGGCCGGGCCCGGCGGCGGGCTGT
GTCCGCGGGGAGCGTCCAGGCTGGGCCGCAGGACCGGGCGCGGAGCCTCGCAGGGTCGGG
CTCGGGCTCCCTAACCGTCTCCGCTTCTTCCGCCAGTCGGTGGCCGGGCTGGCGGCGCGG
TTGCAGCGGCAGTTCGTGGTGCGGGCCTGGGGCTGCGCGGGCCCTTGCGGCCGGGCAGTC
TTTCTGGCCTTCGGGCTAGGGCTGGGCCTCATCGAGGAAAAACAGGCGGAGAGCCGGCGG
GCGGTCTCGGCCTGTCAGGAGATCCAGGCAATTTTTACCCAGAAAAGCAAGCCGGGGCCT
GACCCGTTGGACACGAGACGCTTGCAGGGCTTTCGGCTGGAGGAGTATCTGATAGGGCAG
TCCATTGGTAAGGGCTGCAGTGCTGCTGTGTATGAAGCCACCATGCCTACATTGCCCCAG
AACCTGGAGGTGACAAAGAGCACCGGGTTGCTTCCAGGGAGAGGCCCAGGTACCAGTGCA
CCAGGAGAAGGGCAGGAGCGAGCTCCGGGGGCCCCTGCCTTCCCCTTGGCCATCAAGATG
ATGTGGAACATCTCGGCAGGTTCCTCCAGCGAAGCCATCTTGAACACAATGAGCCAGGAG
CTGGTCCCAGCGAGCCGAGTGGCCTTGGCTGGGGAGTATGGAGCAGTCACTTACAGAAAA
TCCAAGAGAGGTCCCAAGCAACTAGCCCCTCACCCCAACATCATCCGGGTTCTCCGCGCC
TTCACCTCTTCCGTGCCGCTGCTGCCAGGGGCCCTGGTCGACTACCCTGATGTGCTGCCC
TCACGCCTCCACCCTGAAGGCCTGGGCCATGGCCGGACGCTGTTCCTCGTTATGAAGAAC
TATCCCTGTACCCTGCGCCAGTACCTTTGTGTGAACACACCCAGCCCCCGCCTCGCCGCC
ATGATGCTGCTGCAGCTGCTGGAAGGCGTGGACCATCTGGTTCAACAGGGCATCGCGCAC
AGAGACCTGAAATCCGACAACATCCTTGTGGAGCTGGACCCAGACGGCTGCCCCTGGCTG
GTGATCGCAGATTTTGGCTGCTGCCTGGCTGATGAGAGCATCGGCCTGCAGTTGCCCTTC
AGCAGCTGGTACGTGGATCGGGGCGGAAACGGCTGTCTGATGGCCCCAGAGGTGTCCACG
GCCCGTCCTGGCCCCAGGGCAGTGATTGACTACAGCAAGGCTGATGCCTGGGCAGTGGGA
GCCATCGCCTATGAAATCTTCGGGCTTGTCAATCCCTTCTACGGCCAGGGCAAGGCCCAC
CTTGAAAGCCGCAGCTACCAAGAGGCTCAGCTACCTGCACTGCCCGAGTCAGTGCCTCCA
GACGTGAGACAGTTGGTGAGGGCACTGCTCCAGCGAGAGGCCAGCAAGAGACCATCTGCC
CGAGTAGCCGCAAATGTGCTTCATCTAAGCCTCTGGGGTGAACATATTCTAGCCCTGAAG
AATCTGAAGTTAGACAAGATGGTTGGCTGGCTCCTCCAACAATCGGCCGCCACTTTGTTG
GCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCT
AACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCC
CTGTGA
Protein Properties
Number of Residues 581
Molecular Weight 62768.4
Theoretical pI 9.59
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 94-110
Protein Sequence
>Serine/threonine-protein kinase PINK1, mitochondrial
MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVG
LGLPNRLRFFRQSVAGLAARLQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRR
AVSACQEIQAIFTQKSKPGPDPLDTRRLQGFRLEEYLIGQSIGKGCSAAVYEATMPTLPQ
NLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNISAGSSSEAILNTMSQE
LVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLP
SRLHPEGLGHGRTLFLVMKNYPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAH
RDLKSDNILVELDPDGCPWLVIADFGCCLADESIGLQLPFSSWYVDRGGNGCLMAPEVST
ARPGPRAVIDYSKADAWAVGAIAYEIFGLVNPFYGQGKAHLESRSYQEAQLPALPESVPP
DVRQLVRALLQREASKRPSARVAANVLHLSLWGEHILALKNLKLDKMVGWLLQQSAATLL
ANRLTEKCCVETKMKMLFLANLECETLCQAALLLCSWRAAL
GenBank ID Protein 14149100
UniProtKB/Swiss-Prot ID Q9BXM7
UniProtKB/Swiss-Prot Entry Name PINK1_HUMAN
PDB IDs Not Available
GenBank Gene ID AB053323
GeneCard ID PINK1
GenAtlas ID PINK1
HGNC ID HGNC:14581
References
General References
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  4. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR: Patterns of somatic mutation in human cancer genomes. Nature. 2007 Mar 8;446(7132):153-8. [PubMed:17344846 ]
  5. Unoki M, Nakamura Y: Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway. Oncogene. 2001 Jul 27;20(33):4457-65. [PubMed:11494141 ]
  6. Nakajima A, Kataoka K, Hong M, Sakaguchi M, Huh NH: BRPK, a novel protein kinase showing increased expression in mouse cancer cell lines with higher metastatic potential. Cancer Lett. 2003 Nov 25;201(2):195-201. [PubMed:14607334 ]
  7. Zhou C, Huang Y, Shao Y, May J, Prou D, Perier C, Dauer W, Schon EA, Przedborski S: The kinase domain of mitochondrial PINK1 faces the cytoplasm. Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):12022-7. doi: 10.1073/pnas.0802814105. Epub 2008 Aug 7. [PubMed:18687899 ]
  8. Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR: PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol. 2004 Sep;56(3):336-41. [PubMed:15349860 ]
  9. Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N: Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol. 2004 Sep;56(3):424-7. [PubMed:15349870 ]
  10. Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB: Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol. 2004 Dec;61(12):1898-904. [PubMed:15596610 ]
  11. Healy DG, Abou-Sleiman PM, Gibson JM, Ross OA, Jain S, Gandhi S, Gosal D, Muqit MM, Wood NW, Lynch T: PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology. 2004 Oct 26;63(8):1486-8. [PubMed:15505171 ]
  12. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW: Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science. 2004 May 21;304(5674):1158-60. Epub 2004 Apr 15. [PubMed:15087508 ]
  13. Tan EK, Yew K, Chua E, Shen H, Jamora RD, Lee E, Puong KY, Zhao Y, Pavanni R, Wong MC, Puvan K, Yih Y, Tan LC: Analysis of PINK1 in Asian patients with familial parkinsonism. Clin Genet. 2005 Nov;68(5):468-70. [PubMed:16207217 ]
  14. Klein C, Djarmati A, Hedrich K, Schafer N, Scaglione C, Marchese R, Kock N, Schule B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP: PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet. 2005 Sep;13(9):1086-93. [PubMed:15970950 ]
  15. Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G: Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet. 2005 Nov 15;14(22):3477-92. Epub 2005 Oct 5. [PubMed:16207731 ]
  16. Li Y, Tomiyama H, Sato K, Hatano Y, Yoshino H, Atsumi M, Kitaguchi M, Sasaki S, Kawaguchi S, Miyajima H, Toda T, Mizuno Y, Hattori N: Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology. 2005 Jun 14;64(11):1955-7. [PubMed:15955953 ]
  17. Bonifati V, Rohe CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA: Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology. 2005 Jul 12;65(1):87-95. [PubMed:16009891 ]
  18. Abou-Sleiman PM, Muqit MM, McDonald NQ, Yang YX, Gandhi S, Healy DG, Harvey K, Harvey RJ, Deas E, Bhatia K, Quinn N, Lees A, Latchman DS, Wood NW: A heterozygous effect for PINK1 mutations in Parkinson's disease? Ann Neurol. 2006 Oct;60(4):414-9. [PubMed:16969854 ]
  19. Leutenegger AL, Salih MA, Ibanez P, Mukhtar MM, Lesage S, Arabi A, Lohmann E, Durr A, Ahmed AE, Brice A: Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. Arch Neurol. 2006 Sep;63(9):1257-61. [PubMed:16966503 ]
  20. Chishti MA, Bohlega S, Ahmed M, Loualich A, Carroll P, Sato C, St George-Hyslop P, Westaway D, Rogaeva E: T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. Arch Neurol. 2006 Oct;63(10):1483-5. [PubMed:17030667 ]
  21. Ibanez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, Agid Y, Durr A, Brice A: Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain. 2006 Mar;129(Pt 3):686-94. Epub 2006 Jan 9. [PubMed:16401616 ]
  22. Tang B, Xiong H, Sun P, Zhang Y, Wang D, Hu Z, Zhu Z, Ma H, Pan Q, Xia JH, Xia K, Zhang Z: Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. Hum Mol Genet. 2006 Jun 1;15(11):1816-25. Epub 2006 Apr 21. [PubMed:16632486 ]
  23. Tan EK, Yew K, Chua E, Puvan K, Shen H, Lee E, Puong KY, Zhao Y, Pavanni R, Wong MC, Jamora D, de Silva D, Moe KT, Woon FP, Yuen Y, Tan L: PINK1 mutations in sporadic early-onset Parkinson's disease. Mov Disord. 2006 Jun;21(6):789-93. [PubMed:16482571 ]
  24. Fung HC, Chen CM, Hardy J, Singleton AB, Lee-Chen GJ, Wu YR: Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. Neurosci Lett. 2006 Feb 6;394(1):33-6. Epub 2005 Oct 27. [PubMed:16257123 ]
  25. Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM: PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719. [PubMed:18330912 ]