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Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_032409 Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_032409.2, 112382374
Length 2680 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.
Product serine/threonine-protein kinase PINK1, mitochondrial precursor
Comment

Summary: This gene encodes a serine/threonine protein kinase that localizes to mitochondria. 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. [provided by RefSeq, Jul 2008].

RefSeq NP_115785.1
CDS 95..1840
Misc Feature(1)374..424
Misc Feature(2)776..778
Misc Feature(3)<905..1597
Misc Feature(4)order(917..919,1046..1057,1064..1066,1070..1072,
Misc Feature(5)order(917..919,1046..1057,1064..1066,1178..1180,
Misc Feature(6)order(1064..1066,1070..1072,1178..1180,1184..1186,
Misc Feature(7)order(1241..1261,1319..1330)
Misc Feature(8)1298..1300
Exon (1)1..481
Gene:PINK1
Gene Synonym:BRPK; PARK6
Exon (2)482..769
Gene:PINK1
Gene Synonym:BRPK; PARK6
Exon (3)770..870
Gene:PINK1
Gene Synonym:BRPK; PARK6
Exon (4)871..1053
Gene:PINK1
Gene Synonym:BRPK; PARK6
Exon (5)1054..1217
Gene:PINK1
Gene Synonym:BRPK; PARK6
Exon (6)1218..1345
Gene:PINK1
Gene Synonym:BRPK; PARK6
Exon (7)1346..1582
Gene:PINK1
Gene Synonym:BRPK; PARK6
Exon (8)1583..2660
Gene:PINK1
Gene Synonym:BRPK; PARK6
Translation MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVG LGLPNRLRFFRQSVAGLAARLQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRR AVSACQEIQAIFTQKSKPGPDPLDTRRLQGFRLEEYLIGQSIGKGCSAAVYEATMPTLPQ NLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNISAGSSSEAILNTMSQE LVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLP SRLHPEGLGHGRTLFLVMKNYPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAH RDLKSDNILVELDPDGCPWLVIADFGCCLADESIGLQLPFSSWYVDRGGNGCLMAPEVST ARPGPRAVIDYSKADAWAVGAIAYEIFGLVNPFYGQGKAHLESRSYQEAQLPALPESVPP DVRQLVRALLQREASKRPSARVAANVLHLSLWGEHILALKNLKLDKMVGWLLQQSAATLL ANRLTEKCCVETKMKMLFLANLECETLCQAALLLCSWRAAL
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Position Chain Variation Link
263..479+, cdbSNP:45630564
263..479+c, tdbSNP:45630563
263..438+a, tdbSNP:45540544
283+c, tdbSNP:45530340
312+c, tdbSNP:202048763
438+a, tdbSNP:148871409
520+dbSNP:
520+a, gdbSNP:151146709
528+c, tdbSNP:45604240
534+a, gdbSNP:138050841
537+g, tdbSNP:56297806
548+c, tdbSNP:45608139
652+c, gdbSNP:143204084
680+c, tdbSNP:35802484
681+c, tdbSNP:138302371
693+c, tdbSNP:149822257
719+c, gdbSNP:17852513
720+c, tdbSNP:34677717
725+a, gdbSNP:201885172
733+c, tdbSNP:139649940
744+a, cdbSNP:74315360
772+dbSNP:
772+a, gdbSNP:200024387
773+c, gdbSNP:45545034
774+g, tdbSNP:138018628
789+c, tdbSNP:144071530
830+c, tdbSNP:74315357
835+a, gdbSNP:149750658
839+g, tdbSNP:145650643
898+dbSNP:
898+a, gdbSNP:200708848
907+a, cdbSNP:28940284
929+c, tdbSNP:61735932
930+a, gdbSNP:74315358
938+a, tdbSNP:200036561
945+a, cdbSNP:113092523
951+c, tdbSNP:146691996
952+a, gdbSNP:148144773
963+a, gdbSNP:181675228
999+a, gdbSNP:201940147
1007+c, gdbSNP:112600292
1008+c, tdbSNP:7349186
1015+c, tdbSNP:200191396
1020+a, gdbSNP:74315355
1029+a, gdbSNP:202128685
1030+a, gdbSNP:56200357
1032+c, tdbSNP:74315359
1033+a, gdbSNP:142866598
1036+a, gdbSNP:145990823
1042+c, tdbSNP:142183624
1043+a, gdbSNP:200949139
1046+a, tdbSNP:139226733
1060+dbSNP:
1060+c, gdbSNP:199678436
1071+a, gdbSNP:142028165
1097+a, gdbSNP:144330127
1104+a, gdbSNP:184043309
1105+c, tdbSNP:149187537
1109+a, gdbSNP:55831733
1112+a, gdbSNP:3738136
1117+a, gdbSNP:35813094
1129+g, tdbSNP:201920474
1134+c, tdbSNP:28940285
1169+a, gdbSNP:76753586
1171+a, gdbSNP:144550985
1190+a, gdbSNP:200729715
1224+dbSNP:
1224+g, tdbSNP:34203620
1234+a, gdbSNP:55962214
1241+a, gdbSNP:45515602
1253+g, tdbSNP:200462866
1267+c, tdbSNP:45499398
1283+c, tdbSNP:139094526
1290+c, tdbSNP:119451946
1299+a, gdbSNP:200728364
1307+a, gdbSNP:145821082
1313+c, tdbSNP:145876364
1325+a, gdbSNP:45478900
1331+c, gdbSNP:202130946
1359+dbSNP:
1359+a, gdbSNP:201491485
1385+c, tdbSNP:74315361
1405+a, gdbSNP:74315356
1407+c, tdbSNP:183454580
1413+a, gdbSNP:45467995
1421+a, gdbSNP:148313557
1422+c, tdbSNP:138135040
1425+a, gdbSNP:143659957
1435+c, tdbSNP:140652495
1456+c, tdbSNP:56383368
1460+c, tdbSNP:45539432
1461+a, gdbSNP:150964528
1465+c, gdbSNP:199705273
1476+g, tdbSNP:144440543
1499..1520+a, gdbSNP:45499196
1513+a, gdbSNP:141433278
1519+c, tdbSNP:150183401
1520+a, gdbSNP:115477764
1523+a, tdbSNP:34416410
1568+c, tdbSNP:34208370
1569+a, gdbSNP:143620063
1582+a, gdbSNP:56217826
1596+dbSNP:
1596+a, gdbSNP:61744200
1638+a, gdbSNP:141363209
1643+c, tdbSNP:149466252
1656+a, cdbSNP:1043424
1698+c, tdbSNP:146126901
1699+a, gdbSNP:149070918
1715+g, tdbSNP:61749520
1796..1797+, tgdbSNP:71868225
1813+c, tdbSNP:201936304
1822+a, gdbSNP:149994404
1849+c, tdbSNP:200804593
1877+a, tdbSNP:686658
1880+a, gdbSNP:115768147
1894+a, gdbSNP:142119718
2019+c, tdbSNP:11554543
2021+c, gdbSNP:513414
2036+c, tdbSNP:1043443
2105+c, g, tdbSNP:512550
2108+a, tdbSNP:2320395
2189+c, gdbSNP:114112086
2255+c, gdbSNP:8064
2269+g, tdbSNP:147759776
2330+a, cdbSNP:16824318
2367..2370+, agtadbSNP:138181538
2370..2371+, aagtdbSNP:72151415
2372+a, gdbSNP:190393061
2381..2382+, aagtdbSNP:3077906
2385+a, gdbSNP:193299196
2404+g, tdbSNP:1043502
2407+c, gdbSNP:11554544
2410..2411+, ctgadbSNP:143763511
2411..2412+, ctgadbSNP:71797656
2426+c, tdbSNP:184877436
2467+a, gdbSNP:112126165
2495+c, tdbSNP:141140099
2510..2511+, ttcdbSNP:33999970
2511..2512+, ctt, t, ttcdbSNP:71760582
2512+c, tdbSNP:2078073
2512+c, tcttdbSNP:67252247
2513..2514+, cttdbSNP:71739484
2515..2516+, cttdbSNP:3077908
2557+c, tdbSNP:181532922
2562..2563+, aagdbSNP:34119921
2563..2564+, agag, gdbSNP:34361349
2564..2565+, gagadbSNP:71653624
2568..2569+, gagadbSNP:3077910
2576..2577+, ctaadbSNP:113674347
2577+a, cdbSNP:185791919
2647+c, tdbSNP:78349864
Gene SymbolPINK1
Gene SynonymBRPK; PARK6
Chromosome1
Locus Map1p36
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_032409 Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA. On-demand TBD TBD
Title Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila .
Author Song,S., Jang,S., Park,J., Bang,S., Choi,S., Kwon,K.Y., Zhuang,X., Kim,E. and Chung,J.
Journal J. Biol. Chem. 288 (8), 5660-5672 (2013)
Title Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons .
Author Rakovic,A., Shurkewitsch,K., Seibler,P., Grunewald,A., Zanon,A., Hagenah,J., Krainc,D. and Klein,C.
Journal J. Biol. Chem. 288 (4), 2223-2237 (2013)
Title PINK1 drives Parkin self-association and HECT-like E3 activity upstream of mitochondrial binding .
Author Lazarou,M., Narendra,D.P., Jin,S.M., Tekle,E., Banerjee,S. and Youle,R.J.
Journal J. Cell Biol. 200 (2), 163-172 (2013)
Title Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease .
Author Kilarski,L.L., Pearson,J.P., Newsway,V., Majounie,E., Knipe,M.D., Misbahuddin,A., Chinnery,P.F., Burn,D.J., Clarke,C.E., Marion,M.H., Lewthwaite,A.J., Nicholl,D.J., Wood,N.W., Morrison,K.E., Williams-Gray,C.H., Evans,J.R., Sawcer,S.J., Barker,R.A., Wickremaratchi,M.M., Ben-Shlomo,Y., Williams,N.M. and Morris,H.R.
Journal Mov. Disord. 27 (12), 1522-1529 (2012)
Title PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria .
Author Okatsu,K., Oka,T., Iguchi,M., Imamura,K., Kosako,H., Tani,N., Kimura,M., Go,E., Koyano,F., Funayama,M., Shiba-Fukushima,K., Sato,S., Shimizu,H., Fukunaga,Y., Taniguchi,H., Komatsu,M., Hattori,N., Mihara,K., Tanaka,K. and Matsuda,N.
Journal Nat Commun 3, 1016 (2012)
Title Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study .
Author Khan,N.L., Valente,E.M., Bentivoglio,A.R., Wood,N.W., Albanese,A., Brooks,D.J. and Piccini,P.
Journal Ann. Neurol. 52 (6), 849-853 (2002)
Title PARK6 is a common cause of familial parkinsonism .
Author Valente,E.M., Brancati,F., Caputo,V., Graham,E.A., Davis,M.B., Ferraris,A., Breteler,M.M., Gasser,T., Bonifati,V., Bentivoglio,A.R., De Michele,G., Durr,A., Cortelli,P., Filla,A., Meco,G., Oostra,B.A., Brice,A., Albanese,A., Dallapiccola,B. and Wood,N.W.
Journal Neurol. Sci. 23 (SUPPL 2), S117-S118 (2002)
Title Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7 .
Author Bonifati,V., Dekker,M.C., Vanacore,N., Fabbrini,G., Squitieri,F., Marconi,R., Antonini,A., Brustenghi,P., Dalla Libera,A., De Mari,M., Stocchi,F., Montagna,P., Gallai,V., Rizzu,P., van Swieten,J.C., Oostra,B., van Duijn,C.M., Meco,G. and Heutink,P.
Journal Neurol. Sci. 23 (SUPPL 2), S59-S60 (2002)
Title Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway .
Author Unoki,M. and Nakamura,Y.
Journal Oncogene 20 (33), 4457-4465 (2001)
Title Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 .
Author Valente,E.M., Bentivoglio,A.R., Dixon,P.H., Ferraris,A., Ialongo,T., Frontali,M., Albanese,A. and Wood,N.W.
Journal Am. J. Hum. Genet. 68 (4), 895-900 (2001)


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