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Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 3, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_013988 Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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RefSeq Version NM_013988.2, 169790972
Length 3626 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 3, mRNA.
Product E3 ubiquitin-protein ligase parkin isoform 3
Comment

Summary: The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008].


Transcript Variant: Transcript variant 3 lacks exons 3 to 5 present in the full-length transcript variant 1.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

RefSeq NP_054643.2
CDS 135..1085
Misc Feature(1)6..8
Misc Feature(2)6..8
Misc Feature(3)141..380
Misc Feature(4)141..380
Misc Feature(5)171..>308
Misc Feature(6)258..260
Misc Feature(7)624..812
Misc Feature(8)<681..812
Misc Feature(9)<921..1046
Exon (1)1..141
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (2)142..305
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (3)306..421
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (4)422..558
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (5)559..620
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (6)621..770
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (7)771..854
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (8)855..972
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Exon (9)973..3626
Gene:PARK2
Gene Synonym:AR-JP; LPRS2; PDJ; PRKN
Translation MIVFVRFNSSHGFPVEVDSDTSIFQLKEVVAKRQGVPADQLRVIFAGKELRNDWTVQEFF FKCGAHPTSDKETSVALHLIATNSRNITCITCTDVRSPVLVFQCNSRHVICLDCFHLYCV TRLNDRQFVHDPQLGYSLPCVAGCPNSLIKELHHFRILGEEQYNRYQQYGAEECVLQMGG VLCPRPGCGAGLLPEPDQRKVTCEGGNGLGCGFAFCRECKEAYHEGECSAVFEASGTTTQ AYRVDERAAEQARWEAASKETIKKTTKPCPRCHVPVEKNGGCMHMKCPQPQCRLEWCWNC GCEWNRVCMGDHWFDV
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Position Chain Variation Link
complement(70)-t, cdbSNP:112155221
complement(93)-t, cdbSNP:112850281
complement(105)-g, adbSNP:200065081
complement(118)-g, adbSNP:200039995
complement(159)-dbSNP:
complement(159)-g, adbSNP:111356273
complement(181)-t, gdbSNP:199841689
complement(182)-t, cdbSNP:143477190
complement(185)-g, adbSNP:148302761
complement(186)-t, cdbSNP:146288080
complement(202)-g, adbSNP:199859147
complement(217)-t, cdbSNP:200805156
complement(229)-t, gdbSNP:142642396
complement(232)-t, cdbSNP:147757966
complement(235)-t, cdbSNP:148851677
complement(235)-, agdbSNP:55777503
complement(244)-g, adbSNP:148990138
complement(245)-t, cdbSNP:77795533
complement(269)-g, adbSNP:149699346
complement(270)-t, cdbSNP:75860381
complement(281)-t, cdbSNP:199762783
complement(300)-t, cdbSNP:145942836
complement(301)-t, adbSNP:137853059
complement(320)-dbSNP:
complement(320)-t, adbSNP:137853060
complement(322)-g, adbSNP:137853058
complement(360)-c, adbSNP:202212928
complement(388)-t, cdbSNP:144032774
complement(401)-g, adbSNP:114974496
complement(406)-t, g, cdbSNP:137853054
complement(414)-t, cdbSNP:146173584
complement(428)-dbSNP:
complement(428)-g, adbSNP:149749354
complement(448)-t, cdbSNP:139600787
complement(453)-g, adbSNP:150562946
complement(470)-t, cdbSNP:9456711
complement(480)-g, adbSNP:148453342
complement(486)-g, adbSNP:114696251
complement(488)-g, adbSNP:199790441
complement(490)-t, cdbSNP:200720727
complement(501)-t, gdbSNP:141366047
complement(503)-g, adbSNP:143902760
complement(510)-t, cdbSNP:34424986
complement(523)-t, cdbSNP:147028059
complement(524)-g, adbSNP:149433924
complement(525)-g, adbSNP:72480422
complement(535)-t, cdbSNP:56154308
complement(552)-t, gdbSNP:55961220
complement(606)-dbSNP:
complement(606)-g, adbSNP:138920699
complement(617)-g, cdbSNP:72480423
complement(618)-t, cdbSNP:137853055
complement(644)-dbSNP:
complement(644)-g, adbSNP:144340740
complement(667)-g, adbSNP:141061596
complement(687)-g, adbSNP:199657839
complement(748)-t, cdbSNP:146599326
complement(763)-t, cdbSNP:201300874
complement(783)-dbSNP:
complement(783)-t, cdbSNP:56092260
complement(825)-g, cdbSNP:1801582
complement(849)-t, cdbSNP:146668184
complement(867)-dbSNP:
complement(867)-g, adbSNP:1801334
complement(891)-t, cdbSNP:55830907
complement(938)-g, adbSNP:189941210
complement(945)-g, adbSNP:145135117
complement(976)-dbSNP:
complement(976)-g, adbSNP:191486604
complement(997)-g, adbSNP:149953814
complement(1045)-g, adbSNP:137853056
complement(1059)-t, gdbSNP:182893847
complement(1087)-c, adbSNP:112022904
complement(1100)-c, adbSNP:35125035
complement(1101)-t, cdbSNP:61730194
complement(1134)-t, cdbSNP:200940812
complement(1179)-t, cdbSNP:62637702
complement(1405)-c, adbSNP:71653628
complement(1613)-t, adbSNP:112757570
complement(1693)-t, cdbSNP:188421588
complement(1737)-t, cdbSNP:71653629
complement(1905)-t, adbSNP:74701717
complement(1971..1974)-, agatdbSNP:113233227
complement(1972..1975)-, gatadbSNP:71653631
complement(2294..2295)-, adbSNP:200695402
complement(2337)-g, adbSNP:77926621
complement(2381)-t, cdbSNP:3734464
complement(2432)-t, cdbSNP:182568156
complement(2442)-t, gdbSNP:191142442
complement(2450)-t, cdbSNP:143810946
complement(2471)-t, cdbSNP:140107485
complement(2492)-g, adbSNP:11961237
complement(2547)-t, gdbSNP:11961229
complement(2766)-g, adbSNP:41268559
complement(2770)-t, cdbSNP:187134044
complement(2779)-g, adbSNP:16892481
complement(2780)-t, cdbSNP:77283740
complement(2834)-t, cdbSNP:182252890
complement(2903)-t, cdbSNP:114587790
complement(2994)-t, cdbSNP:148426411
complement(3042)-g, adbSNP:144460207
complement(3082)-t, cdbSNP:75529362
complement(3106)-t, cdbSNP:1122470
complement(3272)-g, adbSNP:116309008
complement(3279)-t, cdbSNP:149239597
complement(3302)-t, cdbSNP:138660139
complement(3372..3373)-, cggdbSNP:200780698
complement(3376..3377)-, gdbSNP:35851380
complement(3439)-g, adbSNP:191130749
complement(3448)-g, adbSNP:12215447
complement(3475)-c, adbSNP:185919757
complement(3477)-t, cdbSNP:200119552
complement(3515)-t, gdbSNP:12215397
complement(3565)-t, gdbSNP:68121389
complement(3577)-t, cdbSNP:117341007
complement(3602)-g, adbSNP:147210030
complement(3603)-t, cdbSNP:16892479
Gene SymbolPARK2
Gene SynonymAR-JP; LPRS2; PDJ; PRKN
Chromosome6
Locus Map6q25.2-q27
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004562 Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA. On-demand $699.00 18
NM_013987 Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 2, mRNA. On-demand $699.00 18
NM_013988 Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 3, mRNA. On-demand $549.00 14
Title Parkin ubiquitinates Tar-DNA binding protein-43 (TDP-43) and promotes its cytosolic accumulation via interaction with histone deacetylase 6 (HDAC6) .
Author Hebron,M.L., Lonskaya,I., Sharpe,K., Weerasinghe,P.P., Algarzae,N.K., Shekoyan,A.R. and Moussa,C.E.
Journal J. Biol. Chem. 288 (6), 4103-4115 (2013)
Title ATF4 protects against neuronal death in cellular Parkinson's disease models by maintaining levels of parkin .
Author Sun,X., Liu,J., Crary,J.F., Malagelada,C., Sulzer,D., Greene,L.A. and Levy,O.A.
Journal J. Neurosci. 33 (6), 2398-2407 (2013)
Title Declines in Drp1 and parkin expression underlie DNA damage-induced changes in mitochondrial length and neuronal death .
Author Wang,D.B., Garden,G.A., Kinoshita,C., Wyles,C., Babazadeh,N., Sopher,B., Kinoshita,Y. and Morrison,R.S.
Journal J. Neurosci. 33 (4), 1357-1365 (2013)
Title Voltage-dependent anion channels (VDACs) recruit Parkin to defective mitochondria to promote mitochondrial autophagy .
Author Sun,Y., Vashisht,A.A., Tchieu,J., Wohlschlegel,J.A. and Dreier,L.
Journal J. Biol. Chem. 287 (48), 40652-40660 (2012)
Title Mitochondrial hexokinase HKI is a novel substrate of the Parkin ubiquitin ligase .
Author Okatsu,K., Iemura,S., Koyano,F., Go,E., Kimura,M., Natsume,T., Tanaka,K. and Matsuda,N.
Journal Biochem. Biophys. Res. Commun. 428 (1), 197-202 (2012)
Title Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease .
Author Tassin,J., Durr,A., de Broucker,T., Abbas,N., Bonifati,V., De Michele,G., Bonnet,A.M., Broussolle,E., Pollak,P., Vidailhet,M., De Mari,M., Marconi,R., Medjbeur,S., Filla,A., Meco,G., Agid,Y. and Brice,A.
Journal Am. J. Hum. Genet. 63 (1), 88-94 (1998)
Title Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism .
Author Kitada,T., Asakawa,S., Hattori,N., Matsumine,H., Yamamura,Y., Minoshima,S., Yokochi,M., Mizuno,Y. and Shimizu,N.
Journal Nature 392 (6676), 605-608 (1998)
Title A microdeletion of D6S305 in a family of autosomal recessive juvenile parkinsonism (PARK2) .
Author Matsumine,H., Yamamura,Y., Hattori,N., Kobayashi,T., Kitada,T., Yoritaka,A. and Mizuno,Y.
Journal Genomics 49 (1), 143-146 (1998)
Title Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27 .
Author Matsumine,H., Saito,M., Shimoda-Matsubayashi,S., Tanaka,H., Ishikawa,A., Nakagawa-Hattori,Y., Yokochi,M., Kobayashi,T., Igarashi,S., Takano,H., Sanpei,K., Koike,R., Mori,H., Kondo,T., Mizutani,Y., Schaffer,A.A., Yamamura,Y., Nakamura,S., Kuzuhara,S., Tsuji,S. and Mizuno,Y.
Journal Am. J. Hum. Genet. 60 (3), 588-596 (1997)
Title [Clinical characteristics and linkage analysis of autosomal recessive form of juvenile parkinsonism(AR-JP)] .
Author Saito,M., Matsumine,H., Tanaka,H., Ishikawa,A., Matsubayashi,S., Hattori,Y., Mizuno,Y. and Tsuji,S.
Journal Nippon Rinsho 55 (1), 83-88 (1997)


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