Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.
| RefSeq Version | NM_004562.2, 169790968 |
| Length | 4073 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA. |
| Product | E3 ubiquitin-protein ligase parkin isoform 1 |
| 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]. Transcript Variant: Transcript variant 1 represents the predominant and full-length form of this gene. 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_004553.2 |
| CDS | 135..1532 | Exon (1) | 1..141 | Exon (2) | 1..141 | Exon (3) | 142..305 | Exon (4) | 306..546 | Exon (5) | 547..668 | Exon (6) | 669..752 | Exon (7) | 753..868 | Exon (8) | 869..1005 | Exon (9) | 1006..1067 | Exon (10) | 1068..1217 | Exon (11) | 1218..1301 | Exon (12) | 1302..1419 | Exon (13) | 1420..4073 |
| Translation | MIVFVRFNSSHGFPVEVDSDTSIFQLKEVVAKRQGVPADQLRVIFAGKELRNDWTVQNCD
LDQQSIVHIVQRPWRKGQEMNATGGDDPRNAAGGCEREPQSLTRVDLSSSVLPGDSVGLA
VILHTDSRKDSPPAGSPAGRSIYNSFYVYCKGPCQRVQPGKLRVQCSTCRQATLTLTQGP
SCWDDVLIPNRMSGECQSPHCPGTSAEFFFKCGAHPTSDKETSVALHLIATNSRNITCIT
CTDVRSPVLVFQCNSRHVICLDCFHLYCVTRLNDRQFVHDPQLGYSLPCVAGCPNSLIKE
LHHFRILGEEQYNRYQQYGAEECVLQMGGVLCPRPGCGAGLLPEPDQRKVTCEGGNGLGC
GFAFCRECKEAYHEGECSAVFEASGTTTQAYRVDERAAEQARWEAASKETIKKTTKPCPR
CHVPVEKNGGCMHMKCPQPQCRLEWCWNCGCEWNRVCMGDHWFDV
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| Position | Chain | Variation | Link |
| 70 | + | c, t | dbSNP:112155221 |
| 93 | + | c, t | dbSNP:112850281 |
| complement(159) | - | g, a | dbSNP:111356273 |
| 235 | + | , ag | dbSNP:55777503 |
| complement(245) | - | t, c | dbSNP:77795533 |
| complement(270) | - | t, c | dbSNP:75860381 |
| 301 | + | a, t | dbSNP:137853059 |
| 379 | + | a, c | dbSNP:55774500 |
| 592 | + | c, g | dbSNP:55654276 |
| 617 | + | a, t | dbSNP:137853057 |
| 634 | + | a, g | dbSNP:1801474 |
| 669 | + | a, g | dbSNP:56274447 |
| complement(708) | - | t, g | dbSNP:9456735 |
| 734 | + | c, g | dbSNP:72480421 |
| 767 | + | a, t | dbSNP:137853060 |
| 769 | + | a, g | dbSNP:137853058 |
| complement(848) | - | g, a | dbSNP:114974496 |
| 853 | + | c, g, t | dbSNP:137853054 |
| complement(917) | - | t, c | dbSNP:9456711 |
| complement(933) | - | g, a | dbSNP:114696251 |
| 957 | + | c, t | dbSNP:34424986 |
| 972 | + | a, g | dbSNP:72480422 |
| 982 | + | c, t | dbSNP:56154308 |
| 999 | + | g, t | dbSNP:55961220 |
| 1064 | + | c, g | dbSNP:72480423 |
| 1065 | + | c, t | dbSNP:137853055 |
| 1230 | + | c, t | dbSNP:56092260 |
| 1272 | + | c, g | dbSNP:1801582 |
| 1314 | + | a, g | dbSNP:1801334 |
| 1338 | + | c, t | dbSNP:55830907 |
| complement(1488) | - | g, c | dbSNP:77002325 |
| 1492 | + | a, g | dbSNP:137853056 |
| 1534 | + | a, c | dbSNP:112022904 |
| 1547 | + | a, c | dbSNP:35125035 |
| complement(1548) | - | t, c | dbSNP:61730194 |
| complement(1626) | - | t, c | dbSNP:62637702 |
| 1852 | + | a, c | dbSNP:71653628 |
| 2060 | + | a, t | dbSNP:112757570 |
| 2184 | + | c, t | dbSNP:71653629 |
| complement(2352) | - | t, a | dbSNP:74701717 |
| 2418..2421 | + | , agat | dbSNP:113233227 |
| 2419..2422 | + | , gata | dbSNP:71653631 |
| complement(2784) | - | g, a | dbSNP:77926621 |
| complement(2828) | - | t, c | dbSNP:3734464 |
| complement(2939) | - | g, a | dbSNP:11961237 |
| complement(2994) | - | t, g | dbSNP:112125676 |
| complement(2994) | - | , t, g | dbSNP:11961229 |
| complement(3213) | - | g, a | dbSNP:41268559 |
| complement(3226) | - | g, a | dbSNP:16892481 |
| complement(3227) | - | t, c | dbSNP:77283740 |
| complement(3350) | - | t, c | dbSNP:114587790 |
| complement(3529) | - | t, c | dbSNP:75529362 |
| complement(3553) | - | t, c | dbSNP:1122470 |
| complement(3719) | - | g, a | dbSNP:116309008 |
| complement(3820..3821) | - | , g | dbSNP:35851380 |
| complement(3895) | - | g, a | dbSNP:12215447 |
| complement(3962) | - | t, g | dbSNP:12215397 |
| complement(4012) | - | t, g | dbSNP:68121389 |
| complement(4018) | - | t, g | dbSNP:116102244 |
| complement(4024) | - | t, c | dbSNP:117341007 |
| complement(4050) | - | t, c | dbSNP:16892479 |
| Gene Symbol | PARK2 |
| Gene Synonym | AR-JP; LPRS2; PDJ; PRKN |
| Chromosome | 6 |
| Locus Map | 6q25.2-q27 |
| All Transcripts | NM_004562 , NM_013987 , NM_013988 |
| Title | Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study . |
| Author | Alcalay,R.N., Siderowf,A., Ottman,R., Caccappolo,E., Mejia-Santana,H., Tang,M.X., Rosado,L., Louis,E., Ruiz,D., Waters,C., Fahn,S., Cote,L., Frucht,S., Ford,B., Orbe-Reilly,M., Ross,B., Verbitsky,M., Kisselev,S., Comella,C., Colcher,A., Jennings,D., Nance,M., Bressman,S., Scott,W.K., Tanner,C., Mickel,S., Rezak,M., Novak,K.E., Friedman,J.H., Pfeiffer,R., Marsh,L., Hiner,B., Clark,L.N. and Marder,K. |
| Journal | Neurology 76 (4), 319-326 (2011) |
| Title | Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin . |
| Author | Tanaka,A., Cleland,M.M., Xu,S., Narendra,D.P., Suen,D.F., Karbowski,M. and Youle,R.J. |
| Journal | J. Cell Biol. 191 (7), 1367-1380 (2010) |
| Title | Parkin mono-ubiquitinates Bcl-2 and regulates autophagy . |
| Author | Chen,D., Gao,F., Li,B., Wang,H., Xu,Y., Zhu,C. and Wang,G. |
| Journal | J. Biol. Chem. 285 (49), 38214-38223 (2010) |
| Title | p62/SQSTM1 is required for Parkin-induced mitochondrial clustering but not mitophagy; VDAC1 is dispensable for both . |
| Author | Narendra,D., Kane,L.A., Hauser,D.N., Fearnley,I.M. and Youle,R.J. |
| Journal | Autophagy 6 (8), 1090-1106 (2010) |
| Title | Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts . |
| Author | Grunewald,A., Voges,L., Rakovic,A., Kasten,M., Vandebona,H., Hemmelmann,C., Lohmann,K., Orolicki,S., Ramirez,A., Schapira,A.H., Pramstaller,P.P., Sue,C.M. and Klein,C. |
| Journal | PLoS ONE 5 (9), E12962 (2010) |
| 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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