Sequence in raw or FASTA format:
Homo sapiens Parkinson disease (autosomal recessive, early onset) 7 (PARK7), transcript variant 1, mRNA.
| RefSeq Version | NM_007262.4, 183227676 |
| Length | 979 bp |
| Structure | linear |
| Update Date | 17-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens Parkinson disease (autosomal recessive, early onset) 7 (PARK7), transcript variant 1, mRNA. |
| Product | protein DJ-1 |
| Comment | Summary: The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq]. Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein. |
| RefSeq | NP_009193.2 |
| CDS | 164..733 | Exon (1) | 1..140 | Exon (2) | 1..140 | Exon (3) | 141..253 | Exon (4) | 254..355 | Exon (5) | 356..415 | Exon (6) | 416..485 | Exon (7) | 486..572 | Exon (8) | 573..961 |
| Translation | MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLED
AKKEGPYDVVVLPGGNLGAQNLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFG
SKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIVEALNGKEVAAQ
VKAPLVLKD
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| Position | Chain | Variation | Link |
| 27 | + | a, g | dbSNP:17523802 |
| 65..66 | + | c, t | dbSNP:11548935 |
| 65 | + | c, t | dbSNP:226249 |
| 94 | + | c, t | dbSNP:11121064 |
| 142 | + | c, g | dbSNP:11548933 |
| 241 | + | a, g | dbSNP:74315351 |
| 278 | + | g, t | dbSNP:137853051 |
| 329 | + | a, g | dbSNP:114601558 |
| 355 | + | c, g | dbSNP:74315353 |
| 397 | + | c, t | dbSNP:11548937 |
| 398 | + | a, g | dbSNP:45601537 |
| 410..411 | + | , a | dbSNP:35566631 |
| 456 | + | a, g | dbSNP:71653619 |
| 491 | + | a, g | dbSNP:45577037 |
| 609 | + | a, c | dbSNP:74315352 |
| 629 | + | c, t | dbSNP:61772692 |
| 650 | + | a, g | dbSNP:74315354 |
| 660 | + | c, t | dbSNP:28938172 |
| 664 | + | a, g | dbSNP:71653621 |
| 698 | + | a, g | dbSNP:71653622 |
| 715 | + | a, c | dbSNP:3203837 |
| 817 | + | a, t | dbSNP:112196008 |
| 920 | + | c, t | dbSNP:1044766 |
| Gene Symbol | PARK7 |
| Gene Synonym | DJ-1; DJ1; FLJ27376; FLJ34360; FLJ92274 |
| Chromosome | 1 |
| Locus Map | 1p36.23 |
| All Transcripts | NM_007262 , NM_001123377 |
| Title | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 . |
| Author | Anderson,C.A., Boucher,G., Lees,C.W., Franke,A., D'Amato,M., Taylor,K.D., Lee,J.C., Goyette,P., Imielinski,M., Latiano,A., Lagace,C., Scott,R., Amininejad,L., Bumpstead,S., Baidoo,L., Baldassano,R.N., Barclay,M., Bayless,T.M., Brand,S., Buning,C., Colombel,J.F., Denson,L.A., De Vos,M., Dubinsky,M., Edwards,C., Ellinghaus,D., Fehrmann,R.S., Floyd,J.A., Florin,T., Franchimont,D., Franke,L., Georges,M., Glas,J., Glazer,N.L., Guthery,S.L., Haritunians,T., Hayward,N.K., Hugot,J.P., Jobin,G., Laukens,D., Lawrance,I., Lemann,M., Levine,A., Libioulle,C., Louis,E., McGovern,D.P., Milla,M., Montgomery,G.W., Morley,K.I., Mowat,C., Ng,A., Newman,W., Ophoff,R.A., Papi,L., Palmieri,O., Peyrin-Biroulet,L., Panes,J., Phillips,A., Prescott,N.J., Proctor,D.D., Roberts,R., Russell,R., Rutgeerts,P., Sanderson,J., Sans,M., Schumm,P., Seibold,F., Sharma,Y., Simms,L.A., Seielstad,M., Steinhart,A.H., Targan,S.R., van den Berg,L.H., Vatn,M., Verspaget,H., Walters,T., Wijmenga,C., Wilson,D.C., Westra,H.J., Xavier,R.J., Zhao,Z.Z., Ponsioen,C.Y., Andersen,V., Torkvist,L., Gazouli,M., Anagnou,N.P., Karlsen,T.H., Kupcinskas,L., Sventoraityte,J., Mansfield,J.C., Kugathasan,S., Silverberg,M.S., Halfvarson,J., Rotter,J.I., Mathew,C.G., Griffiths,A.M., Gearry,R., Ahmad,T., Brant,S.R., Chamaillard,M., Satsangi,J., Cho,J.H., Schreiber,S., Daly,M.J., Barrett,J.C., Parkes,M., Annese,V., Hakonarson,H., Radford-Smith,G., Duerr,R.H., Vermeire,S., Weersma,R.K. and Rioux,J.D. |
| Journal | Nat. Genet. 43 (3), 246-252 (2011) |
| Title | DJ-1 enhances cell survival through the binding of Cezanne, a negative regulator of NF-kappaB . |
| Author | McNally,R.S., Davis,B.K., Clements,C.M., Accavitti-Loper,M.A., Mak,T.W. and Ting,J.P. |
| Journal | J. Biol. Chem. 286 (6), 4098-4106 (2011) |
| Title | Human DJ-1-specific transcriptional activation of tyrosine hydroxylase gene . |
| Author | Ishikawa,S., Taira,T., Takahashi-Niki,K., Niki,T., Ariga,H. and Iguchi-Ariga,S.M. |
| Journal | J. Biol. Chem. 285 (51), 39718-39731 (2010) |
| Title | Increased DJ-1 and its prognostic significance in hepatocellular carcinoma . |
| Author | Liu,S., Yang,Z., Wei,H., Shen,W., Liu,J., Yin,Q., Li,X. and Yi,J. |
| Journal | Hepatogastroenterology 57 (102-103), 1247-1256 (2010) |
| Title | [DJ-1 expression in laryngeal squamous cell carcinoma and its relationship with tumor recurrence and metastasis] . |
| Author | Zhu,X.L., Wen,W.P., Lei,W.B., Chai,L.P., Hou,W.J., Wen,Y.H. and Wang,X.R. |
| Journal | Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 45 (6), 497-501 (2010) |
| Title | Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism . |
| Author | Bonifati,V., Rizzu,P., van Baren,M.J., Schaap,O., Breedveld,G.J., Krieger,E., Dekker,M.C., Squitieri,F., Ibanez,P., Joosse,M., van Dongen,J.W., Vanacore,N., van Swieten,J.C., Brice,A., Meco,G., van Duijn,C.M., Oostra,B.A. and Heutink,P. |
| Journal | Science 299 (5604), 256-259 (2003) |
| Title | DJ-1 positively regulates the androgen receptor by impairing the binding of PIASx alpha to the receptor . |
| Author | Takahashi,K., Taira,T., Niki,T., Seino,C., Iguchi-Ariga,S.M. and Ariga,H. |
| Journal | J. Biol. Chem. 276 (40), 37556-37563 (2001) |
| Title | Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36 . |
| Author | van Duijn,C.M., Dekker,M.C., Bonifati,V., Galjaard,R.J., Houwing-Duistermaat,J.J., Snijders,P.J., Testers,L., Breedveld,G.J., Horstink,M., Sandkuijl,L.A., van Swieten,J.C., Oostra,B.A. and Heutink,P. |
| Journal | Am. J. Hum. Genet. 69 (3), 629-634 (2001) |
| Title | Molecular cloning of human and mouse DJ-1 genes and identification of Sp1-dependent activation of the human DJ-1 promoter . |
| Author | Taira,T., Takahashi,K., Kitagawa,R., Iguchi-Ariga,S.M. and Ariga,H. |
| Journal | Gene 263 (1-2), 285-292 (2001) |
| Title | DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras . |
| Author | Nagakubo,D., Taira,T., Kitaura,H., Ikeda,M., Tamai,K., Iguchi-Ariga,S.M. and Ariga,H. |
| Journal | Biochem. Biophys. Res. Commun. 231 (2), 509-513 (1997) |
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