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edit Parkinson disease (autosomal recessive, early onset) 7 PDB rendering based on 1j42. Available structures PDB 1j42, 1p5f, 1pdv, 1pdw, 1pe0, 1ps4, 1q2u, 1soa, 1ucf, 2or3 Identifiers Symbols PARK7; DJ-1; DJ1; FLJ27376 External IDs OMIM: 602533 MGI: 2135637 HomoloGene: 38295 GeneCards: PARK7 Gene Gene Ontology Molecular function • protein binding Cellular component • nucleus • cytoplasm Biological process • protein folding • Ras protein signal transduction • adult locomotory behavior • response to hydrogen peroxide • dopamine uptake Sources: Amigo / QuickGO RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 11315 57320 Ensembl ENSG00000116288 ENSMUSG00000028964 UniProt Q99497 Q3THB9 RefSeq (mRNA) NM_007262 NM_020569 RefSeq (protein) NP_009193 NP_065594 Location (UCSC) Chr 1: 7.94 - 7.97 Mb Chr 4: 149.74 - 149.75 Mb PubMed search [1] [2] Parkinson disease (autosomal recessive, early onset) 7, also known as PARK7, is a protein which in humans is encoded by the PARK7 gene.[1] It is also known as DJ-1. Contents 1 Function 2 Clinical significance 3 Interactions 4 See also 5 References 6 Further reading // Function PARK7 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.[1] Clinical significance Defects in this gene are the cause of autosomal recessive early-onset Parkinson's disease 7.[1] Interactions PARK7 has been shown to interact with EFCAB6[2] and Protein inhibitor of activated STAT2.[3] See also Parkinson's disease References ^ a b c "Entrez Gene: PARK7". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11315.  ^ Niki, Takeshi; Takahashi-Niki Kazuko, Taira Takahiro, Iguchi-Ariga Sanae M M, Ariga Hiroyoshi (Feb. 2003). "DJBP: a novel DJ-1-binding protein, negatively regulates the androgen receptor by recruiting histone deacetylase complex, and DJ-1 antagonizes this inhibition by abrogation of this complex". Mol. Cancer Res. (United States) 1 (4): 247–61. ISSN 1541-7786. PMID 12612053.  ^ Takahashi, K; Taira T, Niki T, Seino C, Iguchi-Ariga S M, Ariga H (Oct. 2001). "DJ-1 positively regulates the androgen receptor by impairing the binding of PIASx alpha to the receptor". J. Biol. Chem. (United States) 276 (40): 37556–63. doi:10.1074/jbc.M101730200. ISSN 0021-9258. PMID 11477070.  Further reading Cookson MR (2003). "Pathways to Parkinsonism.". Neuron 37 (1): 7–10. doi:10.1016/S0896-6273(02)01166-2. PMID 12526767.  Bonifati V, Oostra BA, Heutink P (2004). "Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease.". J. Mol. Med. 82 (3): 163–74. doi:10.1007/s00109-003-0512-1. PMID 14712351.  Le W, Appel SH (2004). "Mutant genes responsible for Parkinson's disease.". Current opinion in pharmacology 4 (1): 79–84. doi:10.1016/j.coph.2003.09.005. PMID 15018843.  Abou-Sleiman PM, Healy DG, Wood NW (2005). "Causes of Parkinson's disease: genetics of DJ-1.". Cell Tissue Res. 318 (1): 185–8. doi:10.1007/s00441-004-0922-6. PMID 15503154.  Pankratz N, Foroud T (2005). "Genetics of Parkinson disease.". NeuroRx : the journal of the American Society for Experimental NeuroTherapeutics 1 (2): 235–42. PMID 15717024.  Heutink P (2006). "PINK-1 and DJ-1--new genes for autosomal recessive Parkinson's disease.". J. Neural Transm. Suppl. 70 (70): 215–9. doi:10.1007/978-3-211-45295-0_33. PMID 17017532.  Lev N, Roncevic D, Roncevich D, et al. (2007). "Role of DJ-1 in Parkinson's disease.". J. Mol. Neurosci. 29 (3): 215–25. doi:10.1385/JMN:29:3:215. PMID 17085780.  Nagakubo D, Taira T, Kitaura H, et al. (1997). "DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras.". Biochem. Biophys. Res. Commun. 231 (2): 509–13. doi:10.1006/bbrc.1997.6132. PMID 9070310.  Taira T, Takahashi K, Kitagawa R, et al. (2001). "Molecular cloning of human and mouse DJ-1 genes and identification of Sp1-dependent activation of the human DJ-1 promoter.". Gene 263 (1-2): 285–92. doi:10.1016/S0378-1119(00)00590-4. PMID 11223268.  van Duijn CM, Dekker MC, Bonifati V, et al. (2001). "Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.". Am. J. Hum. Genet. 69 (3): 629–34. doi:10.1086/322996. PMID 11462174.  Takahashi K, Taira T, Niki T, et al. (2001). "DJ-1 positively regulates the androgen receptor by impairing the binding of PIASx alpha to the receptor.". J. Biol. Chem. 276 (40): 37556–63. doi:10.1074/jbc.M101730200. PMID 11477070.  Bonifati V, Rizzu P, van Baren MJ, et al. (2003). "Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.". Science 299 (5604): 256–9. doi:10.1126/science.1077209. PMID 12446870.  Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  Bonifati V, Dekker MC, Vanacore N, et al. (2003). "Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.". Neurol. Sci. 23 Suppl 2: S59–60. doi:10.1007/s100720200069. PMID 12548343.  Niki T, Takahashi-Niki K, Taira T, et al. (2004). "DJBP: a novel DJ-1-binding protein, negatively regulates the androgen receptor by recruiting histone deacetylase complex, and DJ-1 antagonizes this inhibition by abrogation of this complex.". Mol. Cancer Res. 1 (4): 247–61. PMID 12612053.  Tao X, Tong L (2003). "Crystal structure of human DJ-1, a protein associated with early onset Parkinson's disease.". J. Biol. Chem. 278 (33): 31372–9. doi:10.1074/jbc.M304221200. PMID 12761214.  Honbou K, Suzuki NN, Horiuchi M, et al. (2003). "The crystal structure of DJ-1, a protein related to male fertility and Parkinson's disease.". J. Biol. Chem. 278 (33): 31380–4. doi:10.1074/jbc.M305878200. PMID 12796482.  Dekker M, Bonifati V, van Swieten J, et al. (2004). "Clinical features and neuroimaging of PARK7-linked parkinsonism.". Mov. Disord. 18 (7): 751–7. doi:10.1002/mds.10422. PMID 12815653.  Miller DW, Ahmad R, Hague S, et al. (2003). "L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system.". J. Biol. Chem. 278 (38): 36588–95. doi:10.1074/jbc.M304272200. PMID 12851414.  v • d • e PDB Gallery 1j42: Crystal Structure of Human DJ-1   1p5f: Crystal Structure of Human DJ-1   1pdv: Crystal structure of human DJ-1, P 31 2 1 space group   1pdw: Crystal structure of human DJ-1, P 1 21 1 space group   1pe0: Crystal structure of the K130R mutant of human DJ-1   1ps4: crystal structure of DJ-1   1q2u: Crystal structure of DJ-1/RS and implication on familial Parkinson's disease   1soa: Human DJ-1 with sulfinic acid   1ucf: The Crystal Structure of DJ-1, a Protein Related to Male Fertility and Parkinson's Disease   2or3: Pre-oxidation Complex of Human DJ-1   This article incorporates text from the United States National Library of Medicine, which is in the public domain. This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it. v • d • e