PARK7
| Parkinson disease (autosomal recessive, early onset) 7 |
PDB rendering based on 1j42. |
| Available structures |
| PDB |
1J42, 1P5F, 1PDV, 1PDW, 1PE0, 1Q2U, 1SOA, 1UCF, 2OR3, 2R1T, 2R1U, 2R1V, 2RK3, 2RK4, 2RK6, 3B36, 3B38, 3B3A, 3BWE, 3CY6, 3CYF, 3CZ9, 3CZA, 3EZG, 3F71 |
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| Identifiers |
| Symbols |
PARK7; DJ-1; DJ1; FLJ27376; FLJ34360; FLJ92274 |
| External IDs |
OMIM: 602533 MGI: 2135637 HomoloGene: 38295 GeneCards: PARK7 Gene |
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| RNA expression pattern |
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| More reference expression data |
| Orthologs |
| Species |
Human |
Mouse |
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| Entrez |
11315 |
57320 |
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| Ensembl |
ENSG00000116288 |
ENSMUSG00000028964 |
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| UniProt |
Q99497 |
Q3THB9 |
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| RefSeq (mRNA) |
NM_001123377.1 |
NM_020569.3 |
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| RefSeq (protein) |
NP_001116849.1 |
NP_065594.2 |
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| Location (UCSC) |
Chr 1:
8.01 – 8.05 Mb |
Chr 4:
150.27 – 150.29 Mb |
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| PubMed search |
[1] |
[2] |
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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.
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][2]
Interactions
PARK7 has been shown to interact with EFCAB6[3] and Protein inhibitor of activated STAT2.[4]
See also
References
- ^ a b c "Entrez Gene: PARK7". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11315.
- ^ Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. (January 2003). "Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism". Science 299 (5604): 256–259. doi:10.1126/science.1077209. PMID 12446870.
- ^ 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. doi:10.1602/neurorx.1.2.235. PMC 534935. PMID 15717024. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=534935.
- Heutink P (2006). "PINK-1 and DJ-1--new genes for autosomal recessive Parkinson's disease". J. Neural Transm. Suppl.. Journal of Neural Transmission. Supplementa 70 (70): 215–9. doi:10.1007/978-3-211-45295-0_33. ISBN 978-3-211-28927-3. 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. PMC 1235491. PMID 11462174. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1235491.
- 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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.
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PDB gallery
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1j42: Crystal Structure of Human DJ-1
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1p5f: Crystal Structure of Human DJ-1
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1pdv: Crystal structure of human DJ-1, P 31 2 1 space group
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1pdw: Crystal structure of human DJ-1, P 1 21 1 space group
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1pe0: Crystal structure of the K130R mutant of human DJ-1
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1ps4: crystal structure of DJ-1
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1q2u: Crystal structure of DJ-1/RS and implication on familial Parkinson's disease
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1soa: Human DJ-1 with sulfinic acid
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1ucf: The Crystal Structure of DJ-1, a Protein Related to Male Fertility and Parkinson's Disease
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2or3: Pre-oxidation Complex of Human DJ-1
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.