PARK7

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Parkinson protein 7
Protein PARK7 PDB 1j42.png
PDB rendering based on 1j42 [1].
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PARK7 ; DJ-1; DJ1; HEL-S-67p
External IDs OMIM602533 MGI2135637 HomoloGene38295 GeneCards: PARK7 Gene
RNA expression pattern
PBB GE PARK7 200007 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 11315 57320
Ensembl ENSG00000116288 ENSMUSG00000028964
UniProt Q99497 Q99LX0
RefSeq (mRNA) NM_001123377 NM_020569
RefSeq (protein) NP_001116849 NP_065594
Location (UCSC) Chr 1:
8.01 – 8.05 Mb
Chr 4:
150.9 – 150.91 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.[2] It is also known as DJ-1.

Function[edit]

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.[2]

Clinical significance[edit]

Defects in this gene are the cause of autosomal recessive early-onset Parkinson's disease 7.[2][3]

Interactions[edit]

PARK7 has been shown to interact with:

See also[edit]

References[edit]

  1. ^ Lee, S. J.; Kim, S. J.; Kim, I. K.; Ko, J.; Jeong, C. S.; Kim, G. H.; Park, C.; Kang, S. O.; Suh, P. G. (2003). "Crystal Structures of Human DJ-1 and Escherichia coli Hsp31, Which Share an Evolutionarily Conserved Domain". Journal of Biological Chemistry 278 (45): 44552–44559. doi:10.1074/jbc.M304517200. PMID 12939276.  edit
  2. ^ a b c "Entrez Gene: PARK7". 
  3. ^ 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. 
  4. ^ Mukherjee K, Slawson JB, Christmann BL, Griffith LC (2014). "Neuron-specific protein interactions of Drosophila CASK-β are revealed by mass spectrometry". Front Mol Neurosci 7: 58. doi:10.3389/fnmol.2014.00058. PMC 4075472. PMID 25071438. 
  5. ^ Niki T, Takahashi-Niki K, Taira T, Iguchi-Ariga SM, Ariga H (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. 1 (4): 247–61. PMID 12612053. 
  6. ^ Takahashi K, Taira T, Niki T, Seino C, Iguchi-Ariga SM, Ariga H (Oct 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. 

Further reading[edit]

  • 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. 
  • 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, Ickowicz D, Melamed E, Offen D (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, Ikeda M, Tamai K, Iguchi-Ariga SM, Ariga H (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, Iguchi-Ariga SM, Ariga H (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, Galjaard RJ, Houwing-Duistermaat JJ, Snijders PJ, Testers L, Breedveld GJ, Horstink M, Sandkuijl LA, van Swieten JC, Oostra BA, Heutink P (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. 
  • Takahashi K, Taira T, Niki T, Seino C, Iguchi-Ariga SM, Ariga H (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, 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 (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. 
  • Bonifati V, Dekker MC, Vanacore N, Fabbrini G, Squitieri F, Marconi R, Antonini A, Brustenghi P, Dalla Libera A, De Mari M, Stocchi F, Montagna P, Gallai V, Rizzu P, van Swieten JC, Oostra B, van Duijn CM, Meco G, Heutink P (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, Iguchi-Ariga SM, Ariga H (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, Niki T, Taira T, Ariga H, Inagaki F (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, Leenders N, Galjaard RJ, Snijders P, Horstink M, Heutink P, Oostra B, van Duijn C (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, Baptista MJ, Canet-Aviles R, McLendon C, Carter DM, Zhu PP, Stadler J, Chandran J, Klinefelter GR, Blackstone C, Cookson MR (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. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.