title: Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis.
abstract: Parkinson's disease (PD) is a common neurodegenerative disorder with clinical features of bradykinesia, rigidity and resting tremor resulting from the deficiency of dopamine in the nigrostriatal system. Recently, PARK6 was identified as a novel locus associated with autosomal recessive PD. Here we report the identification and characterization of a novel human deubiquitylating gene (USP31), which maps to the critical PARK6 region. Database analysis and 5' RACE identified a 4070bp cDNA, encoded by 27 exons spanning approximately 105kbp of genomic sequence. The predicted protein of 1035 amino acids included a conserved ubiquitin hydrolase region (Prosite profile PS50235), a DUSP (domain in ubiquitin specific proteases-Smart00695) and a ubiquitin-like domain (Prosite pattern PS00299). Northern blot analysis revealed a single USP31 transcript of approximately 4 kb, which was primarily expressed in the testis and lung.
authors.affiliation: Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida 32224, USA.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Lockhart
authors.forename: Mary
authors.initials: M
authors.lastname: Hulihan
authors.forename: Sarah
authors.initials: S
authors.lastname: Lincoln
authors.forename: Jennifer
authors.initials: J
authors.lastname: Hussey
authors.forename: Lisa
authors.initials: L
authors.lastname: Skipper
authors.forename: Gina
authors.initials: G
authors.lastname: Bisceglio
authors.forename: Kristen
authors.initials: K
authors.lastname: Wilkes
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D029681:Arabidopsis Proteins / Q000737:chemistry / Q000235:genetics; D020029:Base Pairing; D001483:Base Sequence; D017124:Conserved Sequence; D017931:DNA Primers; D018076:DNA, Complementary / Q000737:chemistry; D010450:Endopeptidases / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005786:Gene Expression Regulation / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D008168:Lung / Q000201:enzymology; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013737:Testis / Q000201:enzymology; D014202:Tremor / Q000235:genetics; D043222:Ubiquitin Thiolesterase; D064570:Ubiquitin-Specific Proteases
chemical_list: D029681:Arabidopsis Proteins; D017931:DNA Primers; D018076:DNA, Complementary; C486402:USP12 protein, human; D010450:Endopeptidases; C579220:USP31 protein, human; D043222:Ubiquitin Thiolesterase; D064570:Ubiquitin-Specific Proteases; C486401:Usp12 protein, mouse