Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis

DNA Seq. 2004 Feb;15(1):9-14. doi: 10.1080/10855660310001638197.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Arabidopsis Proteins / chemistry
  • Arabidopsis Proteins / genetics
  • Base Pairing
  • Base Sequence
  • Conserved Sequence
  • DNA Primers
  • DNA, Complementary / chemistry
  • Endopeptidases / chemistry
  • Endopeptidases / genetics*
  • Endopeptidases / metabolism
  • Gene Expression Regulation / genetics*
  • Genes, Recessive
  • Humans
  • Lung / enzymology
  • Male
  • Mice
  • Molecular Sequence Data
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Testis / enzymology
  • Tremor / genetics
  • Ubiquitin Thiolesterase
  • Ubiquitin-Specific Proteases


  • Arabidopsis Proteins
  • DNA Primers
  • DNA, Complementary
  • USP12 protein, human
  • Endopeptidases
  • USP31 protein, human
  • Ubiquitin Thiolesterase
  • Ubiquitin-Specific Proteases
  • Usp12 protein, mouse