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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2004-9-9
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Arabidopsis Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Complementary,
http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers,
http://linkedlifedata.com/resource/pubmed/chemical/Endopeptidases,
http://linkedlifedata.com/resource/pubmed/chemical/USP12 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Ubiquitin Thiolesterase,
http://linkedlifedata.com/resource/pubmed/chemical/Usp12 protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/ubiquitin-specific protease
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1042-5179
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
9-14
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pubmed:dateRevised |
2010-9-21
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pubmed:meshHeading |
pubmed-meshheading:15354349-Amino Acid Sequence,
pubmed-meshheading:15354349-Animals,
pubmed-meshheading:15354349-Arabidopsis Proteins,
pubmed-meshheading:15354349-Base Pairing,
pubmed-meshheading:15354349-Base Sequence,
pubmed-meshheading:15354349-Conserved Sequence,
pubmed-meshheading:15354349-DNA, Complementary,
pubmed-meshheading:15354349-DNA Primers,
pubmed-meshheading:15354349-Endopeptidases,
pubmed-meshheading:15354349-Gene Expression Regulation,
pubmed-meshheading:15354349-Genes, Recessive,
pubmed-meshheading:15354349-Humans,
pubmed-meshheading:15354349-Lung,
pubmed-meshheading:15354349-Male,
pubmed-meshheading:15354349-Mice,
pubmed-meshheading:15354349-Molecular Sequence Data,
pubmed-meshheading:15354349-Sequence Alignment,
pubmed-meshheading:15354349-Sequence Homology, Amino Acid,
pubmed-meshheading:15354349-Testis,
pubmed-meshheading:15354349-Tremor,
pubmed-meshheading:15354349-Ubiquitin Thiolesterase
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pubmed:year |
2004
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pubmed:articleTitle |
Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis.
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pubmed:affiliation |
Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida 32224, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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