rdf:type |
|
lifeskim:mentions |
umls-concept:C0006556,
umls-concept:C0008633,
umls-concept:C0009015,
umls-concept:C0017337,
umls-concept:C0017428,
umls-concept:C0053511,
umls-concept:C0086418,
umls-concept:C0475264,
umls-concept:C0678594,
umls-concept:C0679058,
umls-concept:C1547699,
umls-concept:C2700640
|
pubmed:issue |
2-3
|
pubmed:dateCreated |
1999-12-8
|
pubmed:databankReference |
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF163312,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169550,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169551,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169552,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169553,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169554,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169555,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169556,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169557,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169558,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169559,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AF169560
|
pubmed:abstractText |
A full-length cDNA clone encoding human beta-ureidopropionase was isolated. A 1152-nucleotide open reading frame which corresponds to a protein of 384 amino acids with a calculated molecular weight of 43¿ omitted¿158 Da, surrounded by a 5'-untranslated region of 61 nucleotides and a 3'-untranslated region of 277 nucleotides was identified. The protein showed 91% similarity with the translation product of the rat beta-ureidopropionase cDNA. Expression of the human cDNA in an Escherichia coli and eukaryotic COS-7 expression system revealed a very high beta-ureidopropionase enzymatic activity, thus confirming the identity of the cDNA. Since human EST libraries from brain, liver, kidney and heart contained partial beta-ureidopropionase cDNAs, the enzyme seems to be expressed in these tissues, in agreement with the expression profile of this enzyme in rat. Using the human cDNA as a probe a genomic P1 clone could be isolated containing the complete human beta-ureidopropionase gene. The gene consist of 11 exons spanning approximately 20 kB of genomic DNA. Fluorescence in situ hydridization localized the human beta-ureidopropionase gene to 22q11.2.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Oct
|
pubmed:issn |
0006-3002
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:day |
28
|
pubmed:volume |
1447
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
251-7
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:10542323-Amidohydrolases,
pubmed-meshheading:10542323-Amino Acid Sequence,
pubmed-meshheading:10542323-Animals,
pubmed-meshheading:10542323-Base Sequence,
pubmed-meshheading:10542323-COS Cells,
pubmed-meshheading:10542323-Chromosome Mapping,
pubmed-meshheading:10542323-Chromosomes, Human, Pair 22,
pubmed-meshheading:10542323-Cloning, Molecular,
pubmed-meshheading:10542323-DNA, Complementary,
pubmed-meshheading:10542323-Escherichia coli,
pubmed-meshheading:10542323-Gene Expression,
pubmed-meshheading:10542323-Humans,
pubmed-meshheading:10542323-Molecular Sequence Data,
pubmed-meshheading:10542323-Rats,
pubmed-meshheading:10542323-Sequence Alignment
|
pubmed:year |
1999
|
pubmed:articleTitle |
cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase.
|
pubmed:affiliation |
Academic Medical Center, Departments of Clinical Chemistry and Division Emma Children's Hospital, Amsterdam, Netherlands. p.vreken@amc.uva.nl
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pubmed:publicationType |
Journal Article
|