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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1997-11-17
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pubmed:databankReference | |
pubmed:abstractText |
The 25-hydroxyvitamin D3 1 alpha-hydroxylase (1 alpha-hydroxylase) is a cytochrome P450 enzyme that catalyzes the conversion of 25-hydroxyvitamin D3 to 1 alpha,25-dihydroxyvitamin D3. This enzyme plays an important role in calcium homeostasis. Here we report the molecular cloning of cDNA and gene for human 1 alpha-hydroxylase. The cDNA clone was obtained from a human kidney cDNA library by cross-hybridization with a previously cloned rat cDNA probe. The cDNA consists of 2469 bp and encodes a protein of 508 amino acids that shows 82.5% sequence identity with the rat enzyme. A computer-aided homology search revealed that 1 alpha-hydroxylase shares a relatively high homology with vitamin D3 25-hydroxylase (about 40% amino acid identity). Northern blot analysis showed that the 2.5-kb mRNA is most abundant in kidney. The gene for human 1 alpha-hydroxylase spans approximately 6 kb, is composed of nine exons, and is present as a single copy. This molecular cloning makes it possible to investigate the genetic mechanism of diseases related to calcium metabolism, including vitamin D-dependency rickets type I.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0006-291X
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pubmed:author | |
pubmed:copyrightInfo |
Copyright 1997 Academic Press.
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pubmed:issnType |
Print
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pubmed:day |
20
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pubmed:volume |
239
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
527-33
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9344864-25-Hydroxyvitamin D3 1-alpha-Hydroxylase,
pubmed-meshheading:9344864-Amino Acid Sequence,
pubmed-meshheading:9344864-Animals,
pubmed-meshheading:9344864-Base Sequence,
pubmed-meshheading:9344864-Cloning, Molecular,
pubmed-meshheading:9344864-DNA,
pubmed-meshheading:9344864-DNA, Complementary,
pubmed-meshheading:9344864-Exons,
pubmed-meshheading:9344864-Genes,
pubmed-meshheading:9344864-Genomic Library,
pubmed-meshheading:9344864-Humans,
pubmed-meshheading:9344864-Introns,
pubmed-meshheading:9344864-Male,
pubmed-meshheading:9344864-Molecular Sequence Data,
pubmed-meshheading:9344864-Organ Specificity,
pubmed-meshheading:9344864-RNA, Messenger,
pubmed-meshheading:9344864-Rats
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pubmed:year |
1997
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pubmed:articleTitle |
Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase.
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pubmed:affiliation |
School of Medicine, Keio University, Tokyo, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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