Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.1 (S1 nuclease)
 3,660 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The structure of the gene for human 70-kDa type IV collagenase (gelatinase) was determined. Three overlapping genomic clones were isolated and shown to contain 0.4 kilobase (kb) of the 5'-flanking region, the 27-kb structural gene, and 4.5 kb of the 3'-flanking region. The gene has 13 exons that vary in length from 110 to 901 base pairs (bp) and 12 introns that range from 175 to 4350 bp. Alignment of intron locations demonstrated that introns 1-4 and 8-12 of the type IV collagenase gene coincide with intron locations in the interstitial collagenase and stromelysin genes, indicating a close structural relationship of these metalloproteinase genes. Exons 5-7 are each 174 bp in size, and each codes for one complete internal repeat that resembles the collagen-binding domains of fibronectin. The transcription initiation site was determined by primer extension and S1 nuclease analyses. Analysis of the 0.4-kb 5'-flanking region of the gene showed that, in contrast to the genes of interstitial collagenease and stromelysin, there is no TATA box or 12-O-tetradecanoylphorbol-13-acetate-responsive element present in the promoter region, whereas there are two GC boxes. There is no CAAT box, but a potential binding site (CCCCAGGC) for the transcription factor AP-2 is located in the first exon.
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PMID:Structure of the human type IV collagenase gene. 216 31

We have isolated a human ornithine decarboxylase (ODC) gene from a leukocyte genomic DNA library in order to examine the mechanisms involved in the regulation of ODC gene expression in normal and neoplastic cell growth. Nucleotide sequence analysis shows that the human ODC gene in clone ODC709-A2 consists of 12 exons which encode a protein identical to that inferred from a human ODC cDNA sequence. The 5' end of the gene was determined by S1 nuclease and primer extension mapping. The high G + C content and small open reading frame found in exon 1 may be pertinent to translation regulation of ODC. Conserved sequences and potential promoter elements including a TATA box, a possible CCAAT element, SP1 and AP-2 transcription factor binding sites, and cAMP response elements were identified in the 5'-flanking region. Transfection of mouse LM (tk-) cells with ODC709-A2 DNA resulted in the production of human ODC mRNA approximately 2.25 kilobases in length. Evidence that the protein synthesized from the human gene is functional is provided by "rescue" transfection of a Chinese hamster ovary mutant cell line, C55.7, which is ODC-deficient. C55.7 cells transfected with ODC709-A2 DNA expressed ODC enzyme activity and proliferated without exogenous putrescine.
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PMID:Isolation and expression of a human ornithine decarboxylase gene. 231 72