Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.6.3.14 (ATP synthase)
 7,042 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The human retinoblastoma cell line Y79 has multiple copies of the MYCN gene and the DEAD box gene DDXI. Both genes have been mapped to chromosome band 2p24. A third gene, encoding the alpha-subunit of mitochondrial ATP synthase (ATPSA), is also amplified in Y79. Here we report that there are at least four human mitochondrial ATPSA-related genes located on four different chromosomes. The ATPSA gene that is amplified in Y79 originates from chromosome 18. In Y79, the amplified copies of both the ATPSA and the MYCN genes are located on a homogeneously staining region (HSR) at chromosome band Ip34.
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PMID:Mitochondrial ATP synthase alpha-subunit gene amplified in a retinoblastoma cell line maps to chromosome 18. 852 86

The four mitochondrial ATP synthase alpha-subunit (ATP5A) genes map to chromosomes 2, 9, 16, and 18. In this study we have refined the localization of two of these genes by fluorescence in situ hybridization (FISH) to metaphase spreads, and further characterised the involvement of ATP5A in the amplification process in the retinoblastoma cell line Y79. Comparative genomic hybridization (CGH) analysis of Y79 indicated that gene amplification was present on both the short arm of chromosome 2 and the long arm of chromosome 18. FISH indicated that the functional ATP5A gene mapped to 18q12-->q21, the same band location identified by CGH analysis of Y79. An ATP5A pseudogene (ATP5AP1) maps to 9p12. Gains in chromosomal material at 18q12-->q21 likely involve hybridization to amplified copies of the ATP5A gene while gains at 2p24 represent hybridization to the MYCN and DDX1 genes, also amplified in Y79.
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PMID:Comparative genomic hybridization analysis of Y79 and FISH mapping indicate the amplified human mitochondrial ATP synthase alpha-subunit gene (ATP5A) maps to chromosome 18q12-->q21. 928 28