What is Gene Ontology?
Gene ontology (GO) creates a framework for describing a gene products function in all organisms [1]. Gene ontology is broken down into the following three categories:
Molecular Function: The activities performed by the gene of interest on a molecular level. This function can be performed by an individual gene product. Examples can include catalytic activity and transport activity. Biological Process: The larger process for multiple molecular activities that are associated with your gene of interest. Examples can include signal transduction, DNA repair, or glucose transmembrane transport. Cellular Component: The location where the gene of interest performs the biological process. Examples include plasma membrane, cytoskeleton, or clathrin complex. GO terms often include a unique identifier and labeling of your gene of interest. These three categories together allows you to get a better understanding of the gene of interest as a whole. |
Gene Ontology for FH
Biological Process
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Molecular Function
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Cellular Component
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The FH gene encodes the enzyme Fumarate Hydratase, a lowers the activation energy needed in the conversion of Fumarate to Malate.
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The Fumarate Hydratase activity coupled with other proteins break the double bound between the carbons of Fumarate, leading to the formation of Malate in the Krebs Cycle. The Krebs Cycle creates ATP that is used as energy in the cell.
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The Krebs Cycle takes place in the mitochondrial matrix of the cell.
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Discussion
The FH enzyme is involved in the creation of ATP in the mitochondria [2]. When FH isn't present cells, these cells may become carcinogenic, specifically in the kidney. The global role of FH in the kidney cells is still unknown, so fully understanding the GO terms will give us a more knowledge about this process.
References:
[1] Gene Ontology Unifying Biology. (2024, April 9). Gene ontology overview. Gene Ontology Resource. https://geneontology.org/docs/ontology-documentation/
[2] Ooi, A. (2020, April). Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research. Seminars in cancer biology. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078051/
Saxena, R., Bishnoi, R., & Singla, D. (2021, October 22). Gene ontology: Application and importance in functional annotation of the genomic data. Bioinformatics. https://www.sciencedirect.com/science/article/pii/B9780323897754000158
[2] Ooi, A. (2020, April). Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research. Seminars in cancer biology. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078051/
Saxena, R., Bishnoi, R., & Singla, D. (2021, October 22). Gene ontology: Application and importance in functional annotation of the genomic data. Bioinformatics. https://www.sciencedirect.com/science/article/pii/B9780323897754000158
This web page was produced as an assignment for Genetics 564, a capstone course at UW-Madison.