Gene Ontology
This web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison.
What is Gene Ontology?
Gene ontology gives scientists a universal language to communicate gene function, processes, and location [1]. Like any language or dictionary, gene ontology is not fixed, but continues to expand as more becomes knowledge about the genes increases. Using gene ontology, scientists can conduct novel research on a gene, then understand how their findings are related to previous studies on the gene. Gene ontology is comprised of three components: Biological processes, Molecular functions, and cellular components.
Biological Processes
A biological process is a recognized series of events or molecular functions. A process is a collection of molecular events with a defined beginning and end. Mutant phenotypes often represent a disruption in a biological process [2]. G6PD has a large variety of biological processes, but the primary one is NADP metabolic process. This makes sense, as G6PD serves as a producer of NADPH, and is the sole NADPH producer in red blood cells. G6PD deficiency represents a mutation that disrupts the process of NADPH production.
Gene ontology gives scientists a universal language to communicate gene function, processes, and location [1]. Like any language or dictionary, gene ontology is not fixed, but continues to expand as more becomes knowledge about the genes increases. Using gene ontology, scientists can conduct novel research on a gene, then understand how their findings are related to previous studies on the gene. Gene ontology is comprised of three components: Biological processes, Molecular functions, and cellular components.
Biological Processes
A biological process is a recognized series of events or molecular functions. A process is a collection of molecular events with a defined beginning and end. Mutant phenotypes often represent a disruption in a biological process [2]. G6PD has a large variety of biological processes, but the primary one is NADP metabolic process. This makes sense, as G6PD serves as a producer of NADPH, and is the sole NADPH producer in red blood cells. G6PD deficiency represents a mutation that disrupts the process of NADPH production.
, Figure 1. Graphical representation of fraction of each of G6PD enzyme's biological processes, showing the largest portion devoted to nicotinamide nucleotide metabolic process.
Molecular Function
A gene's molecular functions are its "abilities." For G6PD, it's most common function, or ability, is NADP binding. Molecular Function is different from biological processes because the process is comprised of a series of functions. For example, NADP binding (Molecular Function) is just one step in NADP metabolic process (Biological Process) [1].
Cellular Component
Cellular component describes the location of a gene product. The location can refer to an area of the cell or specific organelles, The G6PD enzyme is located throughout the cytosol in all cells.
A gene's molecular functions are its "abilities." For G6PD, it's most common function, or ability, is NADP binding. Molecular Function is different from biological processes because the process is comprised of a series of functions. For example, NADP binding (Molecular Function) is just one step in NADP metabolic process (Biological Process) [1].
Cellular Component
Cellular component describes the location of a gene product. The location can refer to an area of the cell or specific organelles, The G6PD enzyme is located throughout the cytosol in all cells.
Figure 2. The cytosol is represented in green
Discussion
Gene ontology is crucial for understanding the gene and gene products, and communicating the research done on the gene. From using the three categories of gene ontology, we can see that G6PD plays an important role in NADPH production throughout the cell. A mutation of the G6PD gene results in disruption of the biological process NADPH production, which causes the cell to be more susceptible to reactive oxygen species. This disruption can be due to a diminished ability to perform the molecular function of NADP binding. This would make sense if the mutation is located on the NAD Binding Domain (See Protein Domains page).
Gene ontology is crucial for understanding the gene and gene products, and communicating the research done on the gene. From using the three categories of gene ontology, we can see that G6PD plays an important role in NADPH production throughout the cell. A mutation of the G6PD gene results in disruption of the biological process NADPH production, which causes the cell to be more susceptible to reactive oxygen species. This disruption can be due to a diminished ability to perform the molecular function of NADP binding. This would make sense if the mutation is located on the NAD Binding Domain (See Protein Domains page).
References
[1] UniProt. (2014). "Gene Ontology (GO)". Retrieved From https://www.uniprot.org/help/gene_ontologywww.uniprot.org/help/gene_ontology
[2] Gene Ontology Consortium (2015). Retrieved From http://geneontology.org/book/export/html/936
Figures
Header: European Bioinformatics Institute. (2018) "What is GO?" Retrieved from https://www.ebi.ac.uk/training/online/course/goa-and-quickgo-quick-tour/what-go
Figure 2. The Human Protein Atlas (2018). "G6PD." Retrieved from https://www.proteinatlas.org/ENSG00000160211-G6PD/cell
[1] UniProt. (2014). "Gene Ontology (GO)". Retrieved From https://www.uniprot.org/help/gene_ontologywww.uniprot.org/help/gene_ontology
[2] Gene Ontology Consortium (2015). Retrieved From http://geneontology.org/book/export/html/936
Figures
Header: European Bioinformatics Institute. (2018) "What is GO?" Retrieved from https://www.ebi.ac.uk/training/online/course/goa-and-quickgo-quick-tour/what-go
Figure 2. The Human Protein Atlas (2018). "G6PD." Retrieved from https://www.proteinatlas.org/ENSG00000160211-G6PD/cell