What is Gene Ontology?
Gene ontology serves as a knowledge base that classifies the functions of gene products [1, 2]. Gene products include either the RNA or protein that is produced following gene expression [3]. Gene Ontology is a tool that has benefitted scientific research and it stores information on over 1000 organisms, allowing for comparison of homologous proteins and genes between different species [1, 2]. The terms on gene ontology that describe gene product function are listed under one of three categories: molecular function, biological process, or cellular component [1, 2]. These terms are defined in the following ways:
- Molecular Function describes the activities that the gene product executes at the molecular level [1, 2].
- Biological Process includes the broader processes that gene products are involved in, as a result of several molecular activities [1, 2].
- Cellular Component indicates the location in the cell in which a gene product is active [1, 2].
What are the Gene Ontology terms for GBA1? [4, 5]
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Discussion
Some of the gene ontology terms associated with GBA1 include sphingolipid metabolic process, lipid storage, microglial cell proliferation, glucosylceramidase activity, and the lysosomes [4, 5]. To contextualize what some of these terms mean, it is important to understand that glucosylceramide, which is a sphingolipid (sphingolipids are a subtype of lipid), is the substance that builds up in lysosomes due to Glucocerebrosidase enzyme deficiency [6, 7, 8, 9, 10]. GBA1 is also clearly implicated in microglial and lysosomal activity, which will help to address the gap in knowledge.
References
[1] Ashburner et al. Gene ontology: tool for the unification of biology. Nat Genet. May 2000;25(1):25-9. [abstract | full text]
[2] The Gene Ontology resource: enriching a GOld mine. Nucleic Acids Res. Jan 2021;49(D1):D325-D334. [abstract | full text]
[3] Lefers, M., & Holmgren Lab. (2004, July 26). Gene product definition. Retrieved March 27, 2023, from https://groups.molbiosci.northwestern.edu/holmgren/Glossary/Definitions/Def-G/gene_product.html
[4] Consortium, G. O. (n.d.). Lysosomal acid glucosylceramidase. AmiGO 2: Gene Product Details for UniProtKB:P04062. Retrieved March 5, 2023, from
http://amigo.geneontology.org/amigo/gene_product/UniProtKB:P04062
[5] GBA1. genecards.org. (n.d.). Retrieved March 28, 2023, from https://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA1
[6] Cleveland Clinic. (2020, September 14). Gaucher disease: Causes, symptoms & treatment. my.clevelandclinic.org. Retrieved February 21, 2023, from https://my.clevelandclinic.org/health/diseases/16234-gaucher-disease#:~:text=Healthcare%20providers%20diagnose%20Gaucher%20disease,the%20disease%20to%20their%20children
[7] Davey, Reginald. (2020, May 07). What are Sphingolipids?. News-Medical. Retrieved on April 30, 2023 from https://www.news-medical.net/life-sciences/What-are-Sphingolipids.aspx.
[8] Stone, W. L., Basit, H., & Master, S. R. (2022, June 7). Gaucher disease. National Library of Medicine| National Center for Biotechnology Information. Retrieved April 8, 2023, from https://www.ncbi.nlm.nih.gov/books/NBK448080/
[9] Motabar O, Huang W, Marugan JJ, et al. Identification of Modulators of the N370S Mutant Form of Glucocerebrosidase as a Potential Therapy for Gaucher Disease - Chemotype 1. 2010 Mar 24 [Updated 2011 May 5]. In: Probe Reports from the NIH Molecular Libraries Program [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2010-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK63601/
[10] Brain sphingolipid metabolism is closely involved in Gaucher disease. Baylor College of Medicine Blog Network. (2022, July 19). https://blogs.bcm.edu/2022/07/19/from-the-labs-brain-sphingolipid-metabolism-is-closely-involved-in-gaucher-disease/
[2] The Gene Ontology resource: enriching a GOld mine. Nucleic Acids Res. Jan 2021;49(D1):D325-D334. [abstract | full text]
[3] Lefers, M., & Holmgren Lab. (2004, July 26). Gene product definition. Retrieved March 27, 2023, from https://groups.molbiosci.northwestern.edu/holmgren/Glossary/Definitions/Def-G/gene_product.html
[4] Consortium, G. O. (n.d.). Lysosomal acid glucosylceramidase. AmiGO 2: Gene Product Details for UniProtKB:P04062. Retrieved March 5, 2023, from
http://amigo.geneontology.org/amigo/gene_product/UniProtKB:P04062
[5] GBA1. genecards.org. (n.d.). Retrieved March 28, 2023, from https://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA1
[6] Cleveland Clinic. (2020, September 14). Gaucher disease: Causes, symptoms & treatment. my.clevelandclinic.org. Retrieved February 21, 2023, from https://my.clevelandclinic.org/health/diseases/16234-gaucher-disease#:~:text=Healthcare%20providers%20diagnose%20Gaucher%20disease,the%20disease%20to%20their%20children
[7] Davey, Reginald. (2020, May 07). What are Sphingolipids?. News-Medical. Retrieved on April 30, 2023 from https://www.news-medical.net/life-sciences/What-are-Sphingolipids.aspx.
[8] Stone, W. L., Basit, H., & Master, S. R. (2022, June 7). Gaucher disease. National Library of Medicine| National Center for Biotechnology Information. Retrieved April 8, 2023, from https://www.ncbi.nlm.nih.gov/books/NBK448080/
[9] Motabar O, Huang W, Marugan JJ, et al. Identification of Modulators of the N370S Mutant Form of Glucocerebrosidase as a Potential Therapy for Gaucher Disease - Chemotype 1. 2010 Mar 24 [Updated 2011 May 5]. In: Probe Reports from the NIH Molecular Libraries Program [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2010-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK63601/
[10] Brain sphingolipid metabolism is closely involved in Gaucher disease. Baylor College of Medicine Blog Network. (2022, July 19). https://blogs.bcm.edu/2022/07/19/from-the-labs-brain-sphingolipid-metabolism-is-closely-involved-in-gaucher-disease/
Links to Images
1. Cover Image: https://www.researchgate.net/figure/Graphical-representation-of-the-nested-Gene-Ontology-GO-classification-showing-the_fig3_281963783
2. Images illustrating gene ontology terms: https://www.biorender.com/ and https://www.frontiersin.org/articles/10.3389/fphys.2020.558090/full
2. Images illustrating gene ontology terms: https://www.biorender.com/ and https://www.frontiersin.org/articles/10.3389/fphys.2020.558090/full