What is gene ontology?
Gene ontology is used to classify the functions of gene products. A gene product is defined as the proteins and non-coding RNAs that are produced from gene expression [1]. Gene Ontology has benefited numerous scientific publications through coverage of genes from organisms of all kingdoms of life, along with viruses [1]. There are three terms in gene ontology that are used to classify gene products: molecular function, cellular component, and biological process [2]:
- Molecular Function: activities performed by the gene products at the cellular level [2]
- Cellular Component: the specific location of the gene product relative to the cell [2]
- Biological Process: the biological process the gene product is involved in as a result of multiple molecular activities [2]
GO for SCN1A
Molecular function [3]
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Biological process [3]
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Cellular component [3]
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Discussion
SCN1A is located in the cell membrane, used for voltage-gated sodium channel activity, and involved in sodium ion transport. This process that SCN1A is involved in is important for symptoms and causes of FHM3 - too much sodium influx sets off CSD, which is believed to be the cause behind reversible motor impairment.
References
[1] Carbon, S., et al. (2020). The Gene Ontology Resource: Enriching a gold mine. Nucleic Acids Research, 49(D1). https://doi.org/10.1093/nar/gkaa1113
[2] Gene ontology overview. Gene Ontology Resource. (2024, April 9). https://geneontology.org/docs/ontology-documentation/
[3] InterProScan Search Result, SCN1A. InterPro. (n.d.). https://www.ebi.ac.uk/interpro/result/InterProScan/iprscan5-R20240403-224305-0683-43191542-p1m/
Images not hyperlinked created in BioRender.
[2] Gene ontology overview. Gene Ontology Resource. (2024, April 9). https://geneontology.org/docs/ontology-documentation/
[3] InterProScan Search Result, SCN1A. InterPro. (n.d.). https://www.ebi.ac.uk/interpro/result/InterProScan/iprscan5-R20240403-224305-0683-43191542-p1m/
Images not hyperlinked created in BioRender.
About the website
This web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison
Joely Swanson
Last updated April 9th, 2024
Genetics 564 website
Joely Swanson
Last updated April 9th, 2024
Genetics 564 website