GENE ontology
What is gene ontology?
Gene ontology consists of a compilation of the knowledge about a certain domain in biology. It consists of three areas: molecular function, cellular component, and biological process. Molecular function is the activity that a certain protein performs. The cellular component is simply where in the cell the protein performs its function. Finally, biological process refers to the broad function that the protein contributes to, such as cell lysis.[1]
Gene ontology for FERMt1
Molecular Function
Kindlin-1 carries out kinase activity and binds to talin. Talin is a protein that is capable of binding to integrin.[3]
Cellular Component
Kindlin-1 is found in the cytosol and cytoskeleton of most cells.[3]
Biological Process
Kindlin-1 is involved in the integrin mediated binding pathway, negative regulation of gene expression, positive regulation of cell matrix adhesion, cell junction, and several other functions.[3]
Discussion
The gene ontology for FERMT1 reveals its involvement in a huge number of biological processes. They provide an explanation for the blistering phenotype in Kindler syndrome because of its involvement in cell matrix adhesion and cell junction. Interestingly, its role in negative regulation of gene expression could provide some explanation for cancer development in some Kindler syndrome patients.
References
Header image: phys.org/news/2019-05-stem-cell-identity-unmasked-sequencing.html
Image 1: www.biocompare.com/pfu/110447/soids/16626/Antibodies/FERMT1
1. “Gene Ontology Overview.” Gene Ontology Resource. Retrieved 5/9/2020 from geneontology.org/docs/ontology-documentation/.
2. “Talin (Protein).” (4 May 2020). Wikipedia. Retrieved 5/9/2020 from en.wikipedia.org/wiki/Talin_(protein).
3. “Fermitin Family Homolog 1.” AmiGO 2. Retrieved 5/9/2020 from amigo.geneontology.org/amigo/gene_product/UniProtKB:Q9BQL6.
Image 1: www.biocompare.com/pfu/110447/soids/16626/Antibodies/FERMT1
1. “Gene Ontology Overview.” Gene Ontology Resource. Retrieved 5/9/2020 from geneontology.org/docs/ontology-documentation/.
2. “Talin (Protein).” (4 May 2020). Wikipedia. Retrieved 5/9/2020 from en.wikipedia.org/wiki/Talin_(protein).
3. “Fermitin Family Homolog 1.” AmiGO 2. Retrieved 5/9/2020 from amigo.geneontology.org/amigo/gene_product/UniProtKB:Q9BQL6.
This web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison."