Ontology of filaggrin


Seven different processes have been associated with the filaggrin gene, according to AmiGO.

Biological Processes
  • keratinocyte differentiation
  • multicellular organismal development  
Cellular Components
  • cornified envelope
  • intermediate filament
  • cytoplasmic membrane-bounded vesicle
Molecular Function
  • calcium ion binding
  • structural molecule activity
  
The following categorizations were found for the filaggrin gene using UniProt. ( P20930)

Coding sequence diversity
Disease
Domain
Ligand
Molecular function
PTM
Technical term

These structural and biological associations make sense in the context of a dermatitis phenotype. As we know already, the filaggrin protein is involved in the binding of keratin intermediate filaments. This binding helps to aggregate the keratin intermediate filaments at the correct area of the epidermal layer, forming a matrix where the filaggrin protein essentially acts as a glue holding this matrix together. We see in the ontology a relationship with a calcium binding protein, which would be important to look into for future research or for the perturbation of the filaggrin pathway since it may be that a calcium molecule binding is required for the correct function of the filaggrin, as indicated by these ontologies. As suggested by the ontologies reported, there is this structural importance of filaggrin in the integrity of the epidermal skin barrier, which also makes it an important developmental protein. As we saw in STRING, phosphorylation of the filaggrin by other proteins also plays an important role in the pathway of the protein, which we see reported here in the PTM ontology of the protein.

.
 
References
1. AmiGO http://amigo.geneontology.org/cgi-bin/amigo/go.cgi
2. UniProt http://www.uniprot.org/uniprot/P20930#section_terms
3. Palmer CN, Irvine AD, Terron-Kwiatkowski A, et al. (2006). "Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis". Nat. Genet. 38 (4): 441–6.
4. Sandilands A, Sutherland C, Irvine AD, McLean WH. Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci 2009; 122 (Pt 9): 1285–1294.
Dalia Saleh
saleh [ @ ] wisc.edu
last updated 2/9/10
gen677.weebly.com