Statements (49)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
|
gptkbp:alternativeSplicing |
produces keratin isoforms
|
gptkbp:associatedWith |
gptkb:epidermolysis_bullosa_simplex
gptkb:pachyonychia_congenita hair disorders skin diseases |
gptkbp:database |
gptkb:NCBI_Gene
gptkb:HGNC gptkb:UniProt gptkb:Ensembl |
gptkbp:dividedInto |
type I keratin genes
type II keratin genes |
gptkbp:encodes |
keratin proteins
|
gptkbp:expressedIn |
gptkb:skin
nails cornea hair follicles epithelial tissues liver (some types) |
gptkbp:firstDescribed |
1970s
|
gptkbp:foundIn |
humans
other vertebrates |
gptkbp:fullName |
keratin genes
|
gptkbp:function |
structural support in epithelial cells
|
https://www.w3.org/2000/01/rdf-schema#label |
KRT genes
|
gptkbp:locatedOn |
chromosome 12 (type I)
chromosome 17 (type II) |
gptkbp:mutationAssociatedWith |
hair abnormalities
nail dystrophy skin fragility |
gptkbp:numberOfGenes |
over 50
|
gptkbp:orthologIn |
gptkb:meat
gptkb:zebrafish mice other vertebrates |
gptkbp:proteinFamily |
intermediate filament proteins
|
gptkbp:regulates |
transcription factors
epigenetic mechanisms |
gptkbp:relatedTo |
cell integrity
cytoskeletal structure mechanical resilience |
gptkbp:studiedIn |
genetics
molecular biology oncology dermatology |
gptkbp:usedAs |
biomarkers in cancer diagnosis
markers for epithelial cell differentiation |
gptkbp:bfsParent |
gptkb:Cytokeratin
|
gptkbp:bfsLayer |
7
|