Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:epidermolytic_hyperkeratosis
palmoplantar keratoderma |
| gptkbp:encodes |
keratin, type II cytoskeletal 1
|
| gptkbp:Entrez_Gene_ID |
3848
ENSG00000170322 |
| gptkbp:expressedIn |
epidermis
|
| gptkbp:fullName |
keratin 1
|
| gptkbp:function |
structural component of intermediate filaments in keratinocytes
|
| gptkbp:HGNC_ID |
HGNC:6436
|
| https://www.w3.org/2000/01/rdf-schema#label |
KRT1
|
| gptkbp:interactsWith |
KRT10
KRT2 |
| gptkbp:locatedOnChromosome |
gptkb:chromosome_12
12q13.13 |
| gptkbp:mutationAssociatedWith |
skin fragility
|
| gptkbp:OMIM |
139350
|
| gptkbp:orthologInMouse |
Krt1
|
| gptkbp:proteinFamily |
gptkb:keratin_family
|
| gptkbp:UniProtID |
P04264
|
| gptkbp:bfsParent |
gptkb:type_II_cytokeratins
|
| gptkbp:bfsLayer |
6
|