Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:affects |
iron homeostasis
|
| gptkbp:alternativeName |
Hemochromatosis protein
|
| gptkbp:associatedWith |
gptkb:diabetes_mellitus
arthritis liver cirrhosis cardiomyopathy iron overload |
| gptkbp:category |
gptkb:cell_membrane
gptkb:protein |
| gptkbp:discoveredIn |
1996
|
| gptkbp:encodedBy |
gptkb:HFE_gene
|
| gptkbp:Entrez_Gene_ID |
3077
|
| gptkbp:expressedIn |
liver
macrophages intestine |
| gptkbp:foundIn |
humans
mammals |
| gptkbp:function |
regulation of iron absorption
|
| https://www.w3.org/2000/01/rdf-schema#label |
HFE protein
|
| gptkbp:interactsWith |
gptkb:transferrin_receptor
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
| gptkbp:location |
gptkb:cell_membrane
|
| gptkbp:mutationAssociatedWith |
C282Y
H63D S65C hereditary hemochromatosis |
| gptkbp:OMIM |
613609
|
| gptkbp:PDB |
1DE4
|
| gptkbp:regulates |
hepcidin expression
|
| gptkbp:structure |
MHC class I-like
|
| gptkbp:UniProtID |
Q30201
|
| gptkbp:bfsParent |
gptkb:HFE
|
| gptkbp:bfsLayer |
6
|