Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
vitamin D-dependent rickets type I
|
| gptkbp:encodes |
1-alpha-hydroxylase
|
| gptkbp:Entrez_Gene_ID |
1594
|
| gptkbp:enzymeCommissionNumber |
EC 1.14.15.18
|
| gptkbp:expressedIn |
gptkb:kidney
gptkb:placenta macrophages |
| gptkbp:function |
hydroxylation of 25-hydroxyvitamin D3
synthesis of 1,25-dihydroxyvitamin D3 |
| gptkbp:HGNC_ID |
2607
|
| https://www.w3.org/2000/01/rdf-schema#label |
CYP27B1
|
| gptkbp:locatedOnChromosome |
12q13.1-q13.3
|
| gptkbp:OMIM |
609506
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Cyp27b1
|
| gptkbp:product |
cytochrome P450 family 27 subfamily B member 1
|
| gptkbp:RefSeq |
NM_000785
|
| gptkbp:regulates |
fibroblast growth factor 23 downregulates
parathyroid hormone upregulates |
| gptkbp:UniProtID |
Q9UBX1
|
| gptkbp:bfsParent |
gptkb:CYP27_family
gptkb:CYP_family |
| gptkbp:bfsLayer |
5
|