UniProt | Protein Name |
---|---|
O15528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
vitamin D catabolic process | ||
vitamin D metabolic process | ||
regulation of bone mineralization | ||
positive regulation of keratinocyte differentiation | ||
calcitriol biosynthetic process from calciol |
GO Term | Evidence Code | PMID |
---|---|---|
cytoplasm | ||
mitochondrial outer membrane |
|
|
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
iron ion binding | ||
secalciferol 1-monooxygenase activity | ||
calcidiol 1-monooxygenase activity | ||
heme binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050336 | hypophosphatemia | |
DOID:0050387 | nonpapillary renal cell carcinoma | |
DOID:0050445 | X-linked dominant hypophosphatemic rickets | |
DOID:0050459 | hyperphosphatemia | |
DOID:0050486 | exanthem | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050700 | cardiomyopathy | |
DOID:0050801 | androgenic alopecia | |
DOID:0050865 | tongue squamous cell carcinoma | |
DOID:0060058 | lymphoma |
HPO ID | HPO Term |
---|---|
HP:0002752 | Sparse bone trabeculae |
HP:0002753 | Thin bony cortex |
HP:0002757 | Recurrent fractures |
HP:0002901 | Hypocalcemia |
HP:0002909 | Generalized aminoaciduria |
HP:0002970 | Genu varum |
HP:0002979 | Bowing of the legs |
HP:0002980 | Femoral bowing |
HP:0002982 | Tibial bowing |
HP:0003013 | Bulging epiphyses |
Disease ID | Disease Name |
---|---|
OMIM:264700 |
|
ORPHA:289157 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
108708601 | Xenbase:XB-GENE-6486567 | ||
108709871 | Xenbase:XB-GENE-17346157 | ||
448754 | Xenbase:XB-GENE-942527 | ||
100135708 | Xenbase:XB-GENE-490214 | ||
101954100 | CHRPI00646 | ||
109324487 | CROPO26564 | ||
113445553 | PSETE18437 | ||
114814717 | ORNAN00938 | ||
100913970 | SARHA09513 | ||
100388588 | CALJA44294 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024