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:0001281 | Tetany |
HP:0001290 | Generalized hypotonia |
HP:0001324 | Muscle weakness |
HP:0001508 | Failure to thrive |
HP:0001510 | Growth delay |
HP:0001538 | Protuberant abdomen |
HP:0001638 | Cardiomyopathy |
HP:0001744 | Splenomegaly |
HP:0001931 | Hypochromic anemia |
HP:0001974 | Leukocytosis |
Disease ID | Disease Name |
---|---|
OMIM:264700 |
|
ORPHA:289157 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
173936 | WB:WBGene00000375 | ||
36105 | FB:FBgn0033524 | ||
36378 | FB:FBgn0033753 | ||
37163 | FB:FBgn0034387 | ||
40037 | FB:FBgn0036806 | ||
41272 | FB:FBgn0037817 | ||
42293 | FB:FBgn0038680 | ||
42294 | FB:FBgn0038681 | ||
246648 | FB:FBgn0050489 | ||
2768720 | FB:FBgn0053503 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024