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:0000007 | Autosomal recessive inheritance |
HP:0000684 | Delayed eruption of teeth |
HP:0000737 | Irritability |
HP:0000867 | Secondary hyperparathyroidism |
HP:0000886 | Deformed rib cage |
HP:0000893 | Bulging of the costochondral junction |
HP:0000897 | Rachitic rosary |
HP:0000920 | Enlargement of the costochondral junction |
HP:0001252 | Hypotonia |
HP:0001270 | Motor delay |
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 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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