UniProt | Protein Name |
---|---|
O15528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
calcium ion transport | ||
negative regulation of calcidiol 1-monooxygenase activity | ||
G1 to G0 transition | ||
response to estrogen | ||
response to lipopolysaccharide |
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 |
---|---|---|---|
105587234 | CERAT33643 | ||
102117707 | MACFA03562 | ||
715747 | MACMU04637 | ||
105474079 | MACNE23937 | ||
101009903 | PAPAN41692 | ||
105545594 | MANLE29939 | ||
101146696 | GORGO04584 | ||
100974264 | PANPA08963 | ||
452027 | PANTR05438 | ||
100443915 | PONAB06316 |
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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