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:0005469 | Flat occiput |
HP:0006297 | Enamel hypoplasia |
HP:0008897 | Postnatal growth retardation |
HP:0009023 | Abdominal wall muscle weakness |
HP:0010502 | Fibular bowing |
HP:0010537 | Wide cranial sutures |
HP:0010639 | Elevated alkaline phosphatase of bone origin |
HP:0011463 | Childhood onset |
HP:0012052 | Low serum calcitriol |
HP:0012053 | Decreased circulating calcifediol concentration |
Disease ID | Disease Name |
---|---|
OMIM:264700 |
|
ORPHA:289157 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103191415 | CALMI45533 | ||
102346327 | LATCH20124 | ||
793309 | ZFIN:ZDB-GENE-111005-2 | DANRE02378 | |
103035224 | ASTMX05345 | ||
113572450 | ELEEL12470 | ||
106583283 | SALSA83210 | ||
115150468 | SALTR32841 | ||
115207954 | SALTR37695 | ||
101172325 | ORYLA14355 | ||
115583387 | SPAAU42058 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024