UniProt | Protein Name |
---|---|
Q9UEF7 |
|
GO Term | Evidence Code | PMID |
---|---|---|
calcium ion homeostasis | ||
response to angiotensin | ||
fibroblast growth factor receptor signaling pathway | ||
norepinephrine biosynthetic process | ||
determination of adult lifespan |
GO Term | Evidence Code | PMID |
---|---|---|
membrane | ||
apical plasma membrane | ||
plasma membrane | ||
extracellular region | ||
extracellular space |
GO Term | Evidence Code | PMID |
---|---|---|
fibroblast growth factor binding | ||
fibroblast growth factor receptor binding | ||
vitamin D binding | ||
hormone activity | ||
beta-glucosidase activity |
InterPro |
---|
Glycoside hydrolase family 1 |
Glycoside hydrolase superfamily |
Glycosyl hydrolases family 1, N-terminal conserved site |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000103 | Polyuria |
HP:0000787 | Nephrolithiasis |
HP:0000938 | Osteopenia |
HP:0001959 | Polydipsia |
HP:0002315 | Headache |
HP:0002514 | Cerebral calcification |
HP:0002905 | Hyperphosphatemia |
HP:0003072 | Hypercalcemia |
HP:0003165 | Elevated circulating parathyroid hormone level |
Disease ID | Disease Name |
---|---|
OMIM:617994 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
122226760 | PANLE25141 | |||
129011793 | 9600_0:0036b7 |
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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