UniProt | Protein Name |
---|---|
A0A140VJL3 |
|
P00492 |
|
GO Term | Evidence Code | PMID |
---|---|---|
hypoxanthine salvage | ||
T cell mediated cytotoxicity | ||
purine ribonucleoside salvage | ||
adenine metabolic process | ||
striatum development |
GO Term | Evidence Code | PMID |
---|---|---|
hypoxanthine phosphoribosyltransferase activity | ||
magnesium ion binding | ||
protein binding | ||
guanine phosphoribosyltransferase activity | ||
nucleotide binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:3355 | fibrosarcoma | |
DOID:0040085 | bacterial sepsis | |
DOID:0050427 | xeroderma pigmentosum | |
DOID:0050461 | aspartylglucosaminuria | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050681 | Borjeson-Forssman-Lehmann syndrome | |
DOID:0050776 | non-syndromic X-linked intellectual disability | |
DOID:0050841 | focal hand dystonia | |
DOID:0060022 | CD40 ligand deficiency |
HPO ID | HPO Term |
---|---|
HP:0002149 | Hyperuricemia |
HP:0002179 | Opisthotonus |
HP:0002342 | Intellectual disability, moderate |
HP:0002421 | Poor head control |
HP:0002827 | Hip dislocation |
HP:0003149 | Hyperuricosuria |
HP:0003259 | Elevated circulating creatinine concentration |
HP:0003593 | Infantile onset |
HP:0003621 | Juvenile onset |
HP:0004322 | Short stature |
Disease ID | Disease Name |
---|---|
ORPHA:510 |
|
ORPHA:79233 |
|
OMIM:300322 |
|
OMIM:300323 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100555105 | ANOCA11715 | ||
103670322 | URSMA16091 | ||
103672979 | URSMA26214 | ||
102544742 | VICPA01860 | ||
100950751 | OTOGA05955 | ||
105732276 | AOTNA36506 | ||
101053337 | SAIBB18644 | ||
101955334 | ICTTR01046 | ||
118319434 | SCOMX06085 | ||
102441052 | MYOLU00690 |
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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