Statements (46)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
HGPRT
HPRT hypoxanthine phosphoribosyltransferase |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Lesch-Nyhan_syndrome
Kelley-Seegmiller syndrome |
| gptkbp:biologicalProcess |
transferase activity
purine nucleotide biosynthesis salvage of purines from degraded DNA and RNA |
| gptkbp:discoveredBy |
Seegmiller JE et al.
|
| gptkbp:encodes |
gptkb:hypoxanthine-guanine_phosphoribosyltransferase
|
| gptkbp:Entrez_Gene_ID |
3251
ENSG00000165704 |
| gptkbp:expressedIn |
many tissues
|
| gptkbp:firstDescribed |
1967
|
| gptkbp:fullName |
hypoxanthine phosphoribosyltransferase 1
|
| gptkbp:function |
catalyzes conversion of guanine to GMP
catalyzes conversion of hypoxanthine to IMP purine salvage pathway |
| gptkbp:gene |
HPRT1
|
| gptkbp:HGNC_ID |
5157
|
| https://www.w3.org/2000/01/rdf-schema#label |
HPRT1 gene
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:length |
218 amino acids
approximately 44 kb |
| gptkbp:locatedOnChromosome |
gptkb:X_chromosome
Xq26.1 |
| gptkbp:molecularWeight |
24 kDa
|
| gptkbp:mutationAssociatedWith |
nonsense
deletion insertion missense splicing |
| gptkbp:numberOfExons |
9
|
| gptkbp:OMIM |
308000
|
| gptkbp:orthologInMouse |
Hprt gene
|
| gptkbp:product |
monomer
|
| gptkbp:proteinDeficiencyLeadsTo |
neurological dysfunction
hyperuricemia self-mutilation behavior in Lesch-Nyhan syndrome |
| gptkbp:UniProtID |
P00492
|
| gptkbp:usedAs |
housekeeping gene in molecular biology
|
| gptkbp:bfsParent |
gptkb:Lesch–Nyhan_syndrome
gptkb:Nyhan_syndrome |
| gptkbp:bfsLayer |
7
|