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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
HGPRT
HPRT
hypoxanthine phosphoribosyltransferase
|
|
gptkbp:alternativeSplicing
|
yes
|
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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
|
|
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
|
gptkb: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:Lesch–Nyhan_syndrome
gptkb:Nyhan_syndrome
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HPRT1 gene
|