UniProtKB - P00492 (HPRT_HUMAN)
Protein
Hypoxanthine-guanine phosphoribosyltransferase
Gene
HPRT1
Organism
Homo sapiens (Human)
Status
Functioni
Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
Catalytic activityi
- EC:2.4.2.82 PublicationsThis reaction proceeds in the backward2 Publications direction.
- EC:2.4.2.82 PublicationsThis reaction proceeds in the backward2 Publications direction.
Cofactori
Mg2+Note: Binds 2 magnesium ions per subunit. The magnesium ions are essentially bound to the substrate and have few direct interactions with the protein.
Kineticsi
- KM=5.4 µM for IMP1 Publication
- KM=0.45 µM for hypoxanthine1 Publication
- KM=25 µM for pyrophosphate1 Publication
- KM=31 µM for phosphoribosylpyrophosphate1 Publication
: IMP biosynthesis via salvage pathway Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes IMP from hypoxanthine.Proteins known to be involved in this subpathway in this organism are:
- Hypoxanthine phosphoribosyltransferase (HPRT1), Hypoxanthine phosphoribosyltransferase, Hypoxanthine-guanine phosphoribosyltransferase (HPRT1)
View all proteins of this organism that are known to be involved in the subpathway that synthesizes IMP from hypoxanthine, the pathway IMP biosynthesis via salvage pathway and in Purine metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 69 | GMP1 Publication | 1 | |
Active sitei | 138 | Proton acceptorCurated | 1 | |
Binding sitei | 166 | GMP1 Publication | 1 | |
Metal bindingi | 194 | Magnesium | 1 | |
Binding sitei | 194 | GMP; via carbonyl oxygen1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 134 – 142 | GMP1 Publication | 9 | |
Nucleotide bindingi | 186 – 188 | GMP1 Publication | 3 |
GO - Molecular functioni
- guanine phosphoribosyltransferase activity Source: UniProtKB
- hypoxanthine phosphoribosyltransferase activity Source: UniProtKB
- identical protein binding Source: UniProtKB
- magnesium ion binding Source: UniProtKB
- nucleotide binding Source: UniProtKB-KW
GO - Biological processi
- adenine salvage Source: GO_Central
- central nervous system neuron development Source: Ensembl
- cerebral cortex neuron differentiation Source: Ensembl
- dendrite morphogenesis Source: Ensembl
- dopamine metabolic process Source: Ensembl
- GMP catabolic process Source: UniProtKB
- GMP salvage Source: GO_Central
- grooming behavior Source: Ensembl
- guanine salvage Source: UniProtKB
- hypoxanthine metabolic process Source: UniProtKB
- hypoxanthine salvage Source: UniProtKB
- IMP metabolic process Source: UniProtKB
- IMP salvage Source: GO_Central
- locomotory behavior Source: Ensembl
- lymphocyte proliferation Source: Ensembl
- positive regulation of dopamine metabolic process Source: UniProtKB
- protein homotetramerization Source: UniProtKB
- purine-containing compound salvage Source: Reactome
- purine nucleotide biosynthetic process Source: UniProtKB
- purine ribonucleoside salvage Source: UniProtKB
- response to amphetamine Source: Ensembl
- striatum development Source: Ensembl
- T cell mediated cytotoxicity Source: Ensembl
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Biological process | Purine salvage |
Ligand | Magnesium, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
BioCyci | MetaCyc:HS09275-MONOMER |
BRENDAi | 2.4.2.8, 2681 |
PathwayCommonsi | P00492 |
Reactomei | R-HSA-74217, Purine salvage |
SABIO-RKi | P00492 |
UniPathwayi | UPA00591;UER00648 |
Names & Taxonomyi
Protein namesi | Recommended name: Hypoxanthine-guanine phosphoribosyltransferase (EC:2.4.2.82 Publications)Short name: HGPRT Short name: HGPRTase |
Gene namesi | Name:HPRT1 Synonyms:HPRT |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:5157, HPRT1 |
MIMi | 308000, gene |
neXtProti | NX_P00492 |
VEuPathDBi | HostDB:ENSG00000165704.14 |
Subcellular locationi
Other locations
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Lesch-Nyhan syndrome (LNS)15 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionCharacterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_006751 | 8 | V → G in LNS; HB. | 1 | |
Natural variantiVAR_071609 | 8 | Missing in LNS; Asia. 1 Publication | 1 | |
Natural variantiVAR_006752 | 16 | G → D in LNS; FG. | 1 | |
Natural variantiVAR_012312 | 28 | Missing in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_006756 | 41 | L → P in LNS; Detroit. Corresponds to variant dbSNP:rs137852480EnsemblClinVar. | 1 | |
Natural variantiVAR_006757 | 42 | I → F in LNS; Isar. 1 Publication | 1 | |
Natural variantiVAR_006758 | 42 | I → T in LNS; Heapey. | 1 | |
Natural variantiVAR_006759 | 43 – 44 | MD → RN in LNS; Salamanca. | 2 | |
Natural variantiVAR_071611 | 44 | D → Y in LNS; Japan. 1 Publication | 1 | |
Natural variantiVAR_006760 | 45 | R → K in LNS; RJK 2163. 1 PublicationCorresponds to variant dbSNP:rs137852491EnsemblClinVar. | 1 | |
Natural variantiVAR_006763 | 50 | A → P in LNS; LW. Corresponds to variant dbSNP:rs1556026984EnsemblClinVar. | 1 | |
Natural variantiVAR_006762 | 50 | A → V in LNS; 1265. 1 Publication | 1 | |
Natural variantiVAR_006765 | 51 | R → P in LNS; Banbury. | 1 | |
Natural variantiVAR_006769 | 54 | M → L in LNS; Japan-1. 1 Publication | 1 | |
Natural variantiVAR_006770 | 57 | M → T in LNS; Montreal. 1 PublicationCorresponds to variant dbSNP:rs137852495EnsemblClinVar. | 1 | |
Natural variantiVAR_071613 | 64 | A → P in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_071614 | 65 | L → P in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_006773 | 70 | G → E in LNS; New Haven/1510, Asia. 3 PublicationsCorresponds to variant dbSNP:rs137852487EnsemblClinVar. | 1 | |
Natural variantiVAR_006774 | 71 | G → R in LNS; Yale. 1 PublicationCorresponds to variant dbSNP:rs137852488EnsemblClinVar. | 1 | |
Natural variantiVAR_071615 | 72 | Y → C in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_006775 | 74 | F → L in LNS; Flint/RJK 892/DW/Perth/1522, Japan. 4 PublicationsCorresponds to variant dbSNP:rs137852481EnsemblClinVar. | 1 | |
Natural variantiVAR_071616 | 78 | L → Q in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_071617 | 107 – 110 | Missing in LNS; Asia. 1 Publication | 4 | |
Natural variantiVAR_006780 | 130 | V → D in LNS; Midland/RJK 896. 2 PublicationsCorresponds to variant dbSNP:rs137852483EnsemblClinVar. | 1 | |
Natural variantiVAR_006781 | 131 | L → S in LNS; RJK 1784. 1 Publication | 1 | |
Natural variantiVAR_006783 | 132 | I → T in LNS; Runcorn. | 1 | |
Natural variantiVAR_006785 | 143 | M → K in LNS; RJK 1210. 1 PublicationCorresponds to variant dbSNP:rs137852496EnsemblClinVar. | 1 | |
Natural variantiVAR_006786 | 143 | M → MA in LNS; RW. | 1 | |
Natural variantiVAR_071619 | 147 | L → P in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_071620 | 159 | K → E in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_071621 | 159 | K → KV in LNS; Asia. 1 Publication | 1 | |
Natural variantiVAR_006788 | 162 | S → R in LNS; Farnham. | 1 | |
Natural variantiVAR_006790 | 176 | P → L in LNS; Marlow. Corresponds to variant dbSNP:rs137852493EnsemblClinVar. | 1 | |
Natural variantiVAR_006791 | 177 | D → V in LNS; Roanne. 1 Publication | 1 | |
Natural variantiVAR_006792 | 177 | D → Y in LNS; RJK 2185. 1 PublicationCorresponds to variant dbSNP:rs137852492EnsemblClinVar. | 1 | |
Natural variantiVAR_006793 | 179 | Missing in LNS; Michigan. | 1 | |
Natural variantiVAR_006795 | 188 | V → A in GOUT-HPRT AND LNS; Asia. 3 Publications | 1 | |
Natural variantiVAR_006798 | 194 | D → N in LNS; Kinston/RJK 2188. 2 PublicationsCorresponds to variant dbSNP:rs267606863EnsemblClinVar. | 1 | |
Natural variantiVAR_006800 | 199 | F → V in LNS; New Briton/RJK 950. 1 PublicationCorresponds to variant dbSNP:rs137852486EnsemblClinVar. | 1 | |
Natural variantiVAR_006803 | 201 | D → Y in LNS; GM. | 1 | |
Natural variantiVAR_006804 | 204 | H → D in LNS; RJK 1874. 1 PublicationCorresponds to variant dbSNP:rs137852490EnsemblClinVar. | 1 | |
Natural variantiVAR_006805 | 204 | H → R in LNS; 779. 1 Publication | 1 | |
Natural variantiVAR_006806 | 206 | C → Y in LNS; Reading/RJK 1727. 1 Publication | 1 |
Gout HPRT-related (GOUT-HPRT)12 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionCharacterized by partial enzyme activity and hyperuricemia.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_006750 | 7 | G → D in GOUT-HPRT; Gravesend. | 1 | |
Natural variantiVAR_006753 | 16 | G → S in GOUT-HPRT; Urangan. Corresponds to variant dbSNP:rs137852499EnsemblClinVar. | 1 | |
Natural variantiVAR_006754 | 20 | D → V in GOUT-HPRT; Mashad; strongly reduces enzymatic activity. 1 Publication | 1 | |
Natural variantiVAR_071610 | 23 | C → F in GOUT-HPRT; Reduces enzymatic activity. 1 Publication | 1 | |
Natural variantiVAR_006755 | 23 | C → W in GOUT-HPRT; JS. | 1 | |
Natural variantiVAR_006761 | 48 | R → H in GOUT-HPRT; AD and DD. Corresponds to variant dbSNP:rs387906725EnsemblClinVar. | 1 | |
Natural variantiVAR_006764 | 51 | R → G in GOUT-HPRT; Toronto. 1 PublicationCorresponds to variant dbSNP:rs137852494EnsemblClinVar. | 1 | |
Natural variantiVAR_006767 | 53 | V → A in GOUT-HPRT; MG. | 1 | |
Natural variantiVAR_006768 | 53 | V → M in GOUT-HPRT; TE. | 1 | |
Natural variantiVAR_006771 | 58 | G → R in GOUT-HPRT; Toowong. Corresponds to variant dbSNP:rs137852500EnsemblClinVar. | 1 | |
Natural variantiVAR_071612 | 60 | H → R in GOUT-HPRT; Reduces enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs1228634091Ensembl. | 1 | |
Natural variantiVAR_006776 | 78 | L → V in GOUT-HPRT; Swan. Corresponds to variant dbSNP:rs137852501EnsemblClinVar. | 1 | |
Natural variantiVAR_006777 | 80 | D → V in GOUT-HPRT; Arlington. Corresponds to variant dbSNP:rs137852478EnsemblClinVar. | 1 | |
Natural variantiVAR_006778 | 104 | S → R in GOUT-HPRT; Munich. 2 PublicationsCorresponds to variant dbSNP:rs137852485EnsemblClinVar. | 1 | |
Natural variantiVAR_006779 | 110 | S → L in GOUT-HPRT; London. 2 PublicationsCorresponds to variant dbSNP:rs137852482EnsemblClinVar. | 1 | |
Natural variantiVAR_071618 | 124 | T → P in GOUT-HPRT; Asia. 1 Publication | 1 | |
Natural variantiVAR_006782 | 132 | I → M in GOUT-HPRT; Ann-Arbor. 1 PublicationCorresponds to variant dbSNP:rs137852477EnsemblClinVar. | 1 | |
Natural variantiVAR_006784 | 135 | D → G in GOUT-HPRT; Yeronga. | 1 | |
Natural variantiVAR_006787 | 161 | A → S in GOUT-HPRT; Milwaukee/RJK 949. 1 PublicationCorresponds to variant dbSNP:rs137852484EnsemblClinVar. | 1 | |
Natural variantiVAR_006789 | 168 | T → I in GOUT-HPRT; Brisbane. 1 PublicationCorresponds to variant dbSNP:rs137852498EnsemblClinVar. | 1 | |
Natural variantiVAR_006794 | 179 – 180 | VG → GR in GOUT-HPRT; Japan-2. | 2 | |
Natural variantiVAR_006796 | 183 | I → T in GOUT-HPRT; JF. 1 Publication | 1 | |
Natural variantiVAR_071622 | 185 | D → G in GOUT-HPRT; Asia. 1 Publication | 1 | |
Natural variantiVAR_006795 | 188 | V → A in GOUT-HPRT AND LNS; Asia. 3 Publications | 1 | |
Natural variantiVAR_071623 | 192 | A → V in GOUT-HPRT; Asia. 2 Publications | 1 | |
Natural variantiVAR_006797 | 194 | D → E in GOUT-HPRT; Moose-Jaw; results in cooperativity and decreased substrate affinities. 1 PublicationCorresponds to variant dbSNP:rs137852504EnsemblClinVar. | 1 | |
Natural variantiVAR_006799 | 195 | Y → C in GOUT-HPRT; Dirranbandi, Asia. 2 Publications | 1 | |
Natural variantiVAR_006801 | 201 | D → G in GOUT-HPRT; Ashville. 1 PublicationCorresponds to variant dbSNP:rs137852479EnsemblClinVar. | 1 | |
Natural variantiVAR_006802 | 201 | D → N in GOUT-HPRT; RB. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 69 | K → A: Reduced affinity for hypoxanthine, phosphoribosylpyrophosphate and IMP. Reduced catalytic activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, GoutOrganism-specific databases
DisGeNETi | 3251 |
GeneReviewsi | HPRT1 |
MalaCardsi | HPRT1 |
MIMi | 300322, phenotype 300323, phenotype |
OpenTargetsi | ENSG00000165704 |
Orphaneti | 79233, Hypoxanthine guanine phosphoribosyltransferase partial deficiency 510, Lesch-Nyhan syndrome |
PharmGKBi | PA29427 |
Miscellaneous databases
Pharosi | P00492, Tchem |
Chemistry databases
ChEMBLi | CHEMBL2360 |
DrugBanki | DB03153, 3H-pyrazolo[4,3-d]pyrimidin-7-ol DB02309, 5-monophosphate-9-beta-D-ribofuranosyl xanthine DB01632, 5-O-phosphono-alpha-D-ribofuranosyl diphosphate DB04356, 9-Deazaguanine DB00993, Azathioprine DB01033, Mercaptopurine DB00352, Tioguanine |
DrugCentrali | P00492 |
Genetic variation databases
BioMutai | HPRT1 |
DMDMi | 123497 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000139585 | 2 – 218 | Hypoxanthine-guanine phosphoribosyltransferaseAdd BLAST | 217 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanine1 Publication | 1 | |
Modified residuei | 103 | N6-acetyllysineBy similarity | 1 | |
Cross-linki | 115 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 115 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 142 | PhosphothreonineBy similarity | 1 |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
CPTACi | CPTAC-216 |
EPDi | P00492 |
jPOSTi | P00492 |
MassIVEi | P00492 |
MaxQBi | P00492 |
PaxDbi | P00492 |
PeptideAtlasi | P00492 |
PRIDEi | P00492 |
ProteomicsDBi | 51257 |
TopDownProteomicsi | P00492 |
2D gel databases
OGPi | P00492 |
REPRODUCTION-2DPAGEi | IPI00218493 |
PTM databases
iPTMneti | P00492 |
MetOSitei | P00492 |
PhosphoSitePlusi | P00492 |
SwissPalmi | P00492 |
Expressioni
Gene expression databases
Bgeei | ENSG00000165704, Expressed in oocyte and 242 other tissues |
ExpressionAtlasi | P00492, baseline and differential |
Genevisiblei | P00492, HS |
Organism-specific databases
HPAi | ENSG00000165704, Low tissue specificity |
Interactioni
Subunit structurei
Homotetramer.
4 PublicationsBinary interactionsi
Hide detailsP00492
GO - Molecular functioni
- identical protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 109488, 65 interactors |
IntActi | P00492, 28 interactors |
MINTi | P00492 |
STRINGi | 9606.ENSP00000298556 |
Chemistry databases
BindingDBi | P00492 |
Miscellaneous databases
RNActi | P00492, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P00492 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P00492 |
Family & Domainsi
Sequence similaritiesi
Belongs to the purine/pyrimidine phosphoribosyltransferase family.Curated
Phylogenomic databases
eggNOGi | KOG3367, Eukaryota |
GeneTreei | ENSGT00940000155028 |
HOGENOMi | CLU_073615_3_0_1 |
InParanoidi | P00492 |
OMAi | TMDWMAV |
OrthoDBi | 1537610at2759 |
PhylomeDBi | P00492 |
TreeFami | TF313367 |
Family and domain databases
CDDi | cd06223, PRTases_typeI, 1 hit |
Gene3Di | 3.40.50.2020, 1 hit |
InterProi | View protein in InterPro IPR005904, Hxn_phspho_trans IPR000836, PRibTrfase_dom IPR029057, PRTase-like |
Pfami | View protein in Pfam PF00156, Pribosyltran, 1 hit |
SUPFAMi | SSF53271, SSF53271, 1 hit |
TIGRFAMsi | TIGR01203, HGPRTase, 1 hit |
PROSITEi | View protein in PROSITE PS00103, PUR_PYR_PR_TRANSFER, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P00492-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MATRSPGVVI SDDEPGYDLD LFCIPNHYAE DLERVFIPHG LIMDRTERLA
60 70 80 90 100
RDVMKEMGGH HIVALCVLKG GYKFFADLLD YIKALNRNSD RSIPMTVDFI
110 120 130 140 150
RLKSYCNDQS TGDIKVIGGD DLSTLTGKNV LIVEDIIDTG KTMQTLLSLV
160 170 180 190 200
RQYNPKMVKV ASLLVKRTPR SVGYKPDFVG FEIPDKFVVG YALDYNEYFR
210
DLNHVCVISE TGKAKYKA
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_006750 | 7 | G → D in GOUT-HPRT; Gravesend. | 1 | |
Natural variantiVAR_006751 | 8 | V → G in LNS; HB. | 1 | |
Natural variantiVAR_071609 | 8 | Missing in LNS; Asia. 1 Publication | 1 | |
Natural variantiVAR_006752 | 16 | G → D in LNS; FG. | 1 | |
Natural variantiVAR_006753 | 16 | G → S in GOUT-HPRT; Urangan. Corresponds to variant dbSNP:rs137852499EnsemblClinVar. | 1 | |
Natural variantiVAR_006754 | 20 | D → V in GOUT-HPRT; Mashad; strongly reduces enzymatic activity. 1 Publication | 1 | |
Natural variantiVAR_071610 | 23 | C → F in GOUT-HPRT; Reduces enzymatic activity. 1 Publication | 1 | |
Natural variantiVAR_006755 | 23 | C → W in GOUT-HPRT; JS. | 1 | |
Natural variantiVAR_012312 | 28 | Missing in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_006756 | 41 | L → P in LNS; Detroit. Corresponds to variant dbSNP:rs137852480EnsemblClinVar. | 1 | |
Natural variantiVAR_006757 | 42 | I → F in LNS; Isar. 1 Publication | 1 | |
Natural variantiVAR_006758 | 42 | I → T in LNS; Heapey. | 1 | |
Natural variantiVAR_006759 | 43 – 44 | MD → RN in LNS; Salamanca. | 2 | |
Natural variantiVAR_071611 | 44 | D → Y in LNS; Japan. 1 Publication | 1 | |
Natural variantiVAR_006760 | 45 | R → K in LNS; RJK 2163. 1 PublicationCorresponds to variant dbSNP:rs137852491EnsemblClinVar. | 1 | |
Natural variantiVAR_006761 | 48 | R → H in GOUT-HPRT; AD and DD. Corresponds to variant dbSNP:rs387906725EnsemblClinVar. | 1 | |
Natural variantiVAR_006763 | 50 | A → P in LNS; LW. Corresponds to variant dbSNP:rs1556026984EnsemblClinVar. | 1 | |
Natural variantiVAR_006762 | 50 | A → V in LNS; 1265. 1 Publication | 1 | |
Natural variantiVAR_006764 | 51 | R → G in GOUT-HPRT; Toronto. 1 PublicationCorresponds to variant dbSNP:rs137852494EnsemblClinVar. | 1 | |
Natural variantiVAR_006765 | 51 | R → P in LNS; Banbury. | 1 | |
Natural variantiVAR_006766 | 52 | D → G in Edinburgh. 1 PublicationCorresponds to variant dbSNP:rs137852502EnsemblClinVar. | 1 | |
Natural variantiVAR_006767 | 53 | V → A in GOUT-HPRT; MG. | 1 | |
Natural variantiVAR_006768 | 53 | V → M in GOUT-HPRT; TE. | 1 | |
Natural variantiVAR_006769 | 54 | M → L in LNS; Japan-1. 1 Publication | 1 | |
Natural variantiVAR_006770 | 57 | M → T in LNS; Montreal. 1 PublicationCorresponds to variant dbSNP:rs137852495EnsemblClinVar. | 1 | |
Natural variantiVAR_006771 | 58 | G → R in GOUT-HPRT; Toowong. Corresponds to variant dbSNP:rs137852500EnsemblClinVar. | 1 | |
Natural variantiVAR_071612 | 60 | H → R in GOUT-HPRT; Reduces enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs1228634091Ensembl. | 1 | |
Natural variantiVAR_006772 | 61 | H → R Enzyme activity 37% of normal; asymptomatic. 1 Publication | 1 | |
Natural variantiVAR_071613 | 64 | A → P in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_071614 | 65 | L → P in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_006773 | 70 | G → E in LNS; New Haven/1510, Asia. 3 PublicationsCorresponds to variant dbSNP:rs137852487EnsemblClinVar. | 1 | |
Natural variantiVAR_006774 | 71 | G → R in LNS; Yale. 1 PublicationCorresponds to variant dbSNP:rs137852488EnsemblClinVar. | 1 | |
Natural variantiVAR_071615 | 72 | Y → C in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_006775 | 74 | F → L in LNS; Flint/RJK 892/DW/Perth/1522, Japan. 4 PublicationsCorresponds to variant dbSNP:rs137852481EnsemblClinVar. | 1 | |
Natural variantiVAR_071616 | 78 | L → Q in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_006776 | 78 | L → V in GOUT-HPRT; Swan. Corresponds to variant dbSNP:rs137852501EnsemblClinVar. | 1 | |
Natural variantiVAR_006777 | 80 | D → V in GOUT-HPRT; Arlington. Corresponds to variant dbSNP:rs137852478EnsemblClinVar. | 1 | |
Natural variantiVAR_006778 | 104 | S → R in GOUT-HPRT; Munich. 2 PublicationsCorresponds to variant dbSNP:rs137852485EnsemblClinVar. | 1 | |
Natural variantiVAR_071617 | 107 – 110 | Missing in LNS; Asia. 1 Publication | 4 | |
Natural variantiVAR_006779 | 110 | S → L in GOUT-HPRT; London. 2 PublicationsCorresponds to variant dbSNP:rs137852482EnsemblClinVar. | 1 | |
Natural variantiVAR_071618 | 124 | T → P in GOUT-HPRT; Asia. 1 Publication | 1 | |
Natural variantiVAR_006780 | 130 | V → D in LNS; Midland/RJK 896. 2 PublicationsCorresponds to variant dbSNP:rs137852483EnsemblClinVar. | 1 | |
Natural variantiVAR_006781 | 131 | L → S in LNS; RJK 1784. 1 Publication | 1 | |
Natural variantiVAR_006782 | 132 | I → M in GOUT-HPRT; Ann-Arbor. 1 PublicationCorresponds to variant dbSNP:rs137852477EnsemblClinVar. | 1 | |
Natural variantiVAR_006783 | 132 | I → T in LNS; Runcorn. | 1 | |
Natural variantiVAR_006784 | 135 | D → G in GOUT-HPRT; Yeronga. | 1 | |
Natural variantiVAR_006785 | 143 | M → K in LNS; RJK 1210. 1 PublicationCorresponds to variant dbSNP:rs137852496EnsemblClinVar. | 1 | |
Natural variantiVAR_006786 | 143 | M → MA in LNS; RW. | 1 | |
Natural variantiVAR_071619 | 147 | L → P in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_071620 | 159 | K → E in LNS; Asia. 2 Publications | 1 | |
Natural variantiVAR_071621 | 159 | K → KV in LNS; Asia. 1 Publication | 1 | |
Natural variantiVAR_006787 | 161 | A → S in GOUT-HPRT; Milwaukee/RJK 949. 1 PublicationCorresponds to variant dbSNP:rs137852484EnsemblClinVar. | 1 | |
Natural variantiVAR_006788 | 162 | S → R in LNS; Farnham. | 1 | |
Natural variantiVAR_006789 | 168 | T → I in GOUT-HPRT; Brisbane. 1 PublicationCorresponds to variant dbSNP:rs137852498EnsemblClinVar. | 1 | |
Natural variantiVAR_006790 | 176 | P → L in LNS; Marlow. Corresponds to variant dbSNP:rs137852493EnsemblClinVar. | 1 | |
Natural variantiVAR_006791 | 177 | D → V in LNS; Roanne. 1 Publication | 1 | |
Natural variantiVAR_006792 | 177 | D → Y in LNS; RJK 2185. 1 PublicationCorresponds to variant dbSNP:rs137852492EnsemblClinVar. | 1 | |
Natural variantiVAR_006794 | 179 – 180 | VG → GR in GOUT-HPRT; Japan-2. | 2 | |
Natural variantiVAR_006793 | 179 | Missing in LNS; Michigan. | 1 | |
Natural variantiVAR_006796 | 183 | I → T in GOUT-HPRT; JF. 1 Publication | 1 | |
Natural variantiVAR_071622 | 185 | D → G in GOUT-HPRT; Asia. 1 Publication | 1 | |
Natural variantiVAR_006795 | 188 | V → A in GOUT-HPRT AND LNS; Asia. 3 Publications | 1 | |
Natural variantiVAR_071623 | 192 | A → V in GOUT-HPRT; Asia. 2 Publications | 1 | |
Natural variantiVAR_006797 | 194 | D → E in GOUT-HPRT; Moose-Jaw; results in cooperativity and decreased substrate affinities. 1 PublicationCorresponds to variant dbSNP:rs137852504EnsemblClinVar. | 1 | |
Natural variantiVAR_006798 | 194 | D → N in LNS; Kinston/RJK 2188. 2 PublicationsCorresponds to variant dbSNP:rs267606863EnsemblClinVar. | 1 | |
Natural variantiVAR_006799 | 195 | Y → C in GOUT-HPRT; Dirranbandi, Asia. 2 Publications | 1 | |
Natural variantiVAR_006800 | 199 | F → V in LNS; New Briton/RJK 950. 1 PublicationCorresponds to variant dbSNP:rs137852486EnsemblClinVar. | 1 | |
Natural variantiVAR_006801 | 201 | D → G in GOUT-HPRT; Ashville. 1 PublicationCorresponds to variant dbSNP:rs137852479EnsemblClinVar. | 1 | |
Natural variantiVAR_006802 | 201 | D → N in GOUT-HPRT; RB. | 1 | |
Natural variantiVAR_006803 | 201 | D → Y in LNS; GM. | 1 | |
Natural variantiVAR_006804 | 204 | H → D in LNS; RJK 1874. 1 PublicationCorresponds to variant dbSNP:rs137852490EnsemblClinVar. | 1 | |
Natural variantiVAR_006805 | 204 | H → R in LNS; 779. 1 Publication | 1 | |
Natural variantiVAR_006806 | 206 | C → Y in LNS; Reading/RJK 1727. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M31642 mRNA Translation: AAA52690.1 M26434 Genomic DNA Translation: AAA36012.1 AK313435 mRNA Translation: BAG36226.1 BT019350 mRNA Translation: AAV38157.1 AY780550 Genomic DNA Translation: AAV31777.1 AC004383 Genomic DNA No translation available. CH471107 Genomic DNA Translation: EAX11761.1 BC000578 mRNA Translation: AAH00578.1 M12452 Genomic DNA Translation: AAA52691.1 S79313 Genomic DNA Translation: AAB21289.1 L29383 mRNA Translation: AAB59391.1 L29382 mRNA Translation: AAB59392.1 S60300 mRNA Translation: AAC60591.2 |
CCDSi | CCDS14641.1 |
PIRi | A32728, RTHUG |
RefSeqi | NP_000185.1, NM_000194.2 |
Genome annotation databases
Ensembli | ENST00000298556; ENSP00000298556; ENSG00000165704 |
GeneIDi | 3251 |
KEGGi | hsa:3251 |
UCSCi | uc004exl.5, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Wikipedia Hypoxanthine-guanine phosphoribosyltransferase entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M31642 mRNA Translation: AAA52690.1 M26434 Genomic DNA Translation: AAA36012.1 AK313435 mRNA Translation: BAG36226.1 BT019350 mRNA Translation: AAV38157.1 AY780550 Genomic DNA Translation: AAV31777.1 AC004383 Genomic DNA No translation available. CH471107 Genomic DNA Translation: EAX11761.1 BC000578 mRNA Translation: AAH00578.1 M12452 Genomic DNA Translation: AAA52691.1 S79313 Genomic DNA Translation: AAB21289.1 L29383 mRNA Translation: AAB59391.1 L29382 mRNA Translation: AAB59392.1 S60300 mRNA Translation: AAC60591.2 |
CCDSi | CCDS14641.1 |
PIRi | A32728, RTHUG |
RefSeqi | NP_000185.1, NM_000194.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1BZY | X-ray | 2.00 | A/B/C/D | 2-218 | [»] | |
1D6N | X-ray | 2.70 | A/B | 5-218 | [»] | |
1HMP | X-ray | 2.50 | A/B | 2-218 | [»] | |
1Z7G | X-ray | 1.90 | A/B/C/D | 2-218 | [»] | |
2VFA | X-ray | 2.80 | A/B | 49-160 | [»] | |
3GEP | X-ray | 2.60 | A/B | 2-218 | [»] | |
3GGC | X-ray | 2.78 | A/B | 2-218 | [»] | |
3GGJ | X-ray | 2.60 | A/B | 2-218 | [»] | |
4IJQ | X-ray | 2.00 | A/B/C/D | 2-218 | [»] | |
4KN6 | X-ray | 2.73 | A | 3-218 | [»] | |
4RAB | X-ray | 2.26 | A/B/C/D | 2-218 | [»] | |
4RAC | X-ray | 2.05 | A/B/C/D | 2-218 | [»] | |
4RAD | X-ray | 2.00 | A/B/C/D/E/F/G/H | 2-218 | [»] | |
4RAN | X-ray | 2.55 | A/B/C/D | 2-218 | [»] | |
4RAO | X-ray | 1.87 | A/B/C/D | 2-218 | [»] | |
4RAQ | X-ray | 2.53 | A/B/C/D | 2-218 | [»] | |
5BRN | X-ray | 2.30 | A/B/C/D | 1-218 | [»] | |
5BSK | X-ray | 2.61 | A/B/C/D | 1-218 | [»] | |
5HIA | X-ray | 1.77 | A/B/C/D | 1-218 | [»] | |
5W8V | X-ray | 2.35 | A/B/C/D | 5-218 | [»] | |
6BNJ | X-ray | 1.91 | A/B/C/D | 1-218 | [»] | |
SMRi | P00492 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109488, 65 interactors |
IntActi | P00492, 28 interactors |
MINTi | P00492 |
STRINGi | 9606.ENSP00000298556 |
Chemistry databases
BindingDBi | P00492 |
ChEMBLi | CHEMBL2360 |
DrugBanki | DB03153, 3H-pyrazolo[4,3-d]pyrimidin-7-ol DB02309, 5-monophosphate-9-beta-D-ribofuranosyl xanthine DB01632, 5-O-phosphono-alpha-D-ribofuranosyl diphosphate DB04356, 9-Deazaguanine DB00993, Azathioprine DB01033, Mercaptopurine DB00352, Tioguanine |
DrugCentrali | P00492 |
PTM databases
iPTMneti | P00492 |
MetOSitei | P00492 |
PhosphoSitePlusi | P00492 |
SwissPalmi | P00492 |
Genetic variation databases
BioMutai | HPRT1 |
DMDMi | 123497 |
2D gel databases
OGPi | P00492 |
REPRODUCTION-2DPAGEi | IPI00218493 |
Proteomic databases
CPTACi | CPTAC-216 |
EPDi | P00492 |
jPOSTi | P00492 |
MassIVEi | P00492 |
MaxQBi | P00492 |
PaxDbi | P00492 |
PeptideAtlasi | P00492 |
PRIDEi | P00492 |
ProteomicsDBi | 51257 |
TopDownProteomicsi | P00492 |
Protocols and materials databases
Antibodypediai | 1912, 573 antibodies |
DNASUi | 3251 |
Genome annotation databases
Ensembli | ENST00000298556; ENSP00000298556; ENSG00000165704 |
GeneIDi | 3251 |
KEGGi | hsa:3251 |
UCSCi | uc004exl.5, human |
Organism-specific databases
CTDi | 3251 |
DisGeNETi | 3251 |
GeneCardsi | HPRT1 |
GeneReviewsi | HPRT1 |
HGNCi | HGNC:5157, HPRT1 |
HPAi | ENSG00000165704, Low tissue specificity |
MalaCardsi | HPRT1 |
MIMi | 300322, phenotype 300323, phenotype 308000, gene |
neXtProti | NX_P00492 |
OpenTargetsi | ENSG00000165704 |
Orphaneti | 79233, Hypoxanthine guanine phosphoribosyltransferase partial deficiency 510, Lesch-Nyhan syndrome |
PharmGKBi | PA29427 |
VEuPathDBi | HostDB:ENSG00000165704.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3367, Eukaryota |
GeneTreei | ENSGT00940000155028 |
HOGENOMi | CLU_073615_3_0_1 |
InParanoidi | P00492 |
OMAi | TMDWMAV |
OrthoDBi | 1537610at2759 |
PhylomeDBi | P00492 |
TreeFami | TF313367 |
Enzyme and pathway databases
UniPathwayi | UPA00591;UER00648 |
BioCyci | MetaCyc:HS09275-MONOMER |
BRENDAi | 2.4.2.8, 2681 |
PathwayCommonsi | P00492 |
Reactomei | R-HSA-74217, Purine salvage |
SABIO-RKi | P00492 |
Miscellaneous databases
BioGRID-ORCSi | 3251, 9 hits in 506 CRISPR screens |
ChiTaRSi | HPRT1, human |
EvolutionaryTracei | P00492 |
GeneWikii | Hypoxanthine-guanine_phosphoribosyltransferase |
GenomeRNAii | 3251 |
Pharosi | P00492, Tchem |
PROi | PR:P00492 |
RNActi | P00492, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165704, Expressed in oocyte and 242 other tissues |
ExpressionAtlasi | P00492, baseline and differential |
Genevisiblei | P00492, HS |
Family and domain databases
CDDi | cd06223, PRTases_typeI, 1 hit |
Gene3Di | 3.40.50.2020, 1 hit |
InterProi | View protein in InterPro IPR005904, Hxn_phspho_trans IPR000836, PRibTrfase_dom IPR029057, PRTase-like |
Pfami | View protein in Pfam PF00156, Pribosyltran, 1 hit |
SUPFAMi | SSF53271, SSF53271, 1 hit |
TIGRFAMsi | TIGR01203, HGPRTase, 1 hit |
PROSITEi | View protein in PROSITE PS00103, PUR_PYR_PR_TRANSFER, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HPRT_HUMAN | |
Accessioni | P00492Primary (citable) accession number: P00492 Secondary accession number(s): A6NHF0, B2R8M9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 226 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families