HUMAN:HPRT

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Species (Taxon ID)	Homo sapiens (Human). ([1])
Gene Name(s)	HPRT1 (synonyms: HPRT)
Protein Name(s)	Hypoxanthine-guanine phosphoribosyltransferase HGPRT HGPRTase
External Links
EMBL	M31642 M26434 AK313435 BT019350 AY780550 AC004383 CH471107 BC000578 M12452 S79313 L29383 L29382 S60300
IPI	IPI00218493
PIR	A32728
RefSeq	NP_000185.1
UniGene	Hs.412707
PDB	1BZY 1D6N 1HMP 1Z7G 2VFA 3GEP 3GGC 3GGJ
PDBsum	1BZY 1D6N 1HMP 1Z7G 2VFA 3GEP 3GGC 3GGJ
ProteinModelPortal	P00492
SMR	P00492
IntAct	P00492
MINT	MINT-1443310
STRING	P00492
OGP	P00492
REPRODUCTION-2DPAGE	IPI00218493
PeptideAtlas	P00492
PRIDE	P00492
Ensembl	ENST00000298556
GeneID	3251
KEGG	hsa:3251
UCSC	uc004exl.2
CTD	3251
GeneCards	GC0XP122992
H-InvDB	HIX0017063
HGNC	HGNC:5157
HPA	CAB012200 HPA006360
MIM	300322 300323 308000
neXtProt	NX_P00492
Orphanet	79233 510
PharmGKB	PA29427
eggNOG	prNOG04042
HOGENOM	HBG536385
HOVERGEN	HBG000242
OMA	CIDRYIF
OrthoDB	EOG4H72CM
PhylomeDB	P00492
BioCyc	MetaCyc:MONOMER-15236
BRENDA	2.4.2.8
Reactome	REACT_1698
DrugBank	DB01033 DB00352
NextBio	12927
ArrayExpress	P00492
Bgee	P00492
CleanEx	HS_HPRT1
Genevestigator	P00492
GermOnline	ENSG00000165704
GO	GO:0005829 GO:0052657 GO:0004422 GO:0000287 GO:0042803 GO:0006168 GO:0021954 GO:0021895 GO:0019835 GO:0048813 GO:0046038 GO:0032263 GO:0007625 GO:0006178 GO:0043103 GO:0032264 GO:0046651 GO:0045964 GO:0051289 GO:0006166 GO:0001975 GO:0021756
InterPro	IPR005904 IPR000836
Pfam	PF00156
TIGRFAMs	TIGR01203
PROSITE	PS00103

Annotations

Qualifier	GO ID	GO term name	Reference(s)	Evidence Code	with/from	Aspect
	GO:0000166	nucleotide binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0547	F
	GO:0000287	magnesium ion binding	PMID:10360366^[1]	IDA: Inferred from Direct Assay		F
	GO:0001975	response to amphetamine	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0001975	response to amphetamine	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN211	P
	GO:0004422	hypoxanthine phosphoribosyltransferase activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR005904	F
	GO:0004422	hypoxanthine phosphoribosyltransferase activity	GO_REF:0000003	IEA: Inferred from Electronic Annotation	EC:2.4.2.8	F
	GO:0004422	hypoxanthine phosphoribosyltransferase activity	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	F
	GO:0004422	hypoxanthine phosphoribosyltransferase activity	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000043388	F
	GO:0004422	hypoxanthine phosphoribosyltransferase activity	PMID:19527031^[2]	IDA: Inferred from Direct Assay		F
	GO:0004422	hypoxanthine phosphoribosyltransferase activity	PMID:6300847^[3]	EXP: Inferred from Experiment		F
	GO:0004422	hypoxanthine phosphoribosyltransferase activity	PMID:6300847^[3]	IDA: Inferred from Direct Assay		F
	GO:0004422	hypoxanthine phosphoribosyltransferase activity	PMID:9521733^[4]	IDA: Inferred from Direct Assay		F
	GO:0005515	protein binding	PMID:16189514^[5]	IPI: Inferred from Physical Interaction	UniProtKB:Q96HA8	F
	GO:0005515	protein binding	PMID:17353931^[6]	IPI: Inferred from Physical Interaction	UniProtKB:O60739	F
	GO:0005515	protein binding	PMID:17353931^[6]	IPI: Inferred from Physical Interaction	UniProtKB:O60921	F
	GO:0005515	protein binding	PMID:17353931^[6]	IPI: Inferred from Physical Interaction	UniProtKB:P23508	F
	GO:0005625	soluble fraction	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000043388	C
	GO:0005737	cytoplasm	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR005904	C
	GO:0005737	cytoplasm	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0963	C
	GO:0005737	cytoplasm	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	C
	GO:0005737	cytoplasm	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0086	C
	GO:0005737	cytoplasm	PMID:18029348^[7]	IDA: Inferred from Direct Assay		C
	GO:0005737	cytoplasm	PMID:6300847^[3]	IDA: Inferred from Direct Assay		C
	GO:0005829	cytosol	PMID:6300847^[3]	EXP: Inferred from Experiment		C
	GO:0006144	purine base metabolic process	Reactome:REACT_522	TAS: Traceable Author Statement		P
	GO:0006164	purine nucleotide biosynthetic process	PMID:9824441^[8]	IMP: Inferred from Mutant Phenotype		P
	GO:0006166	purine ribonucleoside salvage	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR005904	P
	GO:0006166	purine ribonucleoside salvage	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0660	P
	GO:0006166	purine ribonucleoside salvage	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0006166	purine ribonucleoside salvage	PMID:9824441^[8]	IMP: Inferred from Mutant Phenotype		P
	GO:0006168	adenine salvage	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0006168	adenine salvage	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN204	P
	GO:0006178	guanine salvage	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0006178	guanine salvage	PMID:19527031^[2]	IDA: Inferred from Direct Assay		P
	GO:0007283	spermatogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000043388	P
	GO:0007610	behavior	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0007610	behavior	PMID:16138897^[9]	IMP: Inferred from Mutant Phenotype		P
	GO:0007625	grooming behavior	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0007625	grooming behavior	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN211	P
	GO:0009116	nucleoside metabolic process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000836	P
	GO:0016740	transferase activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0808	F
	GO:0016757	transferase activity, transferring glycosyl groups	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0328	F
	GO:0019835	cytolysis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0019835	cytolysis	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN211	P
	GO:0021756	striatum development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0021756	striatum development	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN211	P
	GO:0021895	cerebral cortex neuron differentiation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0021895	cerebral cortex neuron differentiation	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN211	P
	GO:0021954	central nervous system neuron development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0021954	central nervous system neuron development	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN211	P
	GO:0032263	GMP salvage	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN204	P
	GO:0032264	IMP salvage	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN204	P
	GO:0042417	dopamine metabolic process	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0042802	identical protein binding	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	F
	GO:0042803	protein homodimerization activity	PMID:8044844^[10]	IPI: Inferred from Physical Interaction	UniProtKB:P00492	F
	GO:0043101	purine-containing compound salvage	Reactome:REACT_1923	TAS: Traceable Author Statement		P
	GO:0043103	hypoxanthine salvage	PMID:19527031^[2]	IDA: Inferred from Direct Assay		P
	GO:0045964	positive regulation of dopamine metabolic process	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0045964	positive regulation of dopamine metabolic process	PMID:8643611^[11]	IMP: Inferred from Mutant Phenotype		P
	GO:0046038	GMP catabolic process	PMID:19527031^[2]	IDA: Inferred from Direct Assay		P
	GO:0046040	IMP metabolic process	PMID:19527031^[2]	IDA: Inferred from Direct Assay		P
	GO:0046083	adenine metabolic process	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0046100	hypoxanthine metabolic process	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0046100	hypoxanthine metabolic process	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000043388	P
	GO:0046100	hypoxanthine metabolic process	PMID:9824441^[8]	IMP: Inferred from Mutant Phenotype		P
	GO:0046651	lymphocyte proliferation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0046651	lymphocyte proliferation	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN211	P
	GO:0046872	metal ion binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0479	F
	GO:0048813	dendrite morphogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000026723	P
	GO:0048813	dendrite morphogenesis	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN211	P
	GO:0051289	protein homotetramerization	PMID:15990111^[12]	IPI: Inferred from Physical Interaction	UniProtKB:P00492	P
	GO:0051289	protein homotetramerization	PMID:9521733^[4]	IDA: Inferred from Direct Assay		P
	GO:0052657	guanine phosphoribosyltransferase activity	GO_REF:0000003	IEA: Inferred from Electronic Annotation	EC:2.4.2.8	F
	GO:0052657	guanine phosphoribosyltransferase activity	PMID:19527031^[2]	IDA: Inferred from Direct Assay		F
	GO:0055086	nucleobase, nucleoside and nucleotide metabolic process	Reactome:REACT_1698	TAS: Traceable Author Statement		P
	GO:0004614	phosphoglucomutase activity	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN204	F
	GO:0019255	glucose 1-phosphate metabolic process	GO_REF:0000033	ISS: Inferred from Sequence or Structural Similarity	PANTHER:PTHR22573_AN204	P
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Shi W et al. (1999) The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor. Nat Struct Biol 6: 588-93 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 Keough DT et al. (2009) Inhibition of hypoxanthine-guanine phosphoribosyltransferase by acyclic nucleoside phosphonates: a new class of antimalarial therapeutics. J Med Chem 52: 4391-9 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Jolly DJ et al. (1983) Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase. Proc Natl Acad Sci U S A 80: 477-81 PubMed GONUTS page
↑ ^4.0 ^4.1 Xu Y & Grubmeyer C (1998) Catalysis in human hypoxanthine-guanine phosphoribosyltransferase: Asp 137 acts as a general acid/base. Biochemistry 37: 4114-24 PubMed GONUTS page
↑ Rual JF et al. (2005) Towards a proteome-scale map of the human protein-protein interaction network. Nature 437: 1173-8 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 Ewing RM et al. (2007) Large-scale mapping of human protein-protein interactions by mass spectrometry. Mol Syst Biol 3: 89 PubMed GONUTS page
↑ Barbe L et al. (2008) Toward a confocal subcellular atlas of the human proteome. Mol Cell Proteomics 7: 499-508 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 Puig JG et al. (1998) Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency. Eur J Clin Invest 28: 950-7 PubMed GONUTS page
↑ Cauwels RG & Martens LC (2005) Self-mutilation behaviour in Lesch-Nyhan syndrome. J Oral Pathol Med 34: 573-5 PubMed GONUTS page
↑ Eads JC et al. (1994) The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. Cell 78: 325-34 PubMed GONUTS page
↑ Wong DF et al. (1996) Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci U S A 93: 5539-43 PubMed GONUTS page
↑ Keough DT et al. (2005) The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle. J Mol Biol 351: 170-81 PubMed GONUTS page

[PMID:10360366-0] Shi W et al. (1999) The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor. Nat Struct Biol 6: 588-93 PubMed GONUTS page

[PMID:19527031-1] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 Keough DT et al. (2009) Inhibition of hypoxanthine-guanine phosphoribosyltransferase by acyclic nucleoside phosphonates: a new class of antimalarial therapeutics. J Med Chem 52: 4391-9 PubMed GONUTS page

[PMID:6300847-2] 3.0 ^3.1 ^3.2 ^3.3 Jolly DJ et al. (1983) Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase. Proc Natl Acad Sci U S A 80: 477-81 PubMed GONUTS page

[PMID:9521733-3] 4.0 ^4.1 Xu Y & Grubmeyer C (1998) Catalysis in human hypoxanthine-guanine phosphoribosyltransferase: Asp 137 acts as a general acid/base. Biochemistry 37: 4114-24 PubMed GONUTS page

[PMID:16189514-4] Rual JF et al. (2005) Towards a proteome-scale map of the human protein-protein interaction network. Nature 437: 1173-8 PubMed GONUTS page

[PMID:17353931-5] 6.0 ^6.1 ^6.2 Ewing RM et al. (2007) Large-scale mapping of human protein-protein interactions by mass spectrometry. Mol Syst Biol 3: 89 PubMed GONUTS page

[PMID:18029348-6] Barbe L et al. (2008) Toward a confocal subcellular atlas of the human proteome. Mol Cell Proteomics 7: 499-508 PubMed GONUTS page

[PMID:9824441-7] 8.0 ^8.1 ^8.2 Puig JG et al. (1998) Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency. Eur J Clin Invest 28: 950-7 PubMed GONUTS page

[PMID:16138897-8] Cauwels RG & Martens LC (2005) Self-mutilation behaviour in Lesch-Nyhan syndrome. J Oral Pathol Med 34: 573-5 PubMed GONUTS page

[PMID:8044844-9] Eads JC et al. (1994) The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. Cell 78: 325-34 PubMed GONUTS page

[PMID:8643611-10] Wong DF et al. (1996) Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci U S A 93: 5539-43 PubMed GONUTS page

[PMID:15990111-11] Keough DT et al. (2005) The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle. J Mol Biol 351: 170-81 PubMed GONUTS page

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HUMAN:HPRT

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