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HPRT1 (human)

Overview HPRT1 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. Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS). LNS is characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation. Defects in HPRT1 are the cause of gout HPRT-related (GOUT-HPRT); also known as HPRT-related gout or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia. Belongs to the purine/pyrimidine phosphoribosyltransferase family. Note: This description may include information from UniProtKB. Protein type: Transferase; Nucleotide Metabolism - purine; Cell development/differentiation; Xenobiotic Metabolism - drug metabolism - other enzymes; EC 2.4.2.8 Cellular Component: cytoplasm; cytosol Molecular Function: protein binding; protein homodimerization activity; magnesium ion binding; hypoxanthine phosphoribosyltransferase activity; nucleotide binding Biological Process: hypoxanthine metabolic process; IMP salvage; cytolysis; behavior; adenine salvage; dopamine metabolic process; purine salvage; protein homotetramerization; cerebral cortex neuron differentiation; IMP metabolic process; hypoxanthine salvage; central nervous system neuron development; grooming behavior; lymphocyte proliferation; striatum development; nucleobase, nucleoside and nucleotide metabolic process; GMP salvage; dendrite morphogenesis; response to amphetamine; purine nucleotide biosynthetic process; purine base metabolic process; GMP catabolic process; positive regulation of dopamine metabolic process; spermatogenesis; purine ribonucleoside salvage; guanine salvage Reference #:  P00492 (UniProtKB) Alt. Names/Synonyms: HGPRT; HGPRTase; HPRT; HPRT1; hypoxanthine phosphoribosyltransferase 1; Hypoxanthine-guanine phosphoribosyltransferase Gene Symbols: HPRT1 Molecular weight: 24,579 Da Basal Isoelectric point: 6.21  Predict pI for various phosphorylation states

Select Structure to View Below HPRT1 1BZY - A/D/C/B=1-217 (human) 1D6N - A/B=4-217 (human) 1HMP - A/B=1-217 (human) 1Z7G - A/D/C/B=1-217 (human) 2VFA - A/B=49-160 (human) 3GEP - A/B=2-218 (human) 3GGC - A/B=2-218 (human) 3GGJ - A/B=2-218 (human) 4IJQ - A/D/C/B=2-218 (human)

STRING  |  Scansite  |  Phospho.ELM  |  Pfam  |  RCSB PDB 1BZY 1D6N 1HMP 1Z7G 2VFA 3GEP 3GGC 3GGJ 4IJQ  |  ENZYME  |  Phospho3D  |  DISEASE 300322 300323 308000  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	4		S11-p	RSPGVVIsDDEPGYD
0	1		K83	ADLLDYIKALNRNSD
0	1		S92-p	LNRNSDRsIPMtVDF
0	1		T96-p	SDRsIPMtVDFIRLK
0	1		K103	tVDFIRLKSYCNDQS
0	4		K115-u	DQSTGDIkVIGGDDL
0	3		K128	DLSTLTGKNVLIVED
0	1		T145-p	DTGKTMQtLLSLVRQ
0	1		S148	KTMQtLLSLVRQYNP
0	13		R151	QtLLSLVRQYNPKMV
0	2		K156	LVRQYNPKMVkVASL
0	8		K159-u	QYNPKMVkVASLLVK
0	4		K175-u	TPRSVGYkPDFVGFE

	mouse
S11-p	RSPSVVIsDDEPGYD
K83-u	ADLLDYIkALNRNSD
S92	LNRNSDRSIPMTVDF
T96	SDRSIPMTVDFIRLk
K103-u	TVDFIRLkSYCNDQS
K115-u	DQSTGDIkVIGGDDL
K128-u	DLSTLTGkNVLIVED
T145	DTGKTMQTLLsLVkQ
S148-p	KTMQTLLsLVkQYSP
K151-u	QTLLsLVkQYSPkMV
K156-u	LVkQYSPkMVkVASL
K159-u	QYSPkMVkVASLLVK
R175	TSRSVGYRPDFVGFE

	rat
S11	LSPSVVISDDEPGYD
K83	ADLLDYIKALNRNSD
S92	LNRNSDRSIPMTVDF
T96	SDRSIPMTVDFIRLK
K103	TVDFIRLKSYCNDQS
K115-u	DQSTGDIkVIGGDDL
K128	DLSTLTGKNVLIVED
T145	DTGKTMQTLLSLVkQ
S148	KTMQTLLSLVkQYSP
K151-u	QTLLSLVkQYSPkMV
K156-u	LVkQYSPkMVKVASL
K159	QYSPkMVKVASLLVK
R175	TSRSVGYRPDFVGFE

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