Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Hypoxanthine Phosphoribosyltransferase
Synonyms	IMP:pyrophosphate phospho-D-ribosyltransferase HPRT Phosphoribosyltransferase, Hypoxanthine-Guanine IMP Pyrophosphorylase Hypoxanthine-Guanine Phosphoribosyltransferase Phosphoribosyltransferase, Guanine Pyrophosphorylase, IMP HPRTase HGPRT Guanine Phosphoribosyltransferase Phosphoribosyltransferase, Hypoxanthine Hypoxanthine Guanine Phosphoribosyltransferase
Definitions	An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or MERCAPTOPURINE to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.
ID	http://purl.bioontology.org/ontology/MESH/D007041
altLabel	IMP:pyrophosphate phospho-D-ribosyltransferase HPRT Phosphoribosyltransferase, Hypoxanthine-Guanine IMP Pyrophosphorylase Hypoxanthine-Guanine Phosphoribosyltransferase Phosphoribosyltransferase, Guanine Pyrophosphorylase, IMP HPRTase HGPRT Guanine Phosphoribosyltransferase Phosphoribosyltransferase, Hypoxanthine Hypoxanthine Guanine Phosphoribosyltransferase
AN	/defic: consider also LESCH-NYHAN SYNDROME or GOUT
AQL	AD AE AI AN BI BL CF CH CL CS DE DF EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR
cui	C0020687
DC	1
definition	An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or MERCAPTOPURINE to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.
DX	19750901
FX	D006073 D007926
HN	75; GUANINE PHOSPHORIBOSYLTRANSFERASE was GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1978-91
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000096 http://purl.bioontology.org/ontology/MESH/Q000172 http://purl.bioontology.org/ontology/MESH/Q000627 http://purl.bioontology.org/ontology/MESH/Q000648 http://purl.bioontology.org/ontology/MESH/Q000493 http://purl.bioontology.org/ontology/MESH/Q000494 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000138 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000008 http://purl.bioontology.org/ontology/MESH/Q000009 http://purl.bioontology.org/ontology/MESH/Q000032 http://purl.bioontology.org/ontology/MESH/Q000037 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000302 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000592 http://purl.bioontology.org/ontology/MESH/Q000737 http://purl.bioontology.org/ontology/MESH/Q000502 http://purl.bioontology.org/ontology/MESH/Q000506 http://purl.bioontology.org/ontology/MESH/Q000187 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000633 http://purl.bioontology.org/ontology/MESH/Q000600 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000528
Inverse of RB	EC 2.4.2.8
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D006073 http://purl.bioontology.org/ontology/MESH/D007926
Machine permutation	75; GUANINE PHOSPHORIBOSYLTRANSFERASE was indexed under PENTOSYLTRANSFERASES 1978-91
Mapped from	http://purl.bioontology.org/ontology/MESH/C554253 http://purl.bioontology.org/ontology/MESH/C562583
MDA	19741111
MMR	20190524
MN	D08.811.913.400.725.450
notation	D007041
OL	use HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE (NM) to search GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1980-91
prefLabel	Hypoxanthine Phosphoribosyltransferase
RR	9016-12-0 (CAS RN)
TERMUI	T021079 T021074 T021075 T021080 T021077 T021078 T021076
TH	NLM (1975) NLM (1994) NLM (1992) UNK (19XX) NLM (1998)
tui	T116 T126
subClassOf	http://purl.bioontology.org/ontology/MESH/D010430

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/65889008	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/F-68BB0	SNMI	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000168365	NDFRT	CUI
http://purl.bioontology.org/ontology/CSP/1335-2617	CRISP	CUI
http://purl.bioontology.org/ontology/LNC/LP15652-8	LOINC	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007041	MSHFRE	CUI
http://purl.bioontology.org/ontology/LNC/MTHU033976	LOINC	CUI
http://purl.bioontology.org/ontology/RCD/X80Lu	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/65889008	SNOMEDCT	CUI
http://purl.obolibrary.org/obo/PR_000022921	PR	LOOM
http://purl.obolibrary.org/obo/PR_000022921	NIFSTD	LOOM
http://purl.bioontology.org/ontology/SNMI/F-68BB0	SNMI	LOOM
http://purl.obolibrary.org/obo/OMIT_0008174	OMIT	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020755	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/dinto_2882	DINTO	LOOM
http://purl.bioontology.org/ontology/CSP/1335-2617	CRISP	LOOM
http://purl.bioontology.org/ontology/LNC/LP15652-8	LOINC	LOOM
http://purl.jp/bio/4/id/200906032860106880	IOBC	LOOM
http://id.nlm.nih.gov/mesh/D007041	MDM	LOOM
http://purl.obolibrary.org/obo/MESH_D007041	BERO	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU033976	LOINC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007041	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.913.400.725.450	RH-MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/65889008	SNOMEDCT	LOOM