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UniProtKB - P00492 (HPRT_HUMAN)

Entry version 228 (02 Jun 2021)
Sequence version 2 (23 Jan 2007)
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Protein

Hypoxanthine-guanine phosphoribosyltransferase

Gene

HPRT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>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.

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=5.4 µM for IMP1 Publication
  2. KM=0.45 µM for hypoxanthine1 Publication
  3. KM=25 µM for pyrophosphate1 Publication
  4. KM=31 µM for phosphoribosylpyrophosphate1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: IMP biosynthesis via salvage pathway

    This protein is involved in step 1 of the subpathway that synthesizes IMP from hypoxanthine. This subpathway is part of the pathway IMP biosynthesis via salvage pathway, which is itself part of Purine metabolism.
    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 keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei69GMP1 Publication1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei138Proton acceptorCurated1
    Binding sitei166GMP1 Publication1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi194Magnesium1
    Binding sitei194GMP; via carbonyl oxygen1 Publication1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi134 – 142GMP1 Publication9
    Nucleotide bindingi186 – 188GMP1 Publication3

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionGlycosyltransferase, Transferase
    Biological processPurine salvage
    LigandMagnesium, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...    BioCyci    		MetaCyc:HS09275-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...    BRENDAi    		2.4.2.8, 2681

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		P00492

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-74217, Purine salvage

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		P00492

    UniPathway: a resource for the exploration and annotation of metabolic pathways

    More...    UniPathwayi    		UPA00591;UER00648

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Hypoxanthine-guanine phosphoribosyltransferase (EC:2.4.2.82 Publications)
    Short name:
    HGPRT
    Short name:
    HGPRTase
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:HPRT1
    Synonyms:HPRT
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

    Organism-specific databases

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:5157, HPRT1

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		308000, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_P00492

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...    VEuPathDBi    		HostDB:ENSG00000165704.14

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Keywords - Cellular componenti

    Cytoplasm

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0067518V → G in LNS; HB. 1
    Natural variantiVAR_0716098Missing in LNS; Asia. 1 Publication1
    Natural variantiVAR_00675216G → D in LNS; FG. 1
    Natural variantiVAR_01231228Missing in LNS; Asia. 2 Publications1
    Natural variantiVAR_00675641L → P in LNS; Detroit. Corresponds to variant dbSNP:rs137852480EnsemblClinVar.1
    Natural variantiVAR_00675742I → F in LNS; Isar. 1 Publication1
    Natural variantiVAR_00675842I → T in LNS; Heapey. 1
    Natural variantiVAR_00675943 – 44MD → RN in LNS; Salamanca. 2
    Natural variantiVAR_07161144D → Y in LNS; Japan. 1 Publication1
    Natural variantiVAR_00676045R → K in LNS; RJK 2163. 1 PublicationCorresponds to variant dbSNP:rs137852491EnsemblClinVar.1
    Natural variantiVAR_00676350A → P in LNS; LW. Corresponds to variant dbSNP:rs1556026984EnsemblClinVar.1
    Natural variantiVAR_00676250A → V in LNS; 1265. 1 Publication1
    Natural variantiVAR_00676551R → P in LNS; Banbury. 1
    Natural variantiVAR_00676954M → L in LNS; Japan-1. 1 Publication1
    Natural variantiVAR_00677057M → T in LNS; Montreal. 1 PublicationCorresponds to variant dbSNP:rs137852495EnsemblClinVar.1
    Natural variantiVAR_07161364A → P in LNS; Asia. 2 Publications1
    Natural variantiVAR_07161465L → P in LNS; Asia. 2 Publications1
    Natural variantiVAR_00677370G → E in LNS; New Haven/1510, Asia. 3 PublicationsCorresponds to variant dbSNP:rs137852487EnsemblClinVar.1
    Natural variantiVAR_00677471G → R in LNS; Yale. 1 PublicationCorresponds to variant dbSNP:rs137852488EnsemblClinVar.1
    Natural variantiVAR_07161572Y → C in LNS; Asia. 2 Publications1
    Natural variantiVAR_00677574F → L in LNS; Flint/RJK 892/DW/Perth/1522, Japan. 4 PublicationsCorresponds to variant dbSNP:rs137852481EnsemblClinVar.1
    Natural variantiVAR_07161678L → Q in LNS; Asia. 2 Publications1
    Natural variantiVAR_071617107 – 110Missing in LNS; Asia. 1 Publication4
    Natural variantiVAR_006780130V → D in LNS; Midland/RJK 896. 2 PublicationsCorresponds to variant dbSNP:rs137852483EnsemblClinVar.1
    Natural variantiVAR_006781131L → S in LNS; RJK 1784. 1 Publication1
    Natural variantiVAR_006783132I → T in LNS; Runcorn. 1
    Natural variantiVAR_006785143M → K in LNS; RJK 1210. 1 PublicationCorresponds to variant dbSNP:rs137852496EnsemblClinVar.1
    Natural variantiVAR_006786143M → MA in LNS; RW. 1
    Natural variantiVAR_071619147L → P in LNS; Asia. 2 Publications1
    Natural variantiVAR_071620159K → E in LNS; Asia. 2 Publications1
    Natural variantiVAR_071621159K → KV in LNS; Asia. 1 Publication1
    Natural variantiVAR_006788162S → R in LNS; Farnham. 1
    Natural variantiVAR_006790176P → L in LNS; Marlow. Corresponds to variant dbSNP:rs137852493EnsemblClinVar.1
    Natural variantiVAR_006791177D → V in LNS; Roanne. 1 Publication1
    Natural variantiVAR_006792177D → Y in LNS; RJK 2185. 1 PublicationCorresponds to variant dbSNP:rs137852492EnsemblClinVar.1
    Natural variantiVAR_006793179Missing in LNS; Michigan. 1
    Natural variantiVAR_006795188V → A in GOUT-HPRT AND LNS; Asia. 3 Publications1
    Natural variantiVAR_006798194D → N in LNS; Kinston/RJK 2188. 2 PublicationsCorresponds to variant dbSNP:rs267606863EnsemblClinVar.1
    Natural variantiVAR_006800199F → V in LNS; New Briton/RJK 950. 1 PublicationCorresponds to variant dbSNP:rs137852486EnsemblClinVar.1
    Natural variantiVAR_006803201D → Y in LNS; GM. 1
    Natural variantiVAR_006804204H → D in LNS; RJK 1874. 1 PublicationCorresponds to variant dbSNP:rs137852490EnsemblClinVar.1
    Natural variantiVAR_006805204H → R in LNS; 779. 1 Publication1
    Natural variantiVAR_006806206C → Y in LNS; Reading/RJK 1727. 1 Publication1
    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 OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0067507G → D in GOUT-HPRT; Gravesend. 1
    Natural variantiVAR_00675316G → S in GOUT-HPRT; Urangan. Corresponds to variant dbSNP:rs137852499EnsemblClinVar.1
    Natural variantiVAR_00675420D → V in GOUT-HPRT; Mashad; strongly reduces enzymatic activity. 1 Publication1
    Natural variantiVAR_07161023C → F in GOUT-HPRT; Reduces enzymatic activity. 1 Publication1
    Natural variantiVAR_00675523C → W in GOUT-HPRT; JS. 1
    Natural variantiVAR_00676148R → H in GOUT-HPRT; AD and DD. Corresponds to variant dbSNP:rs387906725EnsemblClinVar.1
    Natural variantiVAR_00676451R → G in GOUT-HPRT; Toronto. 1 PublicationCorresponds to variant dbSNP:rs137852494EnsemblClinVar.1
    Natural variantiVAR_00676753V → A in GOUT-HPRT; MG. 1
    Natural variantiVAR_00676853V → M in GOUT-HPRT; TE. 1
    Natural variantiVAR_00677158G → R in GOUT-HPRT; Toowong. Corresponds to variant dbSNP:rs137852500EnsemblClinVar.1
    Natural variantiVAR_07161260H → R in GOUT-HPRT; Reduces enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs1228634091Ensembl.1
    Natural variantiVAR_00677678L → V in GOUT-HPRT; Swan. Corresponds to variant dbSNP:rs137852501EnsemblClinVar.1
    Natural variantiVAR_00677780D → V in GOUT-HPRT; Arlington. Corresponds to variant dbSNP:rs137852478EnsemblClinVar.1
    Natural variantiVAR_006778104S → R in GOUT-HPRT; Munich. 2 PublicationsCorresponds to variant dbSNP:rs137852485EnsemblClinVar.1
    Natural variantiVAR_006779110S → L in GOUT-HPRT; London. 2 PublicationsCorresponds to variant dbSNP:rs137852482EnsemblClinVar.1
    Natural variantiVAR_071618124T → P in GOUT-HPRT; Asia. 1 Publication1
    Natural variantiVAR_006782132I → M in GOUT-HPRT; Ann-Arbor. 1 PublicationCorresponds to variant dbSNP:rs137852477EnsemblClinVar.1
    Natural variantiVAR_006784135D → G in GOUT-HPRT; Yeronga. 1
    Natural variantiVAR_006787161A → S in GOUT-HPRT; Milwaukee/RJK 949. 1 PublicationCorresponds to variant dbSNP:rs137852484EnsemblClinVar.1
    Natural variantiVAR_006789168T → I in GOUT-HPRT; Brisbane. 1 PublicationCorresponds to variant dbSNP:rs137852498EnsemblClinVar.1
    Natural variantiVAR_006794179 – 180VG → GR in GOUT-HPRT; Japan-2. 2
    Natural variantiVAR_006796183I → T in GOUT-HPRT; JF. 1 Publication1
    Natural variantiVAR_071622185D → G in GOUT-HPRT; Asia. 1 Publication1
    Natural variantiVAR_006795188V → A in GOUT-HPRT AND LNS; Asia. 3 Publications1
    Natural variantiVAR_071623192A → V in GOUT-HPRT; Asia. 2 Publications1
    Natural variantiVAR_006797194D → E in GOUT-HPRT; Moose-Jaw; results in cooperativity and decreased substrate affinities. 1 PublicationCorresponds to variant dbSNP:rs137852504EnsemblClinVar.1
    Natural variantiVAR_006799195Y → C in GOUT-HPRT; Dirranbandi, Asia. 2 Publications1
    Natural variantiVAR_006801201D → G in GOUT-HPRT; Ashville. 1 PublicationCorresponds to variant dbSNP:rs137852479EnsemblClinVar.1
    Natural variantiVAR_006802201D → N in GOUT-HPRT; RB. 1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi69K → A: Reduced affinity for hypoxanthine, phosphoribosylpyrophosphate and IMP. Reduced catalytic activity. 1 Publication1

    Keywords - Diseasei

    Disease variant, Gout

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		3251

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...    GeneReviewsi    		HPRT1

    MalaCards human disease database

    More...    MalaCardsi    		HPRT1
    MIMi300322, phenotype
    300323, phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000165704

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...    Orphaneti    		79233, Hypoxanthine guanine phosphoribosyltransferase partial deficiency
    510, Lesch-Nyhan syndrome

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA29427

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		P00492, Tchem

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL2360

    Drug and drug target database

    More...    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

    DrugCentral

    More...    DrugCentrali    		P00492

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		HPRT1

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		123497

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001395852 – 218Hypoxanthine-guanine phosphoribosyltransferaseAdd BLAST217

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanine1 Publication1
    Modified residuei103N6-acetyllysineBy similarity1
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki115Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
    Cross-linki115Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
    Modified residuei142PhosphothreonineBy similarity1

    Keywords - PTMi

    Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    The CPTAC Assay portal

    More...    CPTACi    		CPTAC-216

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		P00492

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		P00492

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		P00492

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		P00492

    PaxDb, a database of protein abundance averages across all three domains of life

    More...    PaxDbi    		P00492

    PeptideAtlas

    More...    PeptideAtlasi    		P00492

    PRoteomics IDEntifications database

    More...    PRIDEi    		P00492

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		51257

    Consortium for Top Down Proteomics

    More...    TopDownProteomicsi    		P00492

    2D gel databases

    USC-OGP 2-DE database

    More...    OGPi    		P00492

    REPRODUCTION-2DPAGE

    More...    REPRODUCTION-2DPAGEi    		IPI00218493

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		P00492

    MetOSite database of methionine sulfoxide sites

    More...    MetOSitei    		P00492

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...    PhosphoSitePlusi    		P00492

    SwissPalm database of S-palmitoylation events

    More...    SwissPalmi    		P00492

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000165704, Expressed in oocyte and 243 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		P00492, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		P00492, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000165704, Low tissue specificity

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homotetramer.

    4 Publications

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Hide details

    GO - Molecular functioni

    Complete GO annotation on QuickGO ...

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		109488, 67 interactors

    Protein interaction database and analysis system

    More...    IntActi    		P00492, 30 interactors

    Molecular INTeraction database

    More...    MINTi    		P00492

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000298556

    Chemistry databases

    BindingDB database of measured binding affinities

    More...    BindingDBi    		P00492

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		P00492, protein

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1218
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...    SMRi    		P00492

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...    EvolutionaryTracei    		P00492

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    <p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Belongs to the purine/pyrimidine phosphoribosyltransferase family.Curated

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG3367, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00940000155028

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_073615_3_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		P00492

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		TMDWMAV

    Database of Orthologous Groups

    More...    OrthoDBi    		1537610at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		P00492

    TreeFam database of animal gene trees

    More...    TreeFami    		TF313367

    Family and domain databases

    Conserved Domains Database

    More...    CDDi    		cd06223, PRTases_typeI, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		3.40.50.2020, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR005904, Hxn_phspho_trans
    IPR000836, PRibTrfase_dom
    IPR029057, PRTase-like

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF00156, Pribosyltran, 1 hit

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF53271, SSF53271, 1 hit

    TIGRFAMs; a protein family database

    More...    TIGRFAMsi    		TIGR01203, HGPRTase, 1 hit

    PROSITE; a protein domain and family database

    More...    PROSITEi    		View protein in PROSITE
    PS00103, PUR_PYR_PR_TRANSFER, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    P00492-1 [UniParc]FASTAAdd to basket
    « Hide
            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
    Length:218
    Mass (Da):24,579
    Last modified:January 23, 2007 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1928EE69517CCB40
    GO

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0067507G → D in GOUT-HPRT; Gravesend. 1
    Natural variantiVAR_0067518V → G in LNS; HB. 1
    Natural variantiVAR_0716098Missing in LNS; Asia. 1 Publication1
    Natural variantiVAR_00675216G → D in LNS; FG. 1
    Natural variantiVAR_00675316G → S in GOUT-HPRT; Urangan. Corresponds to variant dbSNP:rs137852499EnsemblClinVar.1
    Natural variantiVAR_00675420D → V in GOUT-HPRT; Mashad; strongly reduces enzymatic activity. 1 Publication1
    Natural variantiVAR_07161023C → F in GOUT-HPRT; Reduces enzymatic activity. 1 Publication1
    Natural variantiVAR_00675523C → W in GOUT-HPRT; JS. 1
    Natural variantiVAR_01231228Missing in LNS; Asia. 2 Publications1
    Natural variantiVAR_00675641L → P in LNS; Detroit. Corresponds to variant dbSNP:rs137852480EnsemblClinVar.1
    Natural variantiVAR_00675742I → F in LNS; Isar. 1 Publication1
    Natural variantiVAR_00675842I → T in LNS; Heapey. 1
    Natural variantiVAR_00675943 – 44MD → RN in LNS; Salamanca. 2
    Natural variantiVAR_07161144D → Y in LNS; Japan. 1 Publication1
    Natural variantiVAR_00676045R → K in LNS; RJK 2163. 1 PublicationCorresponds to variant dbSNP:rs137852491EnsemblClinVar.1
    Natural variantiVAR_00676148R → H in GOUT-HPRT; AD and DD. Corresponds to variant dbSNP:rs387906725EnsemblClinVar.1
    Natural variantiVAR_00676350A → P in LNS; LW. Corresponds to variant dbSNP:rs1556026984EnsemblClinVar.1
    Natural variantiVAR_00676250A → V in LNS; 1265. 1 Publication1
    Natural variantiVAR_00676451R → G in GOUT-HPRT; Toronto. 1 PublicationCorresponds to variant dbSNP:rs137852494EnsemblClinVar.1
    Natural variantiVAR_00676551R → P in LNS; Banbury. 1
    Natural variantiVAR_00676652D → G in Edinburgh. 1 PublicationCorresponds to variant dbSNP:rs137852502EnsemblClinVar.1
    Natural variantiVAR_00676753V → A in GOUT-HPRT; MG. 1
    Natural variantiVAR_00676853V → M in GOUT-HPRT; TE. 1
    Natural variantiVAR_00676954M → L in LNS; Japan-1. 1 Publication1
    Natural variantiVAR_00677057M → T in LNS; Montreal. 1 PublicationCorresponds to variant dbSNP:rs137852495EnsemblClinVar.1
    Natural variantiVAR_00677158G → R in GOUT-HPRT; Toowong. Corresponds to variant dbSNP:rs137852500EnsemblClinVar.1
    Natural variantiVAR_07161260H → R in GOUT-HPRT; Reduces enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs1228634091Ensembl.1
    Natural variantiVAR_00677261H → R Enzyme activity 37% of normal; asymptomatic. 1 Publication1
    Natural variantiVAR_07161364A → P in LNS; Asia. 2 Publications1
    Natural variantiVAR_07161465L → P in LNS; Asia. 2 Publications1
    Natural variantiVAR_00677370G → E in LNS; New Haven/1510, Asia. 3 PublicationsCorresponds to variant dbSNP:rs137852487EnsemblClinVar.1
    Natural variantiVAR_00677471G → R in LNS; Yale. 1 PublicationCorresponds to variant dbSNP:rs137852488EnsemblClinVar.1
    Natural variantiVAR_07161572Y → C in LNS; Asia. 2 Publications1
    Natural variantiVAR_00677574F → L in LNS; Flint/RJK 892/DW/Perth/1522, Japan. 4 PublicationsCorresponds to variant dbSNP:rs137852481EnsemblClinVar.1
    Natural variantiVAR_07161678L → Q in LNS; Asia. 2 Publications1
    Natural variantiVAR_00677678L → V in GOUT-HPRT; Swan. Corresponds to variant dbSNP:rs137852501EnsemblClinVar.1
    Natural variantiVAR_00677780D → V in GOUT-HPRT; Arlington. Corresponds to variant dbSNP:rs137852478EnsemblClinVar.1
    Natural variantiVAR_006778104S → R in GOUT-HPRT; Munich. 2 PublicationsCorresponds to variant dbSNP:rs137852485EnsemblClinVar.1
    Natural variantiVAR_071617107 – 110Missing in LNS; Asia. 1 Publication4
    Natural variantiVAR_006779110S → L in GOUT-HPRT; London. 2 PublicationsCorresponds to variant dbSNP:rs137852482EnsemblClinVar.1
    Natural variantiVAR_071618124T → P in GOUT-HPRT; Asia. 1 Publication1
    Natural variantiVAR_006780130V → D in LNS; Midland/RJK 896. 2 PublicationsCorresponds to variant dbSNP:rs137852483EnsemblClinVar.1
    Natural variantiVAR_006781131L → S in LNS; RJK 1784. 1 Publication1
    Natural variantiVAR_006782132I → M in GOUT-HPRT; Ann-Arbor. 1 PublicationCorresponds to variant dbSNP:rs137852477EnsemblClinVar.1
    Natural variantiVAR_006783132I → T in LNS; Runcorn. 1
    Natural variantiVAR_006784135D → G in GOUT-HPRT; Yeronga. 1
    Natural variantiVAR_006785143M → K in LNS; RJK 1210. 1 PublicationCorresponds to variant dbSNP:rs137852496EnsemblClinVar.1
    Natural variantiVAR_006786143M → MA in LNS; RW. 1
    Natural variantiVAR_071619147L → P in LNS; Asia. 2 Publications1
    Natural variantiVAR_071620159K → E in LNS; Asia. 2 Publications1
    Natural variantiVAR_071621159K → KV in LNS; Asia. 1 Publication1
    Natural variantiVAR_006787161A → S in GOUT-HPRT; Milwaukee/RJK 949. 1 PublicationCorresponds to variant dbSNP:rs137852484EnsemblClinVar.1
    Natural variantiVAR_006788162S → R in LNS; Farnham. 1
    Natural variantiVAR_006789168T → I in GOUT-HPRT; Brisbane. 1 PublicationCorresponds to variant dbSNP:rs137852498EnsemblClinVar.1
    Natural variantiVAR_006790176P → L in LNS; Marlow. Corresponds to variant dbSNP:rs137852493EnsemblClinVar.1
    Natural variantiVAR_006791177D → V in LNS; Roanne. 1 Publication1
    Natural variantiVAR_006792177D → Y in LNS; RJK 2185. 1 PublicationCorresponds to variant dbSNP:rs137852492EnsemblClinVar.1
    Natural variantiVAR_006794179 – 180VG → GR in GOUT-HPRT; Japan-2. 2
    Natural variantiVAR_006793179Missing in LNS; Michigan. 1
    Natural variantiVAR_006796183I → T in GOUT-HPRT; JF. 1 Publication1
    Natural variantiVAR_071622185D → G in GOUT-HPRT; Asia. 1 Publication1
    Natural variantiVAR_006795188V → A in GOUT-HPRT AND LNS; Asia. 3 Publications1
    Natural variantiVAR_071623192A → V in GOUT-HPRT; Asia. 2 Publications1
    Natural variantiVAR_006797194D → E in GOUT-HPRT; Moose-Jaw; results in cooperativity and decreased substrate affinities. 1 PublicationCorresponds to variant dbSNP:rs137852504EnsemblClinVar.1
    Natural variantiVAR_006798194D → N in LNS; Kinston/RJK 2188. 2 PublicationsCorresponds to variant dbSNP:rs267606863EnsemblClinVar.1
    Natural variantiVAR_006799195Y → C in GOUT-HPRT; Dirranbandi, Asia. 2 Publications1
    Natural variantiVAR_006800199F → V in LNS; New Briton/RJK 950. 1 PublicationCorresponds to variant dbSNP:rs137852486EnsemblClinVar.1
    Natural variantiVAR_006801201D → G in GOUT-HPRT; Ashville. 1 PublicationCorresponds to variant dbSNP:rs137852479EnsemblClinVar.1
    Natural variantiVAR_006802201D → N in GOUT-HPRT; RB. 1
    Natural variantiVAR_006803201D → Y in LNS; GM. 1
    Natural variantiVAR_006804204H → D in LNS; RJK 1874. 1 PublicationCorresponds to variant dbSNP:rs137852490EnsemblClinVar.1
    Natural variantiVAR_006805204H → R in LNS; 779. 1 Publication1
    Natural variantiVAR_006806206C → Y in LNS; Reading/RJK 1727. 1 Publication1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...    EMBLi

    GenBank nucleotide sequence database

    More...    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...    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

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS14641.1

    Protein sequence database of the Protein Information Resource

    More...    PIRi    		A32728, RTHUG

    NCBI Reference Sequences

    More...    RefSeqi    		NP_000185.1, NM_000194.2

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000298556; ENSP00000298556; ENSG00000165704

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		3251

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:3251

    UCSC genome browser

    More...    UCSCi    		uc004exl.5, human

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    <p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
    CCDSiCCDS14641.1
    PIRiA32728, RTHUG
    RefSeqiNP_000185.1, NM_000194.2

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...    PDBei

    Protein Data Bank RCSB

    More...    RCSB PDBi

    Protein Data Bank Japan

    More...    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1BZYX-ray2.00A/B/C/D2-218[»]
    1D6NX-ray2.70A/B5-218[»]
    1HMPX-ray2.50A/B2-218[»]
    1Z7GX-ray1.90A/B/C/D2-218[»]
    2VFAX-ray2.80A/B49-160[»]
    3GEPX-ray2.60A/B2-218[»]
    3GGCX-ray2.78A/B2-218[»]
    3GGJX-ray2.60A/B2-218[»]
    4IJQX-ray2.00A/B/C/D2-218[»]
    4KN6X-ray2.73A3-218[»]
    4RABX-ray2.26A/B/C/D2-218[»]
    4RACX-ray2.05A/B/C/D2-218[»]
    4RADX-ray2.00A/B/C/D/E/F/G/H2-218[»]
    4RANX-ray2.55A/B/C/D2-218[»]
    4RAOX-ray1.87A/B/C/D2-218[»]
    4RAQX-ray2.53A/B/C/D2-218[»]
    5BRNX-ray2.30A/B/C/D1-218[»]
    5BSKX-ray2.61A/B/C/D1-218[»]
    5HIAX-ray1.77A/B/C/D1-218[»]
    5W8VX-ray2.35A/B/C/D5-218[»]
    6BNJX-ray1.91A/B/C/D1-218[»]
    SMRiP00492
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi109488, 67 interactors
    IntActiP00492, 30 interactors
    MINTiP00492
    STRINGi9606.ENSP00000298556

    Chemistry databases

    BindingDBiP00492
    ChEMBLiCHEMBL2360
    DrugBankiDB03153, 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
    DrugCentraliP00492

    PTM databases

    iPTMnetiP00492
    MetOSiteiP00492
    PhosphoSitePlusiP00492
    SwissPalmiP00492

    Genetic variation databases

    BioMutaiHPRT1
    DMDMi123497

    2D gel databases

    OGPiP00492
    REPRODUCTION-2DPAGEiIPI00218493

    Proteomic databases

    CPTACiCPTAC-216
    EPDiP00492
    jPOSTiP00492
    MassIVEiP00492
    MaxQBiP00492
    PaxDbiP00492
    PeptideAtlasiP00492
    PRIDEiP00492
    ProteomicsDBi51257
    TopDownProteomicsiP00492

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		1912, 589 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		3251

    Genome annotation databases

    EnsembliENST00000298556; ENSP00000298556; ENSG00000165704
    GeneIDi3251
    KEGGihsa:3251
    UCSCiuc004exl.5, human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		3251
    DisGeNETi3251

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		HPRT1
    GeneReviewsiHPRT1
    HGNCiHGNC:5157, HPRT1
    HPAiENSG00000165704, Low tissue specificity
    MalaCardsiHPRT1
    MIMi300322, phenotype
    300323, phenotype
    308000, gene
    neXtProtiNX_P00492
    OpenTargetsiENSG00000165704
    Orphaneti79233, Hypoxanthine guanine phosphoribosyltransferase partial deficiency
    510, Lesch-Nyhan syndrome
    PharmGKBiPA29427
    VEuPathDBiHostDB:ENSG00000165704.14

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG3367, Eukaryota
    GeneTreeiENSGT00940000155028
    HOGENOMiCLU_073615_3_0_1
    InParanoidiP00492
    OMAiTMDWMAV
    OrthoDBi1537610at2759
    PhylomeDBiP00492
    TreeFamiTF313367

    Enzyme and pathway databases

    UniPathwayiUPA00591;UER00648
    BioCyciMetaCyc:HS09275-MONOMER
    BRENDAi2.4.2.8, 2681
    PathwayCommonsiP00492
    ReactomeiR-HSA-74217, Purine salvage
    SABIO-RKiP00492

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		3251, 9 hits in 622 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...    ChiTaRSi    		HPRT1, human
    EvolutionaryTraceiP00492

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		Hypoxanthine-guanine_phosphoribosyltransferase

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...    GenomeRNAii    		3251
    PharosiP00492, Tchem

    Protein Ontology

    More...    PROi    		PR:P00492
    RNActiP00492, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000165704, Expressed in oocyte and 243 other tissues
    ExpressionAtlasiP00492, baseline and differential
    GenevisibleiP00492, HS

    Family and domain databases

    CDDicd06223, PRTases_typeI, 1 hit
    Gene3Di3.40.50.2020, 1 hit
    InterProiView protein in InterPro
    IPR005904, Hxn_phspho_trans
    IPR000836, PRibTrfase_dom
    IPR029057, PRTase-like
    PfamiView protein in Pfam
    PF00156, Pribosyltran, 1 hit
    SUPFAMiSSF53271, SSF53271, 1 hit
    TIGRFAMsiTIGR01203, HGPRTase, 1 hit
    PROSITEiView protein in PROSITE
    PS00103, PUR_PYR_PR_TRANSFER, 1 hit

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHPRT_HUMAN
    <p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P00492
    Secondary accession number(s): A6NHF0, B2R8M9
    <p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: January 23, 2007
    Last modified: June 2, 2021
    This is version 228 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    <p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    3D-structure, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with genetic variants
      List of human entries with genetic variants
    3. Human variants curated from literature reports
      Index of human variants curated from literature reports
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families
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