Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P00492 (HPRT_HUMAN)

Protein

Hypoxanthine-guanine phosphoribosyltransferase

Gene

HPRT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate.
GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate.

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

  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

    Pathwayi: IMP biosynthesis via salvage pathway

    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:
    1. Hypoxanthine-guanine phosphoribosyltransferase (HPRT1), Hypoxanthine phosphoribosyltransferase, Hypoxanthine phosphoribosyltransferase (HPRT1), Hypoxanthine phosphoribosyltransferase (hprT)
    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
    Binding sitei69GMP1 Publication1
    Active sitei138Proton acceptorCurated1
    Binding sitei166GMP1 Publication1
    Metal bindingi194Magnesium1
    Binding sitei194GMP; via carbonyl oxygen1 Publication1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Nucleotide bindingi134 – 142GMP1 Publication9
    Nucleotide bindingi186 – 188GMP1 Publication3

    GO - Molecular functioni

    View the complete GO annotation on QuickGO ...

    GO - Biological processi

    View the complete GO annotation on QuickGO ...

    Keywordsi

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

    Enzyme and pathway databases

    BioCyciMetaCyc:HS09275-MONOMER
    BRENDAi2.4.2.8 2681
    ReactomeiR-HSA-74217 Purine salvage
    SABIO-RKiP00492
    UniPathwayi
    UPA00591;UER00648

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hypoxanthine-guanine phosphoribosyltransferase (EC:2.4.2.8)
    Short name:
    HGPRT
    Short name:
    HGPRTase
    Gene namesi
    Name:HPRT1
    Synonyms:HPRT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    Proteomesi
    • UP000005640 Componenti: Chromosome X

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000165704.14
    HGNCiHGNC:5157 HPRT1
    MIMi308000 gene
    neXtProtiNX_P00492

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Lesch-Nyhan syndrome (LNS)15 Publications
    The disease is caused by mutations 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.
    See also OMIM:300322
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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. 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 mutations affecting the gene represented in this entry.
    Disease descriptionCharacterized by partial enzyme activity and hyperuricemia.
    See also OMIM:300323
    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 Publication1
    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
    Mutagenesisi69K → A: Reduced affinity for hypoxanthine, phosphoribosylpyrophosphate and IMP. Reduced catalytic activity. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Gout

    Organism-specific databases

    DisGeNETi3251
    GeneReviewsiHPRT1
    MalaCardsiHPRT1
    MIMi300322 phenotype
    300323 phenotype
    OpenTargetsiENSG00000165704
    Orphaneti79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency
    510 Lesch-Nyhan syndrome
    PharmGKBiPA29427

    Chemistry databases

    ChEMBLiCHEMBL2360
    DrugBankiDB02309 5--Monophosphate-9-Beta-D-Ribofuranosyl Xanthine
    DB04356 9-Deazaguanine
    DB01632 Alpha-Phosphoribosylpyrophosphoric Acid
    DB00993 Azathioprine
    DB01033 Mercaptopurine
    DB00352 Tioguanine

    Polymorphism and mutation databases

    BioMutaiHPRT1
    DMDMi123497

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Initiator methionineiRemoved1 Publication
    ChainiPRO_00001395852 – 218Hypoxanthine-guanine phosphoribosyltransferaseAdd BLAST217

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei2N-acetylalanine1 Publication1
    Modified residuei103N6-acetyllysineBy similarity1
    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

    EPDiP00492
    MaxQBiP00492
    PaxDbiP00492
    PeptideAtlasiP00492
    PRIDEiP00492
    ProteomicsDBi51257
    TopDownProteomicsiP00492

    2D gel databases

    OGPiP00492
    REPRODUCTION-2DPAGEiIPI00218493

    PTM databases

    iPTMnetiP00492
    PhosphoSitePlusiP00492
    SwissPalmiP00492

    Expressioni

    Gene expression databases

    BgeeiENSG00000165704 Expressed in 230 organ(s), highest expression level in oocyte
    CleanExiHS_HPRT1
    ExpressionAtlasiP00492 baseline and differential
    GenevisibleiP00492 HS

    Organism-specific databases

    HPAiCAB012200
    HPA006360

    Interactioni

    Subunit structurei

    Homotetramer.4 Publications

    Binary interactionsi

    GO - Molecular functioni

    View the complete GO annotation on QuickGO ...

    Protein-protein interaction databases

    BioGridi109488, 41 interactors
    IntActiP00492, 19 interactors
    MINTiP00492
    STRINGi9606.ENSP00000298556

    Chemistry databases

    BindingDBiP00492

    Structurei

    Secondary structure

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

    3D structure databases

    ProteinModelPortaliP00492
    SMRiP00492
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP00492

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the purine/pyrimidine phosphoribosyltransferase family.Curated

    Phylogenomic databases

    eggNOGiKOG3367 Eukaryota
    COG0634 LUCA
    GeneTreeiENSGT00390000017323
    HOGENOMiHOG000236521
    HOVERGENiHBG000242
    InParanoidiP00492
    KOiK00760
    OMAiTMDWMAV
    OrthoDBiEOG091G0K6K
    PhylomeDBiP00492
    TreeFamiTF313367

    Family and domain databases

    CDDicd06223 PRTases_typeI, 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

    Sequencei

    Sequence statusi: Complete.

    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
    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. 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 Publication1
    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:
    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
    UniGeneiHs.412707

    Genome annotation databases

    EnsembliENST00000298556; ENSP00000298556; ENSG00000165704
    GeneIDi3251
    KEGGihsa:3251
    UCSCiuc004exl.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
    CCDSiCCDS14641.1
    PIRiA32728 RTHUG
    RefSeqiNP_000185.1, NM_000194.2
    UniGeneiHs.412707

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    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[»]
    ProteinModelPortaliP00492
    SMRiP00492
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi109488, 41 interactors
    IntActiP00492, 19 interactors
    MINTiP00492
    STRINGi9606.ENSP00000298556

    Chemistry databases

    BindingDBiP00492
    ChEMBLiCHEMBL2360
    DrugBankiDB02309 5--Monophosphate-9-Beta-D-Ribofuranosyl Xanthine
    DB04356 9-Deazaguanine
    DB01632 Alpha-Phosphoribosylpyrophosphoric Acid
    DB00993 Azathioprine
    DB01033 Mercaptopurine
    DB00352 Tioguanine

    PTM databases

    iPTMnetiP00492
    PhosphoSitePlusiP00492
    SwissPalmiP00492

    Polymorphism and mutation databases

    BioMutaiHPRT1
    DMDMi123497

    2D gel databases

    OGPiP00492
    REPRODUCTION-2DPAGEiIPI00218493

    Proteomic databases

    EPDiP00492
    MaxQBiP00492
    PaxDbiP00492
    PeptideAtlasiP00492
    PRIDEiP00492
    ProteomicsDBi51257
    TopDownProteomicsiP00492

    Protocols and materials databases

    DNASUi3251
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

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

    Organism-specific databases

    CTDi3251
    DisGeNETi3251
    EuPathDBiHostDB:ENSG00000165704.14
    GeneCardsiHPRT1
    GeneReviewsiHPRT1
    HGNCiHGNC:5157 HPRT1
    HPAiCAB012200
    HPA006360
    MalaCardsiHPRT1
    MIMi300322 phenotype
    300323 phenotype
    308000 gene
    neXtProtiNX_P00492
    OpenTargetsiENSG00000165704
    Orphaneti79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency
    510 Lesch-Nyhan syndrome
    PharmGKBiPA29427
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG3367 Eukaryota
    COG0634 LUCA
    GeneTreeiENSGT00390000017323
    HOGENOMiHOG000236521
    HOVERGENiHBG000242
    InParanoidiP00492
    KOiK00760
    OMAiTMDWMAV
    OrthoDBiEOG091G0K6K
    PhylomeDBiP00492
    TreeFamiTF313367

    Enzyme and pathway databases

    UniPathwayi
    UPA00591;UER00648

    BioCyciMetaCyc:HS09275-MONOMER
    BRENDAi2.4.2.8 2681
    ReactomeiR-HSA-74217 Purine salvage
    SABIO-RKiP00492

    Miscellaneous databases

    ChiTaRSiHPRT1 human
    EvolutionaryTraceiP00492
    GeneWikiiHypoxanthine-guanine_phosphoribosyltransferase
    GenomeRNAii3251
    PROiPR:P00492
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000165704 Expressed in 230 organ(s), highest expression level in oocyte
    CleanExiHS_HPRT1
    ExpressionAtlasiP00492 baseline and differential
    GenevisibleiP00492 HS

    Family and domain databases

    CDDicd06223 PRTases_typeI, 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
    ProtoNetiSearch...

    Entry informationi

    Entry nameiHPRT_HUMAN
    AccessioniPrimary (citable) accession number: P00492
    Secondary accession number(s): A6NHF0, B2R8M9
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: January 23, 2007
    Last modified: September 12, 2018
    This is version 209 of the entry and version 2 of the sequence. See complete history.
    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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    2. SIMILARITY comments
      Index of protein domains and families
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    6. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    7. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

    We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

    Do not show this banner again