HPRT1

The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.
Full Name
hypoxanthine phosphoribosyltransferase 1
Function
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.
Biological Process
Adenine metabolic process Source: Ensembl
AMP salvage Source: Ensembl
Central nervous system neuron development Source: Ensembl
Cerebral cortex neuron differentiation Source: Ensembl
Dendrite morphogenesis Source: Ensembl
Dopamine metabolic process Source: Ensembl
GMP catabolic process Source: UniProtKB
GMP salvage Source: MGI
Grooming behavior Source: Ensembl
Guanine salvage Source: UniProtKB
Hypoxanthine metabolic process Source: UniProtKB
Hypoxanthine salvage Source: UniProtKB
IMP metabolic process Source: UniProtKB
IMP salvage Source: GO_Central
Locomotory behavior Source: Ensembl
Lymphocyte proliferation Source: Ensembl
Positive regulation of dopamine metabolic process Source: UniProtKB
Protein homotetramerization Source: UniProtKB
Purine nucleotide biosynthetic process Source: UniProtKB
Purine ribonucleoside salvage Source: UniProtKB
Response to amphetamine Source: Ensembl
Striatum development Source: Ensembl
T cell mediated cytotoxicity Source: Ensembl
Cellular Location
Cytoplasm
Involvement in disease
Lesch-Nyhan syndrome (LNS):
Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.
Hyperuricemia, HPRT-related (HRH):
An X-linked metabolic disorder characterized by uric acid excess in the blood, renal stones, uric acid nephropathy, and renal obstruction. After puberty, the hyperuricemia may cause gout.
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Anti-HPRT1 antibodies

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Mouse Anti-HPRT1 Recombinant Antibody (A259) (CBMAB-AP3169LY)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: A259
Application*: Dot blot, ELISA, WB
Datasheet SDS

Mouse Anti-HPRT1 Recombinant Antibody (1F8D11) (CBMAB-AO572LY)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 1F8D11
Application*: WB
Datasheet SDS

Mouse Anti-HPRT1 Recombinant Antibody (4C3-G8) (CBMAB-A4088-LY)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 4C3-G8
Application*: WB, E
Datasheet SDS

Mouse Anti-HPRT1 Recombinant Antibody (CBFYH-1915) (CBMAB-H2923-FY)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBFYH-1915
Application*: WB
Datasheet SDS

Mouse Anti-HPRT1 Recombinant Antibody (CBFYH-1910) (CBMAB-H2918-FY)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYH-1910
Application*: WB, IF
Datasheet SDS

Mouse Anti-HPRT1 Recombinant Antibody (CBFYH-1907) (CBMAB-H2916-FY)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBFYH-1907
Application*: E, P, WB
Datasheet SDS

Mouse Anti-HPRT1 (AA 1-218) Recombinant Antibody (5F11A7) (CBMAB-H2914-FY)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 5F11A7
Application*: E, F, IH, WB
Datasheet SDS

Mouse Anti-HPRT1 (AA 150-178 ) Recombinant Antibody (571CT1.3.4) (CBMAB-H2913-FY)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgM
Specificity: Human
Clone: 571CT1.3.4
Application*: WB
Datasheet SDS

Mouse Anti-HPRT1 (AA 1-218) Recombinant Antibody (CBFYH-1909) (CBMAB-H0446-FY)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYH-1909
Application*: WB, E
Datasheet SDS

Mouse Anti-HPRT1 Recombinant Antibody (CBT734) (V2LY-0625-LY3319)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBT734
Application*: WB, E
Datasheet SDS

Mouse Anti-HPRT1 Recombinant Antibody (CBT3433) (V2LY-0625-LY2075)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBT3433
Application*: WB
Datasheet SDS

Mouse Anti-HPRT1 Recombinant Antibody (CBT2530) (V2LY-0625-LY129)

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Target: HPRT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBT2530
Application*: WB, IH, F
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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