U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    HPRT1 hypoxanthine phosphoribosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 3251, updated on 7-Aug-2022

    Summary

    Official Symbol
    HPRT1provided by HGNC
    Official Full Name
    hypoxanthine phosphoribosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:5157
    See related
    Ensembl:ENSG00000165704 MIM:308000; AllianceGenome:HGNC:5157
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HPRT; HGPRT
    Summary
    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.[provided by RefSeq, Jun 2009]
    Expression
    Broad expression in testis (RPKM 45.9), brain (RPKM 28.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HPRT1 in Genome Data Viewer
    Location:
    Xq26.2-q26.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (134460165..134500668)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (132785328..132825827)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (133594195..133634698)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NT5DC1 pseudogene 2 Neighboring gene PHD finger protein 6 Neighboring gene origin of replication in promoter/intron 1 of HPRT1 Neighboring gene ribosomal protein L36a pseudogene 54 Neighboring gene microRNA 450b

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-01-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-13)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr Treatment of human primary astrocytes with HIV-1 Vpr downregulates expression of eleven genes, BNIP3, CYGB, DUOX2, DUSP1, FOXM1, GAPDH, HPRT1, MT3, MTL5, PTGS2, and SCARA3 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanine phosphoribosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hypoxanthine phosphoribosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables hypoxanthine phosphoribosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables magnesium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in AMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in GMP catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in GMP salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in GMP salvage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in IMP metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in IMP salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in IMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adenine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopaminergic neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in grooming behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in guanine salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in guanine salvage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hypoxanthine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in hypoxanthine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hypoxanthine salvage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymphocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of dopamine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein homotetramerization IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in purine nucleotide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in purine ribonucleoside salvage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in striatum development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    hypoxanthine-guanine phosphoribosyltransferase
    Names
    HGPRTase
    hypoxanthine guanine phosphoribosyl transferase
    hypoxanthine-guanine phosphoribosyltransferase 1
    testicular tissue protein Li 89
    NP_000185.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012329.2 RefSeqGene

      Range
      5021..45524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000194.3NP_000185.1  hypoxanthine-guanine phosphoribosyltransferase

      See identical proteins and their annotated locations for NP_000185.1

      Status: REVIEWED

      Source sequence(s)
      AC004383, BC000578, M31642
      Consensus CDS
      CCDS14641.1
      UniProtKB/Swiss-Prot
      B2R8M9, P00492
      UniProtKB/TrEMBL
      A0A140VJL3
      Related
      ENSP00000298556.7, ENST00000298556.8
      Conserved Domains (1) summary
      cl00309
      Location:8218
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      134460165..134500668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      132785328..132825827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)