Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HPRT1 Gene

Aliases for HPRT1 Gene

  • Hypoxanthine Phosphoribosyltransferase 1 2 3
  • HPRT 3 4 6
  • EC 4 63
  • HGPRTase 3 4
  • HGPRT 3 4
  • Hypoxanthine-Guanine Phosphoribosyltransferase 3
  • Lesch-Nyhan Syndrome 2

External Ids for HPRT1 Gene

Previous HGNC Symbols for HPRT1 Gene

  • HPRT

Previous GeneCards Identifiers for HPRT1 Gene

  • GC0XP128239
  • GC0XP130440
  • GC0XP131539
  • GC0XP132299
  • GC0XP133319
  • GC0XP133421
  • GC0XP133594
  • GC0XP122992

Summaries for HPRT1 Gene

Entrez Gene Summary for HPRT1 Gene

  • 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]

GeneCards Summary for HPRT1 Gene

HPRT1 (Hypoxanthine Phosphoribosyltransferase 1) is a Protein Coding gene. Diseases associated with HPRT1 include lesch-nyhan syndrome and hprt-related gout. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is PRTFDC1.

UniProtKB/Swiss-Prot for HPRT1 Gene

  • 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

Gene Wiki entry for HPRT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPRT1 Gene

Genomics for HPRT1 Gene

Regulatory Elements for HPRT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HPRT1 Gene

134,460,145 bp from pter
134,520,513 bp from pter
60,369 bases
Plus strand

Genomic View for HPRT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HPRT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPRT1 Gene

Proteins for HPRT1 Gene

  • Protein details for HPRT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hypoxanthine-guanine phosphoribosyltransferase
    Protein Accession:
    Secondary Accessions:
    • A6NHF0
    • B2R8M9

    Protein attributes for HPRT1 Gene

    218 amino acids
    Molecular mass:
    24579 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 2 magnesium ions per subunit. The magnesium ions are essentially bound to the substrate and have few direct interactions with the protein.;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for HPRT1 Gene

neXtProt entry for HPRT1 Gene

Proteomics data for HPRT1 Gene at MOPED

Post-translational modifications for HPRT1 Gene

  • Ubiquitination at Lys103, Lys166, and Lys175
  • Modification sites at PhosphoSitePlus

Other Protein References for HPRT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for HPRT1 Gene

Protein Domains for HPRT1 Gene

Suggested Antigen Peptide Sequences for HPRT1 Gene

Graphical View of Domain Structure for InterPro Entry



  • P00492
  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.
genes like me logo Genes that share domains with HPRT1: view

No data available for Gene Families for HPRT1 Gene

Function for HPRT1 Gene

Molecular function for HPRT1 Gene

GENATLAS Biochemistry:
hypoxanthine phosphoribosyltransferase,purine salvage pathway
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5.4 uM for IMP {ECO:0000269 PubMed:10338013}; KM=0.45 uM for hypoxanthine {ECO:0000269 PubMed:10338013}; KM=25 uM for pyrophosphate {ECO:0000269 PubMed:10338013}; KM=31 uM for phosphoribosylpyrophosphate {ECO:0000269 PubMed:10338013};
UniProtKB/Swiss-Prot CatalyticActivity:
IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate
UniProtKB/Swiss-Prot CatalyticActivity:
GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for HPRT1 Gene

Gene Ontology (GO) - Molecular Function for HPRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 10360366
GO:0004422 hypoxanthine phosphoribosyltransferase activity IDA 19527031
GO:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding --
genes like me logo Genes that share ontologies with HPRT1: view
genes like me logo Genes that share phenotypes with HPRT1: view

Animal Models for HPRT1 Gene

MGI Knock Outs for HPRT1:

Animal Model Products

CRISPR Products

miRNA for HPRT1 Gene

miRTarBase miRNAs that target HPRT1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HPRT1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for HPRT1 Gene

Localization for HPRT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HPRT1 Gene


Subcellular locations from

Jensen Localization Image for HPRT1 Gene COMPARTMENTS Subcellular localization image for HPRT1 gene
Compartment Confidence
cytosol 3
mitochondrion 3
nucleus 2
plasma membrane 2
extracellular 1

Gene Ontology (GO) - Cellular Components for HPRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with HPRT1: view

Pathways for HPRT1 Gene

genes like me logo Genes that share pathways with HPRT1: view

Pathways by source for HPRT1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Adherens Junctions in human,mouse,rat
    • Adipogenesis in human,mouse,rat

UniProtKB/Swiss-Prot P00492-HPRT_HUMAN

  • Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1

Gene Ontology (GO) - Biological Process for HPRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001975 response to amphetamine IEA --
GO:0006144 purine nucleobase metabolic process TAS --
GO:0006164 purine nucleotide biosynthetic process IMP 9824441
GO:0006166 purine ribonucleoside salvage IMP 9824441
GO:0006168 adenine salvage IBA --
genes like me logo Genes that share ontologies with HPRT1: view

Compounds for HPRT1 Gene

(12) HMDB Compounds for HPRT1 Gene

Compound Synonyms Cas Number PubMed IDs
  • 1,6-Dihydro-6-iminopurine
Adenosine monophosphate
  • 5'-AMP
  • GUN
Guanosine monophosphate
  • 5'-GMP
  • 1,7-Dihydro-6H-purin-6-one

(8) Drugbank Compounds for HPRT1 Gene

(126) Novoseek inferred chemical compound relationships for HPRT1 Gene

Compound -log(P) Hits PubMed IDs
hypoxanthine 93.4 120
6 thioguanine 91.5 101
purine 83.3 96
prpp 80.6 29
actb 78.1 21

(1) PharmGKB related drug/compound annotations for HPRT1 Gene

Drug/compound Annotation
mycophenolic acid
genes like me logo Genes that share compounds with HPRT1: view

Transcripts for HPRT1 Gene

mRNA/cDNA for HPRT1 Gene

Unigene Clusters for HPRT1 Gene

Hypoxanthine phosphoribosyltransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HPRT1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HPRT1 Gene

No ASD Table

Relevant External Links for HPRT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HPRT1 Gene

mRNA expression in normal human tissues for HPRT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for HPRT1 Gene

This gene is overexpressed in Brain (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HPRT1 Gene

SOURCE GeneReport for Unigene cluster for HPRT1 Gene Hs.412707

genes like me logo Genes that share expressions with HPRT1: view

Expression partners for HPRT1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HPRT1 Gene

Orthologs for HPRT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HPRT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia LOC510369 35
  • 90.67 (n)
  • 92.66 (a)
-- 36
  • 89 (a)
-- 36
  • 93 (a)
HPRT1 36
  • 95 (a)
(Canis familiaris)
Mammalia HPRT1 35
  • 95.72 (n)
  • 96.79 (a)
  • 94 (a)
(Mus musculus)
Mammalia Hprt 35
  • 93.43 (n)
  • 96.79 (a)
Hprt 16
Hprt 36
  • 97 (a)
(Pan troglodytes)
Mammalia HPRT1 35
  • 99.69 (n)
  • 99.54 (a)
HPRT1 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Hprt1 35
  • 93.27 (n)
  • 95.41 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 62 (a)
-- 36
  • 71 (a)
-- 36
  • 71 (a)
-- 36
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia HPRT1 36
  • 92 (a)
(Gallus gallus)
Aves HPRT1 35
  • 81.04 (n)
  • 90.83 (a)
HPRT1 36
  • 88 (a)
(Anolis carolinensis)
Reptilia HPRT1 36
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hprt1 35
  • 79.28 (n)
  • 89.25 (a)
MGC76223 35
(Danio rerio)
Actinopterygii Dr.1668 35
hprt1 35
  • 77.06 (n)
  • 91.28 (a)
hprt1 36
  • 90 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9341 35
(Caenorhabditis elegans)
Secernentea Y105E8B.5 37
  • 48 (a)
CELE_Y105E8B.5 35
  • 51.89 (n)
  • 49.06 (a)
Y105E8B.5 36
  • 48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4587 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
Species with no ortholog for HPRT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HPRT1 Gene

Gene Tree for HPRT1 (if available)
Gene Tree for HPRT1 (if available)

Paralogs for HPRT1 Gene

Paralogs for HPRT1 Gene

Selected SIMAP similar genes for HPRT1 Gene using alignment to 2 proteins: Pseudogenes for HPRT1 Gene

genes like me logo Genes that share paralogs with HPRT1: view

Variants for HPRT1 Gene

Sequence variations from dbSNP and Humsavar for HPRT1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs629 -- 134,499,326(+) ataca(A/C)aaatt intron-variant
rs630 -- 134,499,809(+) AAAAA(A/C)AAAAA intron-variant
rs116493 -- 134,474,706(+) ATCCA(A/G)GAAAT intron-variant
rs117407 -- 134,475,080(+) tcact(A/G)tattg intron-variant
rs366687 -- 134,483,949(+) aggat(A/C)gcttg intron-variant

Relevant External Links for HPRT1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HPRT1 Gene

Disorders for HPRT1 Gene

(2) OMIM Diseases for HPRT1 Gene (308000)


  • Lesch-Nyhan syndrome (LNS) [MIM:300322]: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation. {ECO:0000269 PubMed:15571223, ECO:0000269 PubMed:17027311, ECO:0000269 PubMed:2071157, ECO:0000269 PubMed:2246854, ECO:0000269 PubMed:2347587, ECO:0000269 PubMed:2358296, ECO:0000269 PubMed:24940672, ECO:0000269 PubMed:2910902, ECO:0000269 PubMed:3265398, ECO:0000269 PubMed:3384338, ECO:0000269 PubMed:6853716, ECO:0000269 PubMed:7627191, ECO:0000269 PubMed:9452051}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gout HPRT-related (GOUT-HPRT) [MIM:300323]: Characterized by partial enzyme activity and hyperuricemia. {ECO:0000269 PubMed:15571223, ECO:0000269 PubMed:17027311, ECO:0000269 PubMed:20544509, ECO:0000269 PubMed:24940672, ECO:0000269 PubMed:2909537, ECO:0000269 PubMed:3198771, ECO:0000269 PubMed:3358423, ECO:0000269 PubMed:6572373, ECO:0000269 PubMed:6706936, ECO:0000269 PubMed:6853490, ECO:0000269 Ref.43}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(92) Novoseek inferred disease relationships for HPRT1 Gene

Disease -log(P) Hits PubMed IDs
lesch-nyhan syndrome 97.1 223
hprt deficiency, partial 95.1 46
hyperuricemia 78.4 32
somatic mutations 73.3 37
choreoathetosis 72.6 6

Genatlas disease for HPRT1 Gene

Lesch Nyhan syndrome,including severe juvenile gout

Relevant External Links for HPRT1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with HPRT1: view

Publications for HPRT1 Gene

  1. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. (PMID: 1301916) Sege-Paterson K. … Nyhan W.L. (Hum. Mol. Genet. 1992) 3 4 23
  2. The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction. (PMID: 1551676) Lightfoot T. … Snyder F.F. (Hum. Genet. 1992) 3 4 23
  3. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. (PMID: 2347587) Gibbs R.A. … Caskey C.T. (Genomics 1990) 3 4 23
  4. The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. (PMID: 8044844) Eads J.C. … Sacchettini J.C. (Cell 1994) 3 4 23
  5. Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification. (PMID: 1937471) Sculley D.G. … Gordon R.B. (Hum. Genet. 1991) 3 4 23

Products for HPRT1 Gene

  • Addgene plasmids for HPRT1

Sources for HPRT1 Gene

Back to Top