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Aliases for HPRT1 Gene

Aliases for HPRT1 Gene

  • Hypoxanthine Phosphoribosyltransferase 1 2 3 5
  • EC 4 63
  • HGPRTase 3 4
  • HGPRT 3 4
  • HPRT 3 4
  • Hypoxanthine-Guanine Phosphoribosyltransferase 1 3
  • Testicular Tissue Protein Li 89 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 Purine metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and nucleotide 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

Enhancers for HPRT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HPRT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HPRT1 Gene

134,452,842 bp from pter
134,520,513 bp from pter
67,672 bases
Plus strand

Genomic View for HPRT1 Gene

Genes around HPRT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HPRT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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 Lys 175
  • Modification sites at PhosphoSitePlus

Other Protein References for HPRT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HPRT1 Gene

Protein Domains for HPRT1 Gene

Suggested Antigen Peptide Sequences for HPRT1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.
  • 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:0042802 identical protein binding IEA --
GO:0052657 guanine phosphoribosyltransferase activity IDA 19527031
genes like me logo Genes that share ontologies with HPRT1: view
genes like me logo Genes that share phenotypes with HPRT1: view

Human Phenotype Ontology for HPRT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HPRT1 Gene

MGI Knock Outs for HPRT1:
  • Hprt tm1.1Pobe
  • Hprt tm5(Myh7-GFP,Myh6-CFP)Unc
  • Hprt tm1(Nfkb1-EGFP)Cjo
  • Hprt tm73(Ple142-lacZ)Ems
  • Hprt tm1(tetO-EGFP/Rac1*)Shaw
  • Hprt tm1(CAG-Sox9,-EGFP)Akis
  • Hprt tm3(ROBO4-lacZ)Aird
  • Hprt tm1(Trp53RE-EGFP)Dpl
  • Hprt tm2(Penk1-lacZ)Saub
  • Hprt tm2(Trp53RE-EGFP)Dpl
  • Hprt tm10(VWF-lacZ)Aird
  • Hprt tm1(tetO-lacZ)Frje
  • Hprt tm11Aird
  • Hprt tm1(Penk1-lacZ)Saub
  • Hprt tm8(VWF-lacZ)Aird
  • Hprt tm4(CAG-DsRed)Brd
  • Hprt tm7(VWF-lacZ)Aird
  • Hprt tm5(RCAN1-lacZ)Aird
  • Hprt tm87(Ple15-lacZ)Ems
  • Hprt tm9(VWF-lacZ)Aird
  • Hprt tm6(VWF-lacZ)Aird
  • Hprt tm2Brd

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets 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 5
extracellular 5
nucleus 3
mitochondrion 2
plasma membrane 2

No data available for Gene Ontology (GO) - Cellular Components for HPRT1 Gene

Pathways & Interactions for HPRT1 Gene

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

Pathways by source for HPRT1 Gene

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:0006144 purine nucleobase metabolic process TAS --
GO:0006164 purine nucleotide biosynthetic process IMP 9824441
GO:0006166 purine ribonucleoside salvage IEA,IMP 9824441
GO:0006178 guanine salvage IEA,IDA 19527031
GO:0007626 locomotory behavior IEA --
genes like me logo Genes that share ontologies with HPRT1: view

No data available for SIGNOR curated interactions for HPRT1 Gene

Drugs & Compounds for HPRT1 Gene

(65) Drugs for HPRT1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mercaptopurine Approved Pharma inhibitor, Target 0
Azathioprine Approved Pharma Target, inhibitor 155
Thioguanine Approved Pharma Enzyme, substrate Purine antimetabolite 79
Mycophenolic acid Approved Pharma 906
Adenine Approved Nutra 0

(79) Additional Compounds for HPRT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
6-Methylthiopurine 5'-monophosphate ribonucleotide
6-Thioguanosine monophosphate
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
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:

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

Protein differential expression in normal tissues from HIPED for HPRT1 Gene

This gene is overexpressed in Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with HPRT1: view

Protein tissue co-expression partners for HPRT1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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

(1) 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
VAR_006750 Gout HPRT-related (GOUT-HPRT)
VAR_006751 Lesch-Nyhan syndrome (LNS)
VAR_006752 Lesch-Nyhan syndrome (LNS)
VAR_006753 Gout HPRT-related (GOUT-HPRT)
VAR_006754 Gout HPRT-related (GOUT-HPRT)

Variation tolerance for HPRT1 Gene

Residual Variation Intolerance Score: 42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HPRT1 Gene

Human Gene Mutation Database (HGMD)

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

MalaCards: The human disease database

(30) MalaCards diseases for HPRT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lesch-nyhan syndrome
  • complete hypoxanthine-guanine phosphoribosyltransferase deficiency
hprt-related gout
  • kelley-seegmiller syndrome
hypoxanthine guanine phosphoribosyltransferase partial deficiency
  • hprt deficiency, grade i
gout, hprt1-related
  • kelley-seegmiller syndrome
  • articular gout
- elite association - COSMIC cancer census association via MalaCards
Search HPRT1 in MalaCards View complete list of genes associated with diseases


  • 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 PubMed:7987318}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with HPRT1: view

Publications for HPRT1 Gene

  1. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. (PMID: 1487231) Sculley D.G. … Gordon R.B. (Hum. Genet. 1992) 3 4 23 67
  2. Thioguanine, mercaptopurine: their analogs and nucleosides as antimetabolites. (PMID: 14529546) Elgemeie G.H. (Curr. Pharm. Des. 2003) 23 25 26
  3. Frequent detection of T cells with mutations of the hypoxanthine-guanine phosphoribosyl transferase gene in patients with paroxysmal nocturnal hemoglobinuria. (PMID: 11756148) Horikawa K. … Nakakuma H. (Blood 2002) 23 25 26
  4. Development of a bacterial screen for novel hypoxanthine-guanine phosphoribosyltransferase substrates. (PMID: 11545274) Shivashankar K. … Balaram H. (J. Mol. Microbiol. Biotechnol. 2001) 23 25 26
  5. Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. (PMID: 19342420) Ceballos-Picot I. … Jinnah H.A. (Hum. Mol. Genet. 2009) 3 23

Products for HPRT1 Gene

Sources for HPRT1 Gene