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Aliases for HPRT1 Gene

Aliases for HPRT1 Gene

  • Hypoxanthine Phosphoribosyltransferase 1 2 3
  • EC 2.4.2.8 4 63
  • HGPRTase 3 4
  • HGPRT 3 4
  • HPRT 3 4
  • Hypoxanthine-Guanine Phosphoribosyltransferase 1 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 hereditary hyperuricemia. Among its related pathways are Metabolism and Pyrimidine metabolism (KEGG). 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

Epigenetics Products

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

Genomic Location for HPRT1 Gene

Chromosome:
X
Start:
134,452,842 bp from pter
End:
134,520,513 bp from pter
Size:
67,672 bases
Orientation:
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:
    P00492-HPRT_HUMAN
    Recommended name:
    Hypoxanthine-guanine phosphoribosyltransferase
    Protein Accession:
    P00492
    Secondary Accessions:
    • A6NHF0
    • B2R8M9

    Protein attributes for HPRT1 Gene

    Size:
    218 amino acids
    Molecular mass:
    24579 Da
    Cofactor:
    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 Lys 175
  • Modification sites at PhosphoSitePlus

Other Protein References for HPRT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

P00492

UniProtKB/Swiss-Prot:

HPRT_HUMAN :
  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.
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:0000287 magnesium ion binding IDA 10360366
GO:0004422 hypoxanthine phosphoribosyltransferase activity IDA 6300847
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

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 Targets and HOMER Transcription for HPRT1 Gene

Localization for HPRT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HPRT1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HPRT1 Gene COMPARTMENTS Subcellular localization image for HPRT1 gene
Compartment Confidence
extracellular 5
cytosol 3
mitochondrion 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HPRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 6300847
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with HPRT1: view

Pathways & Interactions 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

No data available for SIGNOR curated interactions for HPRT1 Gene

Drugs & Compounds for HPRT1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mercaptopurine Approved Pharma inhibitor, Target 0
Azathioprine Approved Pharma Target, inhibitor 145
Thioguanine Approved Pharma Enzyme, substrate Purine antimetabolite 74
Mycophenolic acid Approved Pharma 864
Adenine Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
6-Methylmercaptopurine
6-Methylthiopurine 5'-monophosphate ribonucleotide
6-Thioguanosine monophosphate
6-Thioinosine-5'-monophosphate
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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

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
HPRT1
ECgene alternative splicing isoforms for
HPRT1

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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia LOC510369 35
  • 90.67 (n)
  • 92.66 (a)
-- 36
  • 89 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
HPRT1 36
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia HPRT1 35
  • 95.72 (n)
  • 96.79 (a)
HPRT 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hprt 35
  • 93.43 (n)
  • 96.79 (a)
Hprt 16
Hprt 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HPRT1 35
  • 99.69 (n)
  • 99.54 (a)
HPRT1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hprt1 35
  • 93.27 (n)
  • 95.41 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 62 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HPRT1 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves HPRT1 35
  • 81.04 (n)
  • 90.83 (a)
HPRT1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HPRT1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hprt1 35
  • 79.28 (n)
  • 89.25 (a)
MGC76223 35
zebrafish
(Danio rerio)
Actinopterygii Dr.1668 35
hprt1 35
  • 77.06 (n)
  • 91.28 (a)
hprt1 36
  • 90 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9341 35
worm
(Caenorhabditis elegans)
Secernentea Y105E8B.5 37
  • 48 (a)
CELE_Y105E8B.5 35
  • 51.89 (n)
  • 49.06 (a)
Y105E8B.5 36
  • 48 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4587 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToMany
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

ENSEMBL:
Gene Tree for HPRT1 (if available)
TreeFam:
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.org 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

Variation tolerance for HPRT1 Gene

Residual Variation Intolerance Score: 42.01% 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

HapMap Linkage Disequilibrium report
HPRT1
Human Gene Mutation Database (HGMD)
HPRT1

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

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

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

UniProtKB/Swiss-Prot

HPRT_HUMAN
  • 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)
HPRT1
Human Genome Epidemiology (HuGE) Navigator
HPRT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HPRT1
genes like me logo Genes that share disorders with HPRT1: view

Publications for HPRT1 Gene

  1. Thioguanine, mercaptopurine: their analogs and nucleosides as antimetabolites. (PMID: 14529546) Elgemeie G.H. (Curr. Pharm. Des. 2003) 23 25 26 67
  2. 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 67
  3. 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 67
  4. Effect of rapid human N-acetyltransferase 2 haplotype on DNA damage and mutagenesis induced by 2-amino-3-methylimidazo-[4,5-f]quinoline (IQ) and 2-amino-3,8-dimethylimidazo-[4,5-f]quinoxaline (MeIQx). (PMID: 20004212) Metry K.J. … Hein D.W. (Mutat. Res. 2010) 23 67
  5. Identification of endogenous control genes for normalisation of real-time quantitative PCR data in colorectal cancer. (PMID: 20122155) Kheirelseid E.A. … Miller N. (BMC Mol. Biol. 2010) 23 67

Products for HPRT1 Gene

Sources for HPRT1 Gene

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