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HPRT1 Gene(Protein Coding)

Hypoxanthine Phosphoribosyltransferase 1

GCID:
GC0XP134460
GIFtS:
66
Genes Participants
UDN Logo

Aliases for HPRT1 Gene

Aliases for HPRT1 Gene

  • Hypoxanthine Phosphoribosyltransferase 1 2 3 5
  • EC 2.4.2.8 4 61
  • HGPRTase 3 4
  • HGPRT 3 4
  • HPRT 3 4
  • Hypoxanthine-Guanine Phosphoribosyltransferase 1 3
  • Hypoxanthine-Guanine Phosphoribosyltransferase 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 (REACTOME) and Mesodermal Commitment Pathway. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPRT1 Gene

Genomics for HPRT1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for HPRT1 Gene

Enhancers for HPRT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG134459 0.9 ENCODE 0.4 +7.9 7860 2.2 ATF1 ARNT SIN3A GLIS2 ZNF263 REST ZNF592 HMBOX1 KDM1A SP7 HPRT1 GC0XP134493
GH0XG134470 0.4 Ensembl 0.4 +17.3 17259 0.2 MNT HPRT1 GC0XP134493
GH0XG134469 0.4 Ensembl 0.4 +16.9 16859 0.2 FOS HPRT1 GC0XP134493
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HPRT1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the HPRT1 gene promoter:

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

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 Structure • Gene Density

RefSeq DNA sequence for HPRT1 Gene

Proteins for HPRT1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for HPRT1 Gene

neXtProt entry for HPRT1 Gene

Protein Expression for HPRT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for HPRT1 Gene

P00492:
  • FVVGYALDYN
  • FRDLNHVCVISE
  • LIVEDIID
  • IPHGLIMDRTERLAR
  • GYDLDLFCIP
  • CVISETGK
  • VEDIIDTG
  • VKVASLLVKRT
  • VLIVEDI
  • KSYCNDQSTG
  • MGGHHIVALCVLKGGYKFFADLLDYIKALNRNSD

Post-translational modifications for HPRT1 Gene

  • Ubiquitination at isoforms=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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HPRT1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 EXP,IDA 6300847
GO:0005515 protein binding IPI 16189514
GO:0016740 transferase activity IEA --
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 tm1a(EUCOMM)Hmgu
  • Hprt tm1(Nfkb1-EGFP)Cjo
  • Hprt tm73(Ple142-lacZ)Ems
  • Hprt tm5(Myh7-GFP,Myh6-CFP)Unc
  • Hprt tm1.1Pobe
  • Hprt tm1(tetO-EGFP/Rac1*)Shaw
  • Hprt tm2Brd
  • Hprt tm1(CAG-Sox9,-EGFP)Akis
  • Hprt tm11Aird
  • Hprt tm4(CAG-DsRed)Brd
  • Hprt tm8(VWF-lacZ)Aird
  • Hprt tm87(Ple15-lacZ)Ems
  • Hprt tm7(VWF-lacZ)Aird
  • Hprt tm2(Penk1-lacZ)Saub
  • Hprt tm1(Trp53RE-EGFP)Dpl
  • Hprt tm9(VWF-lacZ)Aird
  • Hprt tm6(VWF-lacZ)Aird
  • Hprt tm1(Penk1-lacZ)Saub
  • Hprt tm3(ROBO4-lacZ)Aird
  • Hprt tm5(RCAN1-lacZ)Aird
  • Hprt tm1(tetO-lacZ)Frje
  • Hprt tm2(Trp53RE-EGFP)Dpl
  • Hprt tm10(VWF-lacZ)Aird

Animal Model Products

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HPRT1 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
plasma membrane 2
mitochondrion 2
cytoskeleton 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

1 PharmGKB pathway for HPRT1 Gene
1 GeneGo (Thomson Reuters) pathway 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:0001975 response to amphetamine IEA --
GO:0006164 purine nucleotide biosynthetic process IMP 9824441
GO:0006166 purine ribonucleoside salvage IMP 9824441
GO:0006168 adenine salvage IEA --
GO:0006178 guanine salvage IDA 19527031
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

Products:

  1. Drug

(67) 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 177
Thioguanine Approved Pharma Enzyme, substrate Purine antimetabolite 83
Mycophenolic acid Approved Pharma 952
Adenine Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
6-Methylmercaptopurine
6-Methylthiopurine 5'-monophosphate ribonucleotide
6-Thioguanosine monophosphate
6-Thioinosine-5'-monophosphate
genes like me logo Genes that share compounds with HPRT1: view

Transcripts for HPRT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HPRT1 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(275) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HPRT1 Gene

Hypoxanthine phosphoribosyltransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
HPRT1
ECgene alternative splicing isoforms for
HPRT1

Expression for HPRT1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HPRT1 Gene

mRNA expression in normal human tissues for HPRT1 Gene
mRNA expression by BioGPS for HPRT1 GenemRNA expression by GTEx 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, MaxQB, and MOPED for HPRT1 Gene



Protein tissue co-expression partners for HPRT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HPRT1 Gene:

HPRT1

SOURCE GeneReport for Unigene cluster for HPRT1 Gene:

Hs.412707

Evidence on tissue expression from TISSUES for HPRT1 Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Blood(2.9)
  • Lung(2.9)
  • Bone marrow(2.5)
  • Kidney(2.5)
  • Spleen(2.5)
  • Skin(2.3)
  • Heart(2.2)
  • Intestine(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HPRT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • kidney
  • stomach
Pelvis:
  • testicle
  • ureter
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with HPRT1: view

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
chimpanzee
(Pan troglodytes)
 Mammalia HPRT1 34 35
  • 99.69 (n)
dog
(Canis familiaris)
 Mammalia HPRT1 34
  • 95.72 (n)
HPRT 35
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia HPRT1 35
  • 95 (a)
 OneToMany
-- 35
  • 93 (a)
 OneToMany
LOC510369 34
  • 90.67 (n)
-- 35
  • 89 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Hprt 34 16 35
  • 93.43 (n)
rat
(Rattus norvegicus)
 Mammalia Hprt1 34
  • 93.27 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia HPRT1 35
  • 92 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 71 (a)
 OneToMany
-- 35
  • 71 (a)
 OneToMany
-- 35
  • 71 (a)
 OneToMany
-- 35
  • 62 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves HPRT1 34 35
  • 81.04 (n)
lizard
(Anolis carolinensis)
 Reptilia HPRT1 35
  • 83 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia hprt1 34
  • 79.28 (n)
MGC76223 34
zebrafish
(Danio rerio)
 Actinopterygii hprt1 34 35
  • 77.06 (n)
Dr.1668 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9341 34
worm
(Caenorhabditis elegans)
 Secernentea CELE_Y105E8B.5 34
  • 51.89 (n)
Y105E8B.5 36 35
  • 48 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 60 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4587 34
Species where no ortholog for HPRT1 was found in the sources mined by GeneCards:
  • 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
rs137852477 Pathogenic, Gout HPRT-related (GOUT-HPRT) [MIM:300323] 134,490,199(+) TTGAT(G/T)GTGGA reference, missense
rs137852478 Pathogenic, Gout HPRT-related (GOUT-HPRT) [MIM:300323] 134,475,285(+) GCTGG(A/T)TTACA reference, missense
rs137852479 Pathogenic, Gout HPRT-related (GOUT-HPRT) [MIM:300323] 134,498,677(+) CAGGG(A/G)TTTGA reference, missense
rs137852480 Pathogenic, Lesch-Nyhan syndrome (LNS) [MIM:300322] 134,473,453(+) TGGAC(C/T)AATTA reference, missense
rs137852481 Pathogenic, Lesch-Nyhan syndrome (LNS) [MIM:300322] 134,475,268(+) AAATT(A/C)TTTGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HPRT1 Gene

Variant ID Type Subtype PubMed ID
nsv472870 CNV novel sequence insertion 20440878
nsv477091 CNV novel sequence insertion 20440878

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)
HPRT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HPRT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • complete hypoxanthine-guanine phosphoribosyltransferase deficiency
hprt-related gout
  • kelley-seegmiller syndrome
gout, hprt1-related
  • kelley-seegmiller syndrome
gout
  • articular gout
purine-pyrimidine metabolic disorder
  • inborn errors of purine-pyrimidine metabolism
- elite association - COSMIC cancer census association via MalaCards
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:2896620, 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:20544509, ECO:0000269 PubMed:2071157, ECO:0000269 PubMed:2246854, ECO:0000269 PubMed:2347587, ECO:0000269 PubMed:2358296, ECO:0000269 PubMed:24940672, ECO:0000269 PubMed:2572141, 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. Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. (PMID: 20045992) Kudo M. … Hiratsuka M. (Drug Metab. Pharmacokinet. 2009) 3 22 46 64
  2. Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease. (PMID: 19706768) Nguyen T. … Finette B.A. (Cancer Res. 2009) 3 22 46 64
  3. Sequential evaluation of thiopurine methyltransferase, inosine triphosphate pyrophosphatase, and HPRT1 genes polymorphisms to explain thiopurines' toxicity and efficacy. (PMID: 17697207) Palmieri O. … Annese V. (Aliment. Pharmacol. Ther. 2007) 3 22 46 64
  4. Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. (PMID: 17027311) Yamada Y. … Wakamatsu N. (Mol. Genet. Metab. 2007) 3 4 22 64
  5. The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle. (PMID: 15990111) Keough D.T. … Guddat L.W. (J. Mol. Biol. 2005) 3 4 22 64

Products for HPRT1 Gene

  • Cloud-Clone Corp. Antibodies for HPRT1
  • Cloud-Clone Corp. Proteins for HPRT1
  • Cloud-Clone Corp Assay Kits for HPRT1
  • Addgene plasmids for HPRT1

Sources for HPRT1 Gene

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