HPRT1 Gene (Protein Coding)

Hypoxanthine Phosphoribosyltransferase 1

GC0XP134460
GIFtS:
49
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 i... See more...

Aliases for HPRT1 Gene

Aliases for HPRT1 Gene

  • Hypoxanthine Phosphoribosyltransferase 1 2 3 5
  • HGPRT 2 3 4
  • Hypoxanthine-Guanine Phosphoribosyltransferase 3 4
  • EC 2.4.2.8 4 50
  • HGPRTase 3 4
  • HPRT 3 4
  • Hypoxanthine-Guanine Phosphoribosyltransferase 1 3
  • Testicular Tissue Protein Li 89 3
  • Lesch-Nyhan Syndrome 2
  • HPRT1 5

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 Hyperuricemia, Hprt-Related. Among its related pathways are Nucleotide Metabolism and purine nucleotides de novo biosynthesis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and nucleotide binding. An important paralog of this gene is PRTFDC1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for HPRT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HPRT1 Gene

Genomics for HPRT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HPRT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ134459 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.5 536 2.6 IKZF1 MYC ZNF592 POLR2A CTCF REST SMAD5 CHD2 TBP ZNF341 HPRT1 PABIR2 PHF6 RF00017-8109 RF00017-8108 RF00017-8107 PLAC1
GH0XJ134453 Promoter 0.5 EPDnew 250.4 -6.4 -6356 0.1 HMBOX1 CBFA2T3 piR-48820-103 HPRT1 PHF6 RF00017-8107
GH0XJ134431 Enhancer 0.5 Ensembl 14.1 -28.2 -28164 0.8 JUND CEBPB EP300 JUNB POLR2A HPRT1 HSALNG0140223 lnc-HPRT1-5 PHF6 RF00017-8107
GH0XJ134482 Enhancer 0.3 Ensembl 14.2 +22.6 22635 1.6 MYC MAX HPRT1 MIR503HG RF00017-8110 NONHSAG055347.2-001 RF00017-8108 RF00017-8107 PLAC1
GH0XJ134457 Enhancer 0.6 Ensembl 0.7 -2.3 -2253 0.6 NFIC TBP ZEB2 MEIS2 DPF2 NR2C1 KLF1 GABPB1 ZNF24 MZF1 HPRT1 piR-48820-103 PHF6 RF00017-8107 RF00017-8108
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HPRT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HPRT1

Top Transcription factor binding sites by QIAGEN in the HPRT1 gene promoter:
  • AP-2gamma
  • FOXL1
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Nkx2-2
  • p53
  • POU2F1
  • POU2F1a
  • POU6F1 (c2)

Genomic Locations for HPRT1 Gene

Latest Assembly
chrX:134,460,165-134,520,513
(GRCh38/hg38)
Size:
60,349 bases
Orientation:
Plus strand

Previous Assembly
chrX:133,594,195-133,634,698
(GRCh37/hg19 by Entrez Gene)
Size:
40,504 bases
Orientation:
Plus strand

chrX:133,594,183-133,654,543
(GRCh37/hg19 by Ensembl)
Size:
60,361 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

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  • 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 Lys103 and Lys175
  • Modification sites at PhosphoSitePlus

Other Protein References for HPRT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for HPRT1

Domains & Families for HPRT1 Gene

Gene Families for HPRT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HPRT1 Gene

InterPro:
Blocks:
  • Purine/pyrimidine phosphoribosyl transferase

Suggested Antigen Peptide Sequences for HPRT1 Gene

GenScript: Design optimal peptide antigens:
  • Hypoxanthine-guanine phosphoribosyltransferase (HPRT_HUMAN)
  • HPRT1 protein (Q6LET3_HUMAN)

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

Function for HPRT1 Gene

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  6. Cell Lines for research

Molecular function for HPRT1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=diphosphate + IMP = 5-phospho-alpha-D-ribose 1-diphosphate + hypoxanthine; Xref=Rhea:RHEA:17973, ChEBI:CHEBI:17368, ChEBI:CHEBI:33019, ChEBI:CHEBI:58017, ChEBI:CHEBI:58053; EC=2.4.2.8; Evidence={ECO:0000269|PubMed:10338013, ECO:0000269|PubMed:19527031};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=diphosphate + GMP = 5-phospho-alpha-D-ribose 1-diphosphate + guanine; Xref=Rhea:RHEA:25424, ChEBI:CHEBI:16235, ChEBI:CHEBI:33019, ChEBI:CHEBI:58017, ChEBI:CHEBI:58115; EC=2.4.2.8; Evidence={ECO:0000269|PubMed:10338013, ECO:0000269|PubMed:19527031};.
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};
GENATLAS Biochemistry:
hypoxanthine phosphoribosyltransferase,purine salvage pathway

Enzyme Numbers (IUBMB) for HPRT1 Gene

Phenotypes From GWAS Catalog 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 IBA,IDA 10360366
GO:0004422 hypoxanthine phosphoribosyltransferase activity IBA,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 Hprt<tm1.1Pobe>
  • Hprt Hprt<tm1(Nfkb1-EGFP)Cjo>
  • Hprt Hprt<tm5(Myh7-GFP,Myh6-CFP)Unc>
  • Hprt Hprt<tm73(Ple142-lacZ)Ems>
  • Hprt Hprt<tm1(tetO-EGFP/Rac1*)Shaw>
  • Hprt Hprt<tm1a(EUCOMM)Hmgu>
  • Hprt Hprt<tm1(CAG-Sox9,-EGFP)Akis>
  • Hprt Hprt<tm2Brd>
  • Hprt Hprt<tm10(VWF-lacZ)Aird>
  • Hprt Hprt<tm11Aird>
  • Hprt Hprt<tm1(Penk1-lacZ)Saub>
  • Hprt Hprt<tm1(tetO-lacZ)Frje>
  • Hprt Hprt<tm1(Trp53RE-EGFP)Dpl>
  • Hprt Hprt<tm2(Penk1-lacZ)Saub>
  • Hprt Hprt<tm2(Trp53RE-EGFP)Dpl>
  • Hprt Hprt<tm3(ROBO4-lacZ)Aird>
  • Hprt Hprt<tm4(CAG-DsRed)Brd>
  • Hprt Hprt<tm5(RCAN1-lacZ)Aird>
  • Hprt Hprt<tm6(VWF-lacZ)Aird>
  • Hprt Hprt<tm7(VWF-lacZ)Aird>
  • Hprt Hprt<tm87(Ple15-lacZ)Ems>
  • Hprt Hprt<tm8(VWF-lacZ)Aird>
  • Hprt Hprt<tm9(VWF-lacZ)Aird>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HPRT1

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 4
plasma membrane 3
cytoskeleton 3
mitochondrion 3
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HPRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 6300847
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 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 GeneGo (Thomson Reuters) pathway for HPRT1 Gene
  • ATP/ITP metabolism

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:0001913 T cell mediated cytotoxicity IEA --
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 IBA 21873635
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

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(68) 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 Target, inhibitor 237
Azathioprine Approved Pharma Enzyme, substrate 237
Thioguanine Approved Pharma Enzyme, substrate Purine antimetabolite 91
Mycophenolic acid Approved Pharma 1134
Adenine Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
 14000-31-8
6-Methylmercaptopurine
  • Thiopurine S-methylether
  • Methylmercaptopurine
  • 6-Methylmercaptopurine
  • 6-Methylthiopurine
6-Methylthiopurine 5'-monophosphate ribonucleotide
  • 6-Methylthioinosine-5'-monophosphate
  • 6-Methylthioinosine-5'-monophosphoric acid
  • 6-Methylthiopurine 5'-monophosphoric acid ribonucleotide
  • Methylthioinosine-5'-monophospate
  • Methylthioinosine 5'-monophospate
 7021-52-5
6-Thioguanylic acid
  • 6-Thioguanosine monophosphoric acid
  • 6-TG Nucleotide
  • 6-Thioguanine nucleotide
  • 6-Thioguanosine-5'-phosphate
6-Thioinosine-5'-monophosphate
  • 9-(5-Phospho-1-ribofuranosyl)-6-mercaptopurine
  • 6-Thioinosine-5'-monophosphoric acid
  • 6-TIMP
  • 6-Mercaptopurine ribonucleoside 5'-monophosphate
  • 6-Thio-imp
genes like me logo Genes that share compounds with HPRT1: view

Transcripts for HPRT1 Gene

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mRNA/cDNA for HPRT1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HPRT1

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

No ASD Table

Relevant External Links for HPRT1 Gene

GeneLoc Exon Structure for
HPRT1

Expression for HPRT1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for HPRT1 Gene



Protein tissue co-expression partners for HPRT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HPRT1

SOURCE GeneReport for Unigene cluster for HPRT1 Gene:

Hs.412707

Evidence on tissue expression from TISSUES for HPRT1 Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Spleen(3.2)
  • Kidney(3.1)
  • Heart(3.1)
  • Blood(3)
  • Bone marrow(3)
  • Muscle(3)
  • Intestine(2.9)
  • Lung(2.9)
  • Skin(2.9)
  • Lymph node(2.9)
  • Stomach(2.6)
  • Thyroid gland(2.5)
  • Pancreas(2.5)
  • Adrenal gland(2.4)
  • Eye(2.3)
  • Bone(2.2)

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
Regions:
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

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 29 30
  • 99.69 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HPRT1 29
  • 95.72 (n)
HPRT 30
  • 94 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HPRT1 30
  • 95 (a)
 OneToMany
-- 30
  • 93 (a)
 OneToMany
LOC510369 29
  • 90.67 (n)
-- 30
  • 89 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Hprt 29 16 30
  • 93.43 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Hprt1 29
  • 93.27 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia HPRT1 30
  • 92 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 71 (a)
 OneToMany
-- 30
  • 71 (a)
 OneToMany
-- 30
  • 71 (a)
 OneToMany
-- 30
  • 62 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves HPRT1 29 30
  • 81.04 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia HPRT1 30
  • 83 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia hprt1 29
  • 79.28 (n)
MGC76223 29
Zebrafish
(Danio rerio)
 Actinopterygii hprt1 29 30
  • 77.06 (n)
 OneToOne
Dr.1668 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9341 29
Worm
(Caenorhabditis elegans)
 Secernentea CELE_Y105E8B.5 29
  • 51.89 (n)
Y105E8B.5 30 31
  • 48 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 60 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.4587 29
Species where no ortholog for HPRT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for HPRT1: view image
Alliance of Genome Resources:
Additional Orthologs for HPRT1

Paralogs for HPRT1 Gene

Paralogs for HPRT1 Gene

(1) SIMAP similar genes for HPRT1 Gene using alignment to 2 proteins:

  • HPRT_HUMAN
  • Q6LET3_HUMAN

Pseudogenes.org Pseudogenes for HPRT1 Gene

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

Variants for HPRT1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HPRT1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
10032 Pathogenic: HPRT CHICAGO; Lesch-Nyhan syndrome 134,473,386(+) C/CT
HPRT CHICAGO 		NONSENSE
10077 Pathogenic: HPRT CHERMSIDE; Lesch-Nyhan syndrome 134,493,591(+) G/A
HPRT CHERMSIDE 		SPLICE_DONOR
10078 Pathogenic: HPRT COORPAROO; Lesch-Nyhan syndrome 134,473,401(+) A/AT
HPRT COORPAROO 		FRAMESHIFT
1011699 Uncertain Significance: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 134,486,501(+) G/A
NM_000194.3(HPRT1):c.355G>A (p.Gly119Arg) 		MISSENSE
1013080 Likely Benign: not provided 134,500,044(+) T/C
NM_000194.3(HPRT1):c.624T>C (p.Ile208=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HPRT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for HPRT1 Gene

Human Gene Mutation Database (HGMD)
HPRT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HPRT1
Leiden Open Variation Database (LOVD)
HPRT1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPRT1 Gene

Disorders for HPRT1 Gene

MalaCards: The human disease database

(47) MalaCards diseases for HPRT1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
lesch-nyhan syndrome
  • lns
hyperuricemia, hprt-related
  • hrh
gout
  • articular gout
hyperuricemia
  • blood urate raized
nephrolithiasis, uric acid
  • nephrolithiasis, uric acid, susceptibility to
- 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
  • 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 variants 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: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 variants affecting the gene represented in this entry.

Genatlas disease for HPRT1 Gene

Lesch Nyhan syndrome,including severe juvenile gout

Additional Disease Information for HPRT1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 metabolism and pharmacokinetics 2009) 3 22 40
  2. Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease. (PMID: 19706768) Nguyen T … Finette BA (Cancer research 2009) 3 22 40
  3. Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. (PMID: 17027311) Yamada Y … Wakamatsu N (Molecular genetics and metabolism 2007) 3 4 22
  4. Sequential evaluation of thiopurine methyltransferase, inosine triphosphate pyrophosphatase, and HPRT1 genes polymorphisms to explain thiopurines' toxicity and efficacy. (PMID: 17697207) Palmieri O … Annese V (Alimentary pharmacology & therapeutics 2007) 3 22 40
  5. The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle. (PMID: 15990111) Keough DT … Guddat LW (Journal of molecular biology 2005) 3 4 22

ExternalLinks

View latest publications for HPRT1 gene in Mastermind

Products for HPRT1 Gene

  • Addgene plasmids for HPRT1

Sources for HPRT1 Gene