HPRT1 Gene (Protein Coding)

Hypoxanthine Phosphoribosyltransferase 1

GC0XP134460
GIFtS:
48
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
  • Hypoxanthine-Guanine Phosphoribosyltransferase 3 4
  • EC 2.4.2.8 4 54
  • 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 Kelley-Seegmiller Syndrome. Among its related pathways are Metabolism of nucleotides and Nucleotide Metabolism. 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 for HPRT1 Gene

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 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 750.4 +7.8 7759 2.4 POLR2A L3MBTL2 NKRF ZFX MLLT1 SP7 ZSCAN21 ZNF687 EGR1 IKZF1 HPRT1 ZNF75D RTL8A ENSG00000226107 RTL8C SMIM10L2B GPC3 FAM122B RF00017-8732 RF00017-8731
GH0XJ134453 Promoter 0.4 EPDnew 750.6 +1.0 967 0.1 CBFA2T3 HPRT1 piR-48820-103 RF00017-8732 RF00017-8730
GH0XJ134452 Enhancer 0.2 Ensembl 750.6 +0.1 59 0.2 HPRT1 piR-48820-103 RF00017-8732 RF00017-8730
GH0XJ134431 Enhancer 0.5 Ensembl 14.2 -20.9 -20941 1 POLR2A CEBPB JUN JUND EP300 JUNB HPRT1 lnc-HPRT1-5 piR-32285-105 RF00017-8730
GH0XJ134482 Enhancer 0.3 Ensembl 14.1 +30.0 29958 1.6 MYC MAX HPRT1 MIR503HG RF00017-8733 NONHSAG055347.2-001 RF00017-8731 RF00017-8730
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HPRT1 Gene
chrX:134,452,842-134,520,513
(GRCh38/hg38)
Size:
67,672 bases
Orientation:
Plus strand
chrX:133,594,175-133,654,543
(GRCh37/hg19)
Size:
60,369 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 Lys103 and Lys175
  • Modification sites at PhosphoSitePlus

Other Protein References for HPRT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • 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

Blocks:
InterPro:
ProtoNet:

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

Products:

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

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

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids 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
cytosol 5
nucleus 3
plasma membrane 2
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1

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 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: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 IBA,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

Products:

  1. Drug

(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 226
Azathioprine Approved Pharma Target, inhibitor 212
Thioguanine Approved Pharma Enzyme, substrate Purine antimetabolite 88
Mycophenolic acid Approved Pharma 1055
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
  • PYROphosphATE
 14000-31-8
6-Methylmercaptopurine
  • 6-Methylmercaptopurine
  • Thiopurine S-methylether
  • Methylmercaptopurine
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-Thioguanosine monophosphate
  • 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HPRT1 Gene

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

CRISPR Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
HPRT1

Expression for HPRT1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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 GTEx for HPRT1 GenemRNA expression by BioGPS 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

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(2.2)
  • 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
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 33 32
  • 99.69 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia HPRT1 32
  • 95.72 (n)
HPRT 33
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia HPRT1 33
  • 95 (a)
 OneToMany
-- 33
  • 93 (a)
 OneToMany
LOC510369 32
  • 90.67 (n)
-- 33
  • 89 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Hprt 17 33 32
  • 93.43 (n)
rat
(Rattus norvegicus)
 Mammalia Hprt1 32
  • 93.27 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia HPRT1 33
  • 92 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 71 (a)
 OneToMany
-- 33
  • 71 (a)
 OneToMany
-- 33
  • 71 (a)
 OneToMany
-- 33
  • 62 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves HPRT1 33 32
  • 81.04 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia HPRT1 33
  • 83 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia hprt1 32
  • 79.28 (n)
MGC76223 32
zebrafish
(Danio rerio)
 Actinopterygii hprt1 33 32
  • 77.06 (n)
 OneToOne
Dr.1668 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9341 32
worm
(Caenorhabditis elegans)
 Secernentea CELE_Y105E8B.5 32
  • 51.89 (n)
Y105E8B.5 33 34
  • 48 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 60 (a)
 OneToMany
Cin.4587 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4587 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for HPRT1: view image

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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for HPRT1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1135401801 pathogenic, Lesch-Nyhan syndrome 134,473,378(+) G/T coding_sequence_variant, missense_variant
rs1228634091 Gout HPRT-related (GOUT-HPRT) [MIM:300323] 134,475,225(+) A/G coding_sequence_variant, missense_variant
rs137852477 pathogenic, other, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ANN ARBOR, Gout HPRT-related (GOUT-HPRT) [MIM:300323] 134,490,199(+) T/G coding_sequence_variant, missense_variant
rs137852478 pathogenic, other, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ARLINGTON, Gout HPRT-related (GOUT-HPRT) [MIM:300323] 134,475,285(+) A/T coding_sequence_variant, missense_variant
rs137852479 pathogenic, other, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ASHVILLE, Gout HPRT-related (GOUT-HPRT) [MIM:300323] 134,498,677(+) A/G coding_sequence_variant, missense_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HPRT1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for HPRT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lesch-nyhan syndrome
  • lns
kelley-seegmiller syndrome
  • gout, hprt-related
gout
  • articular gout
hyperuricemia
  • blood urate raized
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
  • 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.
  • 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.

Genatlas disease for HPRT1 Gene

Lesch Nyhan syndrome,including severe juvenile gout

Additional Disease Information for HPRT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. 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 23 43 56
  2. Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease. (PMID: 19706768) Nguyen T … Finette BA (Cancer research 2009) 3 23 43 56
  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 (Alimentary pharmacology & therapeutics 2007) 3 23 43 56
  4. 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 23 56
  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 23 56

ExternalLinks

View latest publications for HPRT1 gene in Mastermind

Products for HPRT1 Gene

  • Addgene plasmids for HPRT1

Sources for HPRT1 Gene