Details for: HPRT1

Gene ID: 3251

Symbol: HPRT1

Ensembl ID: ENSG00000165704

Description: hypoxanthine phosphoribosyltransferase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 173.4544
    Cell Significance Index: -26.9800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 105.5025
    Cell Significance Index: -26.7600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 90.9192
    Cell Significance Index: -42.9300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 89.4015
    Cell Significance Index: -36.3200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 79.6290
    Cell Significance Index: -40.9600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 64.0217
    Cell Significance Index: -42.9600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 32.0612
    Cell Significance Index: -39.5300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.7155
    Cell Significance Index: -39.0600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.4153
    Cell Significance Index: -30.5800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.7120
    Cell Significance Index: -42.2700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.5881
    Cell Significance Index: -12.2300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.8421
    Cell Significance Index: 110.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.7845
    Cell Significance Index: 112.4700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.7625
    Cell Significance Index: 21.0100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.7160
    Cell Significance Index: 344.2300
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.5314
    Cell Significance Index: 21.4800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.2166
    Cell Significance Index: 436.3600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.1176
    Cell Significance Index: 58.6800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.1129
    Cell Significance Index: 129.7000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.9661
    Cell Significance Index: 62.3300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.8850
    Cell Significance Index: 59.5100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.8438
    Cell Significance Index: 24.0800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.7992
    Cell Significance Index: 94.2500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.7886
    Cell Significance Index: 23.1600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.7689
    Cell Significance Index: 34.0100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.7336
    Cell Significance Index: 27.7800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6051
    Cell Significance Index: 83.1000
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.5920
    Cell Significance Index: 4.4700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4556
    Cell Significance Index: 201.4500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4543
    Cell Significance Index: 90.1500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4510
    Cell Significance Index: 85.8300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.4385
    Cell Significance Index: 11.5300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4316
    Cell Significance Index: 42.6900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4006
    Cell Significance Index: 218.7500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3694
    Cell Significance Index: 17.3600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3674
    Cell Significance Index: 47.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3630
    Cell Significance Index: 44.6400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.3437
    Cell Significance Index: 9.2000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2998
    Cell Significance Index: 21.2000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2786
    Cell Significance Index: 47.5700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2696
    Cell Significance Index: 43.8600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2476
    Cell Significance Index: 6.7400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2419
    Cell Significance Index: 43.6100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2329
    Cell Significance Index: 12.1000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2217
    Cell Significance Index: 153.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1920
    Cell Significance Index: 14.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1113
    Cell Significance Index: 3.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0750
    Cell Significance Index: 4.6100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0676
    Cell Significance Index: 2.3500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0657
    Cell Significance Index: 123.7000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0653
    Cell Significance Index: 0.8100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0628
    Cell Significance Index: 1.8100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0555
    Cell Significance Index: 1.2200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0549
    Cell Significance Index: 2.5600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0395
    Cell Significance Index: 60.8500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0328
    Cell Significance Index: 44.5800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0273
    Cell Significance Index: 20.0500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0198
    Cell Significance Index: 0.3400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0190
    Cell Significance Index: 35.0200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0010
    Cell Significance Index: 0.6500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0036
    Cell Significance Index: -1.6400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0059
    Cell Significance Index: -4.3600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0252
    Cell Significance Index: -14.2300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0294
    Cell Significance Index: -22.2900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0377
    Cell Significance Index: -23.5500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0388
    Cell Significance Index: -3.9600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0466
    Cell Significance Index: -6.7700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0654
    Cell Significance Index: -1.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0697
    Cell Significance Index: -3.9100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0882
    Cell Significance Index: -18.5700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1010
    Cell Significance Index: -4.5800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1122
    Cell Significance Index: -14.3900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1133
    Cell Significance Index: -3.6300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1181
    Cell Significance Index: -33.9700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1680
    Cell Significance Index: -19.2500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1774
    Cell Significance Index: -13.6100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1791
    Cell Significance Index: -3.8800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1998
    Cell Significance Index: -7.0200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2310
    Cell Significance Index: -18.3000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2681
    Cell Significance Index: -6.4300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2700
    Cell Significance Index: -5.7500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3238
    Cell Significance Index: -36.9600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3314
    Cell Significance Index: -34.5100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3454
    Cell Significance Index: -9.9000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.4427
    Cell Significance Index: -3.6100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4613
    Cell Significance Index: -11.5300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.4816
    Cell Significance Index: -7.3200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4977
    Cell Significance Index: -6.7900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5107
    Cell Significance Index: -10.8400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.5536
    Cell Significance Index: -12.7900
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.6350
    Cell Significance Index: -4.1400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6537
    Cell Significance Index: -34.0500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6722
    Cell Significance Index: -11.2500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6952
    Cell Significance Index: -42.6200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7011
    Cell Significance Index: -22.3300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.7134
    Cell Significance Index: -19.0500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.7170
    Cell Significance Index: -18.4300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.7753
    Cell Significance Index: -15.5700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7850
    Cell Significance Index: -25.7000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.8196
    Cell Significance Index: -24.1400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** HPRT1 is a cytosolic enzyme that catalyzes the conversion of hypoxanthine and guanine to their respective nucleoside monophosphates. This reaction is a critical step in the salvage pathway, which recycles purine nucleotides from catabolic products, thereby conserving energy and resources. HPRT1 is also involved in the regulation of cell growth, differentiation, and survival. Its activity is essential for maintaining the balance of purine nucleotides, which are required for DNA synthesis, RNA processing, and energy metabolism. **Pathways and Functions:** HPRT1 is involved in several key pathways, including: 1. **Adenine metabolic process:** HPRT1 plays a critical role in the salvage pathway of adenine, a purine nucleotide that is essential for DNA synthesis and energy metabolism. 2. **Amp salvage:** HPRT1 is involved in the salvage pathway of adenosine, a purine nucleotide that is involved in various cellular processes, including energy metabolism and neurotransmission. 3. **Guanine salvage:** HPRT1 is involved in the salvage pathway of guanine, a purine nucleotide that is essential for DNA synthesis and energy metabolism. 4. **Purine nucleotide biosynthetic process:** HPRT1 is involved in the synthesis of purine nucleotides, including guanine and hypoxanthine, which are essential for DNA synthesis and energy metabolism. 5. **Cell growth and differentiation:** HPRT1 is involved in regulating cell growth and differentiation, particularly in the context of immune function and development. **Clinical Significance:** HPRT1 is a crucial gene that has been implicated in several diseases, including: 1. **Leukemia:** HPRT1 is a well-known tumor suppressor gene that is deficient in patients with Leukemia. 2. **Neurological disorders:** HPRT1 has been implicated in various neurological disorders, including Parkinson's disease and Huntington's disease, where it is involved in regulating dopamine metabolism and neurotransmission. 3. **Immunodeficiency diseases:** HPRT1 is involved in regulating immune function and is deficient in patients with immunodeficiency diseases, such as Leukocyte Adhesion Deficiency (LAD). In conclusion, HPRT1 is a vital enzyme that plays a critical role in maintaining the balance of nucleotide pools in cells, particularly in the context of immune function and development. Its dysregulation has been implicated in several diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 2727652252

Symbol: HPRT_HUMAN

Name: Hypoxanthine-guanine phosphoribosyltransferase

UniProtKB Accession Codes:

P00492 A6NHF0 B2R8M9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 1 CTD 1 ChEBI 15 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 7 DrugCentral 1 EC 2 EMBL 13 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 32 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 23 PDBsum 23 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 4 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 6300847

Title: Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.

PubMed ID: 6300847

DOI: 10.1073/pnas.80.2.477

PubMed ID: 2341149

Title: Automated DNA sequencing of the human HPRT locus.

PubMed ID: 2341149

DOI: 10.1016/0888-7543(90)90493-e

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7107641

Title: Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.

PubMed ID: 7107641

DOI: 10.1016/s0021-9258(18)33920-6

PubMed ID: 3023844

Title: Fine structure of the human hypoxanthine phosphoribosyltransferase gene.

PubMed ID: 3023844

DOI: 10.1128/mcb.6.2.393-403.1986

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25114211

Title: Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.

PubMed ID: 25114211

DOI: 10.1073/pnas.1413825111

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 8044844

Title: The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP.

PubMed ID: 8044844

DOI: 10.1016/0092-8674(94)90301-8

PubMed ID: 10360366

Title: The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor.

PubMed ID: 10360366

DOI: 10.1038/9376

PubMed ID: 10338013

Title: Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding.

PubMed ID: 10338013

DOI: 10.1110/ps.8.5.1023

PubMed ID: 1487231

Title: A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

PubMed ID: 1487231

DOI: 10.1007/bf00220062

PubMed ID: 15990111

Title: The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle.

PubMed ID: 15990111

DOI: 10.1016/j.jmb.2005.05.061

PubMed ID: 19527031

Title: Inhibition of hypoxanthine-guanine phosphoribosyltransferase by acyclic nucleoside phosphonates: a new class of antimalarial therapeutics.

PubMed ID: 19527031

DOI: 10.1021/jm900267n

PubMed ID: 6853490

Title: Human hypoxanthine-guanine phosphoribosyltransferase.

PubMed ID: 6853490

DOI: 10.1016/s0021-9258(18)32432-3

PubMed ID: 6853716

Title: Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.

PubMed ID: 6853716

DOI: 10.1172/jci110884

PubMed ID: 6572373

Title: Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.

PubMed ID: 6572373

DOI: 10.1073/pnas.80.3.870

PubMed ID: 6706936

Title: Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.

PubMed ID: 6706936

DOI: 10.1016/s0021-9258(17)43616-7

PubMed ID: 3358423

Title: Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.

PubMed ID: 3358423

PubMed ID: 3384338

Title: Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).

PubMed ID: 3384338

DOI: 10.1016/0378-1119(88)90536-7

PubMed ID: 3265398

Title: Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).

PubMed ID: 3265398

DOI: 10.1016/0378-1119(88)90601-4

PubMed ID: 2896620

Title: Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

PubMed ID: 2896620

DOI: 10.1007/bf00291707

PubMed ID: 3198771

Title: Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.

PubMed ID: 3198771

DOI: 10.1172/jci113839

PubMed ID: 3148064

Title: Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.

PubMed ID: 3148064

DOI: 10.1007/bf01800364

PubMed ID: 2572141

Title: Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.

PubMed ID: 2572141

DOI: 10.1111/j.1442-200x.1989.tb01306.x

PubMed ID: 2909537

Title: Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).

PubMed ID: 2909537

DOI: 10.1016/s0021-9258(17)31289-9

PubMed ID: 2910902

Title: Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

PubMed ID: 2910902

DOI: 10.1172/jci113846

PubMed ID: 2738157

Title: Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

PubMed ID: 2738157

DOI: 10.1172/jci114160

PubMed ID: 2928313

Title: Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

PubMed ID: 2928313

DOI: 10.1073/pnas.86.6.1919

PubMed ID: 2347587

Title: Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

PubMed ID: 2347587

DOI: 10.1016/0888-7543(90)90545-6

PubMed ID: 2358296

Title: Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

PubMed ID: 2358296

DOI: 10.1007/bf00276334

PubMed ID: 2246854

Title: Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

PubMed ID: 2246854

DOI: 10.1007/bf01799570

PubMed ID: 2018042

Title: Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

PubMed ID: 2018042

PubMed ID: 2071157

Title: Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

PubMed ID: 2071157

DOI: 10.1016/0888-7543(91)90341-b

PubMed ID: 1937471

Title: Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.

PubMed ID: 1937471

DOI: 10.1007/bf00201727

PubMed ID: 1840476

Title: Identification of two independent Japanese mutant HPRT genes using the PCR technique.

PubMed ID: 1840476

DOI: 10.1007/978-1-4615-7703-4_27

PubMed ID: 1551676

Title: The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

PubMed ID: 1551676

DOI: 10.1007/bf02265300

PubMed ID: 1301916

Title: Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.

PubMed ID: 1301916

DOI: 10.1093/hmg/1.6.427

PubMed ID: 7987318

Title: Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.

PubMed ID: 7987318

DOI: 10.1093/hmg/3.8.1377

PubMed ID: 7627191

Title: Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.

PubMed ID: 7627191

DOI: 10.1002/humu.1380050413

PubMed ID: 9003484

Title: An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans.

PubMed ID: 9003484

DOI: 10.1007/s004390050300

PubMed ID: 9452051

Title: The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.

PubMed ID: 9452051

DOI: 10.1002/humu.1380110130

PubMed ID: 15571223

Title: Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

PubMed ID: 15571223

DOI: 10.1081/ncn-200027439

PubMed ID: 17027311

Title: Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

PubMed ID: 17027311

DOI: 10.1016/j.ymgme.2006.08.013

PubMed ID: 20544509

Title: Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

PubMed ID: 20544509

DOI: 10.1080/15257771003738691

PubMed ID: 24940672

Title: Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

PubMed ID: 24940672

DOI: 10.1080/15257770.2013.865743

Sequence Information:

  • Length: 218
  • Mass: 24579
  • Checksum: 1928EE69517CCB40
  • Sequence:
    • MATRSPGVVI SDDEPGYDLD LFCIPNHYAE DLERVFIPHG LIMDRTERLA RDVMKEMGGH 
HIVALCVLKG GYKFFADLLD YIKALNRNSD RSIPMTVDFI RLKSYCNDQS TGDIKVIGGD 
DLSTLTGKNV LIVEDIIDTG KTMQTLLSLV RQYNPKMVKV ASLLVKRTPR SVGYKPDFVG 
FEIPDKFVVG YALDYNEYFR DLNHVCVISE TGKAKYKA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.