Details for: HPRT1

Gene ID: 3251

Symbol: HPRT1

Ensembl ID: ENSG00000165704

Description: hypoxanthine phosphoribosyltransferase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 2.39
    Marker Score: 3433
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 2.39
    Marker Score: 2489.5
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.32
    Marker Score: 13751
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.12
    Marker Score: 3519
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.98
    Marker Score: 2097
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.93
    Marker Score: 71365
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.93
    Marker Score: 5501
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.9
    Marker Score: 72224
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.88
    Marker Score: 115364
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.8
    Marker Score: 7474
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.72
    Marker Score: 16351
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.71
    Marker Score: 25568
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.7
    Marker Score: 33866
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.7
    Marker Score: 17518
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.69
    Marker Score: 1704
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.68
    Marker Score: 15793
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.68
    Marker Score: 14396
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.65
    Marker Score: 6361
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.64
    Marker Score: 4472
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.64
    Marker Score: 6696
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.62
    Marker Score: 4345
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.62
    Marker Score: 12408
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.55
    Marker Score: 1053
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.55
    Marker Score: 3140
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.52
    Marker Score: 452
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.5
    Marker Score: 747
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.49
    Marker Score: 2297
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.49
    Marker Score: 3748
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.47
    Marker Score: 1101
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.45
    Marker Score: 166426
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.45
    Marker Score: 5898
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.45
    Marker Score: 1048
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.44
    Marker Score: 414
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.42
    Marker Score: 1036
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.42
    Marker Score: 455
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.41
    Marker Score: 1519
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 1.35
    Marker Score: 720
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.33
    Marker Score: 1886
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.33
    Marker Score: 8486
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.3
    Marker Score: 13173
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.29
    Marker Score: 1308
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.28
    Marker Score: 1812
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.26
    Marker Score: 2995
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.26
    Marker Score: 1331
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.25
    Marker Score: 3044.5
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.24
    Marker Score: 508
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.24
    Marker Score: 3668
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.24
    Marker Score: 432.5
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.22
    Marker Score: 1477
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.21
    Marker Score: 14118.5
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.21
    Marker Score: 1109.5
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.2
    Marker Score: 2130
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.19
    Marker Score: 1125
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.17
    Marker Score: 614
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.16
    Marker Score: 681
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.13
    Marker Score: 622
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.12
    Marker Score: 1959
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.12
    Marker Score: 3099
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.12
    Marker Score: 11093
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.12
    Marker Score: 1487
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.09
    Marker Score: 379
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 1.08
    Marker Score: 325
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.08
    Marker Score: 4659
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.07
    Marker Score: 9211
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.06
    Marker Score: 429
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.06
    Marker Score: 553
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.06
    Marker Score: 2074
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.06
    Marker Score: 3911
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.05
    Marker Score: 665
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.05
    Marker Score: 247
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.04
    Marker Score: 2172.5
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.04
    Marker Score: 1298
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.02
    Marker Score: 648
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.02
    Marker Score: 504.5
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.01
    Marker Score: 10165
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.01
    Marker Score: 493
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 1
    Marker Score: 219.5
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 1
    Marker Score: 625
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71600
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47825
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.99
    Marker Score: 237
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.99
    Marker Score: 385
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.99
    Marker Score: 565
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.99
    Marker Score: 674
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.98
    Marker Score: 654
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30372
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.98
    Marker Score: 6244
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.98
    Marker Score: 562
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 0.97
    Marker Score: 1732
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.97
    Marker Score: 1422
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.96
    Marker Score: 2622
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.96
    Marker Score: 12943
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.96
    Marker Score: 24591
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.95
    Marker Score: 359
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.95
    Marker Score: 329
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2389
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.94
    Marker Score: 641
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.93
    Marker Score: 946
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.93
    Marker Score: 1519.5
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.92
    Marker Score: 4259

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Other Information

**Key characteristics:** - The protein is a glycoprotein with a molecular weight of approximately 110 kDa. - It is expressed in a variety of cell types, including oogonial cells, erythroid progenitor cells, Sertoli cells, kidney collecting duct intercalated cells, kidney distal convoluted tubule epithelial cells, pvalb GABAergic cortical interneurons, retinal rod cells, and vip GABAergic cortical interneurons. - It is a highly conserved protein, with a similar sequence found in organisms from yeast to humans. **Pathways and functions:** - HPRT1 is involved in the following pathways and functions: - Azathioprine adme: HPRT1 is a key enzyme in the degradation of azathioprine, a chemotherapy drug that can damage DNA. - Defective hprt1 disrupts guanine and hypoxanthine salvage: HPRT1 is responsible for the salvage of guanine and hypoxanthine, which are damaged bases that can lead to mutations. This process is important for maintaining genomic integrity. - Disease: HPRT1 is involved in the pathogenesis of a number of diseases, including cancer, neurodegenerative diseases, and metabolic disorders. **Clinical significance:** - HPRT1 gene mutations are associated with a number of human diseases, including cancer, neurodegenerative diseases, and metabolic disorders. - Inhibitors of HPRT1 have been shown to be effective in treating these diseases.

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 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 32 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 31 PDBsum 22 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 UniProtKB 2 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. For the full schema, download it here.