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Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26272 Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu26272C Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_000194.2, 164518913
Length 657 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.
Product hypoxanthine-guanine phosphoribosyltransferase
Comment

Summary: 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].

RefSeq NP_000185.1
CDS 168..824
Misc Feature(1)171..173
Misc Feature(2)171..173
Misc Feature(3)306..713
Misc Feature(4)order(369..371,375..377,567..575,579..593,663..665)
Exon (1)1..194
Gene:HPRT1
Gene Synonym:HGPRT; HPRT
Exon (2)195..301
Gene:HPRT1
Gene Synonym:HGPRT; HPRT
Exon (3)302..485
Gene:HPRT1
Gene Synonym:HGPRT; HPRT
Exon (4)486..551
Gene:HPRT1
Gene Synonym:HGPRT; HPRT
Exon (5)552..569
Gene:HPRT1
Gene Synonym:HGPRT; HPRT
Exon (6)570..652
Gene:HPRT1
Gene Synonym:HGPRT; HPRT
Exon (7)653..699
Gene:HPRT1
Gene Synonym:HGPRT; HPRT
Exon (8)700..776
Gene:HPRT1
Gene Synonym:HGPRT; HPRT
Exon (9)777..1415
Gene:HPRT1
Gene Synonym:HGPRT; HPRT
Translation MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGH HIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGD DLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVG FEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA
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Position Chain Variation Link
12+dbSNP:
12+c, gdbSNP:193054558
213+dbSNP:
213+a, gdbSNP:137852499
221+a, cdbSNP:374646638
289+c, tdbSNP:137852480
301+a, gdbSNP:137852491
308+a, gdbSNP:368429361
310+a, gdbSNP:387906725
318+c, g, tdbSNP:137852494
319+a, gdbSNP:371800609
322+a, gdbSNP:137852502
337+c, tdbSNP:137852495
339+a, gdbSNP:137852500
350+c, tdbSNP:145358570
353+c, tdbSNP:375425889
360+c, tdbSNP:137852506
376+a, gdbSNP:137852487
378+c, gdbSNP:137852488
389+a, cdbSNP:137852481
399+c, gdbSNP:137852501
406+a, tdbSNP:137852478
479+a, cdbSNP:137852485
492+dbSNP:
492+a, c, tdbSNP:137852489
496+c, tdbSNP:137852482
535+c, tdbSNP:369065223
556+dbSNP:
556+a, tdbSNP:137852483
563+g, tdbSNP:137852477
586+dbSNP:
586+a, gdbSNP:137852503
595+a, tdbSNP:137852496
626+g, tdbSNP:137852505
647+c, tdbSNP:148780933
648+g, tdbSNP:137852484
663+dbSNP:
663+a, gdbSNP:398123242
670+c, tdbSNP:137852498
675+a, c, tdbSNP:137852497
694+c, tdbSNP:137852493
696+g, tdbSNP:137852492
747+dbSNP:
747+a, gdbSNP:267606863
749+c, gdbSNP:137852504
762+g, tdbSNP:137852486
769+a, gdbSNP:137852479
777+dbSNP:
777+c, gdbSNP:137852490
810..830+, aaatacaaagcctaagatgagdbSNP:387906428
822+a, tdbSNP:398123243
1025+a, gdbSNP:185836119
1043+c, gdbSNP:189158218
1115..1116+, atdbSNP:17879494
1123+a, gdbSNP:71653611
1164+a, gdbSNP:41299094
1334+c, tdbSNP:370744074
1362..1363+, adbSNP:35095771
Gene SymbolHPRT1
Gene SynonymHGPRT; HPRT
ChromosomeX
Locus MapXq26.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000194 Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA. In-stock $99.00 5-7
Title Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase .
Author Ceballos-Picot I, Auge F, Fu R, Olivier-Bandini A, Cahu J, Chabrol B, Aral B, de Martinville B, Lecain JP and Jinnah HA.
Journal Mol. Genet. Metab. 110 (3), 268-274 (2013)
Title Role of human hypoxanthine guanine phosphoribosyltransferase in activation of the antiviral agent T-705 (favipiravir) .
Author Naesens L, Guddat LW, Keough DT, van Kuilenburg AB, Meijer J, Vande Voorde J and Balzarini J.
Journal Mol. Pharmacol. 84 (4), 615-629 (2013)
Title ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1 .
Author Vasiliou V, Sandoval M, Backos DS, Jackson BC, Chen Y, Reigan P, Lanaspa MA, Johnson RJ, Koppaka V and Thompson DC.
Journal Chem. Biol. Interact. 202 (1-3), 22-31 (2013)
Title Identification of novel mutations in the human HPRT gene .
Author Nguyen KV and Nyhan WL.
Journal Nucleosides Nucleotides Nucleic Acids 32 (3), 155-160 (2013)
Title Dystonia Overview .
Author Klein,C., Marras,C. and Munchau,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Lesch-Nyhan Syndrome .
Author Nyhan,W.L., O'Neill,J.P., Jinnah,H.A. and Harris,J.C.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency .
Author Sculley DG, Dawson PA, Emmerson BT and Gordon RB.
Journal Hum. Genet. 90 (3), 195-207 (1992)
Title Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency .
Author Sege-Peterson K, Chambers J, Page T, Jones OW and Nyhan WL.
Journal Hum. Mol. Genet. 1 (6), 427-432 (1992)
Title The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction .
Author Lightfoot T, Joshi R, Nuki G and Snyder FF.
Journal Hum. Genet. 88 (6), 695-696 (1992)
Title Identification of two independent Japanese mutant HPRT genes using the PCR technique .
Author Yamada Y, Goto H and Ogasawara N.
Journal Adv. Exp. Med. Biol. 309B, 121-124 (1991)

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