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Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000194 Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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RefSeq Version NM_000194.2, 164518913
Length 1435 bp
Structure linear
Update Date 17-APR-2013
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
267+a, gdbSNP:149997584
289+c, tdbSNP:137852480
301+a, gdbSNP:137852491
318+c, g, tdbSNP:137852494
322+a, gdbSNP:137852502
337+c, tdbSNP:137852495
339+a, gdbSNP:137852500
350+c, tdbSNP:145358570
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+c, tdbSNP:137852489
496+c, tdbSNP:137852482
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
670+dbSNP:
670+c, tdbSNP:137852498
675+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
1025+a, gdbSNP:185836119
1043+c, gdbSNP:189158218
1113..1114+, atdbSNP:17879494
1123+a, gdbSNP:71653611
1164+a, gdbSNP:41299094
1360..1361+, 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 $308.00 $259.00 10
Title Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration .
Author Martins-de-Souza,D., Guest,P.C., Mann,D.M., Roeber,S., Rahmoune,H., Bauder,C., Kretzschmar,H., Volk,B., Baborie,A. and Bahn,S.
Journal J. Proteome Res. 11 (4), 2533-2543 (2012)
Title Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase .
Author Mastrangelo,L., Kim,J.E., Miyanohara,A., Kang,T.H. and Friedmann,T.
Journal Proc. Natl. Acad. Sci. U.S.A. 109 (9), 3377-3382 (2012)
Title MicroRNA-30b-mediated regulation of catalase expression in human ARPE-19 cells .
Author Haque,R., Chun,E., Howell,J.C., Sengupta,T., Chen,D. and Kim,H.
Journal PLoS ONE 7 (8), E42542 (2012)
Title Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations .
Author Yamada,Y., Yamada,K., Nomura,N., Yamano,A., Kimura,R., Naiki,M., Fukushi,D., Wakamatsu,N., Taniguchi,A., Yamaoka,N., Kaneko,K. and Fujimori,S.
Journal Nucleosides Nucleotides Nucleic Acids 30 (12), 1272-1275 (2011)
Title HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation .
Author Corrigan,A., Arenas,M., Escuredo,E., Fairbanks,L. and Marinaki,A.
Journal Nucleosides Nucleotides Nucleic Acids 30 (12), 1260-1265 (2011)
Title A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency .
Author Sculley,D.G., Dawson,P.A., Emmerson,B.T. and Gordon,R.B.
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,O.W. and Nyhan,W.L.
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,F.F.
Journal Hum. Genet. 88 (6), 695-696 (1992)
Title Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification .
Author Sculley,D.G., Dawson,P.A., Beacham,I.R., Emmerson,B.T. and Gordon,R.B.
Journal Hum. Genet. 87 (6), 688-692 (1991)
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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