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Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_000194 Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA. Full Lenth $416.15
ORF Sequence $190.53


RefSeq Version NM_000194.2, 164518913
Length 1435 bp
Structure linear
Update Date 12-MAR-2011
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.

RefSeq NP_000185.1
CDS 168..824
Exon (1)1..194
Exon (2)1..194
Exon (3)195..301
Exon (4)302..485
Exon (5)486..551
Exon (6)552..569
Exon (7)570..652
Exon (8)653..699
Exon (9)700..776
Exon (10)777..1415
Translation MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGH HIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGD DLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVG FEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA
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Position Chain Variation Link
1115..1116+, atdbSNP:17879494
1123+a, gdbSNP:71653611
1164+a, gdbSNP:41299094
1362..1363+, adbSNP:35095771
Gene SymbolHPRT1
Gene SynonymHGPRT; HPRT
ChromosomeX
Locus MapXq26.1
All Transcripts NM_000194
Title Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants .
Author Sampat,R., Fu,R., Larovere,L.E., Torres,R.J., Ceballos-Picot,I., Fischbach,M., de Kremer,R., Schretlen,D.J., Puig,J.G. and Jinnah,H.A.
Journal Hum. Genet. 129 (1), 71-78 (2011)
Title Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region .
Author Garcia,M.G., Torres,R.J. and Puig,J.G.
Journal Nucleosides Nucleotides Nucleic Acids 29 (4-6), 301-305 (2010)
Title Partial HPRT deficiency phenotype and incomplete splicing mutation .
Author Torres,R.J., Garcia,M.G. and Puig,J.G.
Journal Nucleosides Nucleotides Nucleic Acids 29 (4-6), 295-300 (2010)
Title Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism .
Author Yamada,Y., Yamada,K., Nomura,N., Yamano,A., Kimura,R., Tomida,S., Naiki,M. and Wakamatsu,N.
Journal Nucleosides Nucleotides Nucleic Acids 29 (4-6), 291-294 (2010)
Title Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals .
Author Kudo,M., Saito,Y., Sasaki,T., Akasaki,H., Yamaguchi,Y., Uehara,M., Fujikawa,K., Ishikawa,M., Hirasawa,N. and Hiratsuka,M.
Journal Drug Metab. Pharmacokinet. 24 (6), 557-564 (2009)
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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