LOCUS AAA36012.1 218 aa PRT HUM 26-NOV-2001 DEFINITION Homo sapiens HPRT protein. ACCESSION M26434-1 PROTEIN_ID AAA36012.1 SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (sites) AUTHORS Argos,P., Hanei,M., Wilson,J.M. and Kelley,W.N. TITLE A possible nucleotide-binding domain in the tertiary fold of phosphoribosyltransferases JOURNAL J. Biol. Chem. 258 (10), 6450-6457 (1983) PUBMED 6343377 REFERENCE 2 (sites) AUTHORS Wilson,J.M., Kobayashi,R., Fox,I.H. and Kelley,W.N. TITLE Human hypoxanthine-guanine phosphoribosyltransferase JOURNAL J. Biol. Chem. 258 (10), 6458-6460 (1983) PUBMED 6853490 REFERENCE 3 (sites) AUTHORS Wilson,J.M. and Kelley,W.N. TITLE Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome JOURNAL J. Clin. Invest. 71 (5), 1331-1335 (1983) PUBMED 6853716 REFERENCE 4 (sites) AUTHORS Jolly,D.J., Okayama,H., Berg,P., Esty,A.C., Filpula,D., Bohlen,P., Johnson,G.G., Shively,J.E., Hunkapillar,T. and Friedmann,T. TITLE Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase JOURNAL Proc. Natl. Acad. Sci. U.S.A. 80 (2), 477-481 (1983) PUBMED 6300847 REFERENCE 5 (sites) AUTHORS Wilson,J.M., Tarr,G.E. and Kelley,W.N. TITLE Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout JOURNAL Proc. Natl. Acad. Sci. U.S.A. 80 (3), 870-873 (1983) PUBMED 6572373 REFERENCE 6 (sites) AUTHORS Wilson,J.M. and Kelley,W.N. TITLE Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout JOURNAL J. Biol. Chem. 259 (1), 27-30 (1984) PUBMED 6706936 REFERENCE 7 (sites) AUTHORS Yang,T.P., Patel,P.I., Chinault,A.C., Stout,J.T., Jackson,L.G., Hildebrand,B.M. and Caskey,C.T. TITLE Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients JOURNAL Nature 310 (5976), 412-414 (1984) PUBMED 6087154 REFERENCE 8 (sites) AUTHORS Stout,J.T. and Caskey,C.T. TITLE HPRT: gene structure, expression, and mutation JOURNAL Annu. Rev. Genet. 19, 127-148 (1985) PUBMED 3909940 REFERENCE 9 (sites) AUTHORS Dush,M.K., Sikela,J.M., Khan,S.A., Tischfield,J.A. and Stambrook,P.J. TITLE Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement JOURNAL Proc. Natl. Acad. Sci. U.S.A. 82 (9), 2731-2735 (1985) PUBMED 3921964 REFERENCE 10 (sites) AUTHORS Hershey,H.V. and Taylor,M.W. TITLE Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes JOURNAL Gene 43 (3), 287-293 (1986) PUBMED 3527873 REFERENCE 11 (sites) AUTHORS Kim,S.H., Moores,J.C., David,D., Respess,J.G., Jolly,D.J. and Friedmann,T. TITLE The organization of the human HPRT gene JOURNAL Nucleic Acids Res. 14 (7), 3103-3118 (1986) PUBMED 3008106 REFERENCE 12 (sites) AUTHORS King,A. and Melton,D.W. TITLE Characterisation of cDNA clones for hypoxanthine-guanine phosphoribosyltransferase from the human malarial parasite, Plasmodium falciparum: comparisons to the mammalian gene and protein JOURNAL Nucleic Acids Res. 15 (24), 10469-10481 (1987) PUBMED 3320967 REFERENCE 13 (sites) AUTHORS Cariello,N.F., Scott,J.K., Kat,A.G., Thilly,W.G. and Keohavong,P. 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 JOURNAL Am. J. Hum. Genet. 42 (5), 726-734 (1988) PUBMED 3358423 REFERENCE 14 (sites) AUTHORS Davidson,B.L., Pashmforoush,M., Kelley,W.N. and Palella,T.D. TITLE Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint) JOURNAL Gene 63 (2), 331-336 (1988) PUBMED 3384338 REFERENCE 16 (sites) AUTHORS Fujimori,S., Hidaka,Y., Davidson,B.L., Palella,T.D. and Kelley,W.N. TITLE Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor) JOURNAL Hum. Genet. 79 (1), 39-43 (1988) PUBMED 2896620 REFERENCE 17 (sites) AUTHORS Davidson,B.L., Chin,S.J., Wilson,J.M., Kelley,W.N. and Palella,T.D. TITLE Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects JOURNAL J. Clin. Invest. 82 (6), 2164-2167 (1988) PUBMED 3198771 REFERENCE 18 (sites) AUTHORS Yang,T.P., Stout,J.T., Konecki,D.S., Patel,P.I., Alford,R.L. and Caskey,C.T. TITLE Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement JOURNAL Somat. Cell Mol. Genet. 14 (3), 293-303 (1988) PUBMED 2835825 REFERENCE 19 (sites) AUTHORS Davidson,B.L., Pashmforoush,M., Kelley,W.N. and Palella,T.D. TITLE Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville) JOURNAL J. Biol. Chem. 264 (1), 520-525 (1989) PUBMED 2909537 REFERENCE 20 (sites) AUTHORS Fujimori,S., Davidson,B.L., Kelley,W.N. and Palella,T.D. TITLE Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome JOURNAL J. Clin. Invest. 83 (1), 11-13 (1989) PUBMED 2910902 REFERENCE 21 (sites) AUTHORS Davidson,B.L., Tarle,S.A., Palella,T.D. and Kelley,W.N. TITLE Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts JOURNAL J. Clin. Invest. 84 (1), 342-346 (1989) PUBMED 2738157 REFERENCE 22 (sites) AUTHORS Ogasawara,N., Stout,J.T., Goto,H., Sonta,S., Matsumoto,A. and Caskey,C.T. TITLE Molecular analysis of a female Lesch-Nyhan patient JOURNAL J. Clin. Invest. 84 (3), 1024-1027 (1989) PUBMED 2760209 REFERENCE 23 (sites) AUTHORS Gibbs,R.A., Nguyen,P.N., McBride,L.J., Koepf,S.M. and Caskey,C.T. TITLE Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA JOURNAL Proc. Natl. Acad. Sci. U.S.A. 86 (6), 1919-1923 (1989) PUBMED 2928313 REFERENCE 24 (bases 1 to 56737) AUTHORS Edwards,A., Voss,H., Rice,P., Civitello,A., Stegemann,J., Schwager,C., Zimmermann,J., Erfle,H., Caskey,C.T. and Ansorge,W. TITLE Automated DNA sequencing of the human HPRT locus JOURNAL Genomics 6 (4), 593-608 (1990) PUBMED 2341149 REFERENCE 25 (sites) AUTHORS Gibbs,R.A., Nguyen,P.N., Edwards,A., Civitello,A.B. and Caskey,C.T. TITLE Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families JOURNAL Genomics 7 (2), 235-244 (1990) PUBMED 2347587 REFERENCE 26 (sites) AUTHORS Bouwens-Rombouts,A.G., van den Boogaard,M.J., Puig,J.G., Mateos,F.A., Hennekam,R.C. and Tilanus,M.G. TITLE Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene JOURNAL Hum. Genet. 91 (5), 451-454 (1993) PUBMED 8314557 REFERENCE 27 (bases 1 to 56737) AUTHORS Davidson,B.L., Palella,T.D. and Kelley,W.N. TITLE Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland) JOURNAL Gene 68 (1), 85-91 (1988) PUBMED 3265398 COMMENT We received a sequence correction from Dr. Edwards June 19, 1991. A 't' was added between bp 22227 and 22228. [1] sites; mutations causing gout. [13] sites; mutations causing gout. [17] sites; mutations causing gout. [Gene 68, 85-91 (1988)] sites; mutations causing Lesch-Nyhan syndrome. [14] sites; mutations causing Lesch-Nyhan syndrome. [19] sites; mutations causing Lesch-Nyhan syndrome and gout. [21] sites; mutations causing gout. [9] sites; mutations causing gout. [20] sites; mutations causing Lesch-Nyhan syndrome. [16] sites; mutations causing gout. [25] sites; mutations causing Lesch-Nyhan syndrome. [23] sites; mutations causing Lesch-Nyhan syndrome and gout. [10] sites; mutations causing gout. [12] sites; conserved domain. [22] sites; mutations causing Lesch-Nyhan syndrome. [8] sites; mutations causing Lesch-Nyhan syndrome. [3] sites; Lesch-Nyhan mutation. [6] sites; mutations causing Lesch-Nyhan syndrome and gout. [2] sites; mutations causing gout. [5] sites; mutations causing gout. [7] sites; mutations causing Lesch-Nyhan syndrome. [18] sites; mutant reversion. Draft entry and computer-readable sequence for [24] kindly submitted by A.Edwards, 26-JUL-1989. Mutant Description RJK 1780 missing intron 1 (partial and exon 2 [25] RJK 849 missing intron 3 (partial) and exons 4-9 (no mRNA) [7] RJK 984 missing intron 5 (partial) and exons 6-9 (no mRNA) [8] [7] GM 3467 missing intron 8 (partial) and exon 9 (no mRNA) [25] [7] RJK 853 complete gene deletion [25] [7] [22] GM 2227 inversion of exons 6-9 (no mRNA) [18] GM 1662 and GM 6804 duplication of exons 2 and 3 and elongated mRNA [7] [18] Connersville missing intron 7 (partial and exon 8 [19]. FEATURES Qualifiers source /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /map="Xq26.1" protein /gene="HPRT" /note="hypoxanthine phosphoribosyltransferase" intron_pos 10:0 (1/8) intron_pos 45:2 (2/8) intron_pos 107:0 (3/8) intron_pos 129:0 (4/8) intron_pos 135:0 (5/8) intron_pos 162:2 (6/8) intron_pos 178:1 (7/8) intron_pos 204:0 (8/8) BEGIN 1 MATRSPGVVI SDDEPGYDLD LFCIPNHYAE DLERVFIPHG LIMDRTERLA RDVMKEMGGH 61 HIVALCVLKG GYKFFADLLD YIKALNRNSD RSIPMTVDFI RLKSYCNDQS TGDIKVIGGD 121 DLSTLTGKNV LIVEDIIDTG KTMQTLLSLV RQYNPKMVKV ASLLVKRTPR SVGYKPDFVG 181 FEIPDKFVVG YALDYNEYFR DLNHVCVISE TGKAKYKA //