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
//