ID   HPRT$HUMAN     STANDARD;      PRT;   217 AA.
AC   P00492;
DT   21-JUL-1986 (REL. 01, CREATED)
DT   21-JUL-1986 (REL. 01, LAST SEQUENCE UPDATE)
DT   01-NOV-1990 (REL. 16, LAST ANNOTATION UPDATE)
DE   HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (EC 2.4.2.8) (HGPRTASE)
DE   (GENE NAME: HPRT).
OS   HOMO SAPIENS (HUMAN).
OC   EUKARYOTA; METAZOA; CHORDATA; VERTEBRATA; TETRAPODA; MAMMALIA;
OC   EUTHERIA; PRIMATES.
RN   [1]
RP   SEQUENCE FROM N.A.
RC   MEDLINE=90256168;
RA   EDWARDS A., VOSS H., RICE P., CIVITELLO A., STEGEMANN J.,
RA   SCHWAGER C., ZIMMERMANN J., ERFLE H., CASKEY C.T., ANSORGE W.;
RL   GENOMICS 6:593-608(1990).
RN   [2]
RP   SEQUENCE FROM N.A.
RC   MEDLINE=83169681;
RA   JOLLY D.J., OKAYAMA H., BERG P., ESTY A.C., FILPULA D., BOHLEN P.,
RA   JOHNSON G.G., SHIVELY J.E., HUNKAPILLAR T., FRIEDMANN T.;
RL   PROC. NATL. ACAD. SCI. U.S.A. 80:477-481(1983).
RN   [3]
RP   SEQUENCE.
RC   MEDLINE=82265815;
RA   WILSON J.M., TARR G.E., MAHONEY W.C., KELLEY W.N.;
RL   J. BIOL. CHEM. 257:10978-10985(1982).
RN   [4]
RP   VARIANT.
RC   MEDLINE=83144031;
RA   WILSON J.M., TARR G.E., KELLEY W.N.;
RL   PROC. NATL. ACAD. SCI. U.S.A. 80:870-873(1983).
RN   [5]
RP   VARIANT TORONTO.
RC   MEDLINE=83213351;
RA   WILSON J.M., KOBAYASHI R., FOX I.H., KELLEY W.N.;
RL   J. BIOL. CHEM. 258:6458-6460(1983).
RN   [6]
RP   VARIANT MUNICH.
RC   MEDLINE=84161915;
RA   WILSON J.M., KELLEY W.N.;
RL   J. BIOL. CHEM. 259:27-30(1984).
RN   [7]
RP   VARIANT MUNICH.
RC   MEDLINE=88191890;
RA   CARIELLO N.F., SCOTT J.K., KAT A.G., THILLY W.G., KEOHAVONG P.;
RL   AM. J. HUM. GENET. 42:726-734(1988).
RN   [8]
RP   VARIANT FLINT.
RC   MEDLINE=88255878;
RA   DAVIDSON B.L., PASHMFOROUSH M., KELLY W.N., PALELLA T.D.;
RL   GENE 63:331-336(1988).
RN   [9]
RP   VARIANT MIDLAND.
RC   MEDLINE=89121497;
RA   DAVIDSON B.L., PALELLA T.D., KELLY W.N.;
RL   GENE 68:85-91(1988).
RN   [10]
RP   VARIANT ANN ARBOR.
RC   MEDLINE=88212418;
RA   FUJIMORI S., HIDAKA Y., DAVIDSON B.L., PALELLA T.D., KELLEY W.N.;
RL   HUM. GENET. 79:39-43(1988).
RN   [11]
RP   VARIANT LONDON.
RC   MEDLINE=89067158;
RA   DAVIDSON B.L., CHIN S.J., WILSON J.M., KELLEY W.N., PALELLA T.D.;
RL   J. CLIN. INVEST. 82:2164-2167(1988).
RN   [12]
RP   VARIANT ASHVILLE.
RC   MEDLINE=89079703;
RA   DAVIDSON B.L., PASHMFOROUSH M., KELLY W.N., PALELLA T.D.;
RL   J. BIOL. CHEM. 264:520-525(1989).
RN   [13]
RP   VARIANT YALE.
RC   MEDLINE=89093407;
RA   FUJIMORI S., DAVIDSON B.L., KELLEY W.N., PALELLA T.D.;
RL   J. CLIN. INVEST. 83:11-13(1989).
RN   [14]
RP   VARIANTS ARLINGEN, DETROIT, NEW BRITON, AND NEW HAVEN.
RC   MEDLINE=89292180;
RA   DAVIDSON B.L., TARLE S.A., PALELLA T.D., KELLEY W.N.;
RL   J. CLIN. INVEST. 84:342-346(1989).
RN   [15]
RP   VARIOUS VARIANTS.
RC   MEDLINE=89184538;
RA   GIBBS R.A., NGUYEN P.N., MCBRIDE L.J., KOEPF S.M., CASKEY C.T.;
RL   PROC. NATL. ACAD. SCI. U.S.A. 86:1919-1923(1989).
RN   [16]
RP   VARIOUS VARIANTS.
RC   MEDLINE=90269813;
RA   GIBBS R.A., NGUYEN P.N., EDWARDS A., CIVITELLO A.B., CASKEY C.T.;
RL   GENOMICS 7:235-244(1990).
CC   -!- CATALYTIC ACTIVITY: IMP + PYROPHOSPHATE = HYPOXANTHINE +
CC       5-PHOSPHO-ALPHA-D-RIBOSE 1-DIPHOSPHATE (GUANINE CAN REPLACE
CC       HYPOXANTHINE TO PRODUCE GMP).
CC   -!- PATHWAY: PURINE SALVAGE.
CC   -!- SUBCELLULAR LOCATION: CYTOPLASMIC.
CC   -!- DISEASE: THIS ENZYME IS DEFICIENT IN TWO GENETIC DISEASES: THE
CC       LESCH-NYHAN SYNDROME, IN WHICH THERE IS NO ENZYME ACTIVITY; AND
CC       HYPERURICEMIA WITH AN EARLY ONSET OF GOUT, IN WHICH THERE IS
CC       PARTIAL ENZYME ACTIVITY.
CC   -!- THE VARIANT "MUNICH" SUBSTITUTION IS IN THE PUTATIVE HYPOXANTHINE
CC       -BINDING SITE AND RESULTS IN ABNORMAL ENZYME FUNCTION.
CC   -!- SIMILARITY: PARTIAL WITH OTHER PHOSPHORIBOSYLTRANSFERASE ALSO
CC       INVOLVED IN BIOSYNTHESIS OR SALVAGE OF PURINES OR PYRIMIDINES.
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DR   EMBL; M26434; HSHPRTB.
DR   EMBL; V00530; HSHPRT.
DR   EMBL; M31642; HSHPRTA1A.
DR   PIR; A00579; RTHUG.
DR   PIR; A32728; A32728.
DR   MIM; 308000; NINTH EDITION.
DR   PROSITE; PS00103; PUR_PYR_PR_TRANSFER.
KW   TRANSFERASE; GLYCOSYLTRANSFERASE; PURINE SALVAGE; GOUT;
KW   LESCH-NYHAN SYNDROME; ACETYLATION.
FT   INIT_MET      0      0
FT   MOD_RES       1      1       ACETYLATION.
FT   VARIANT      40     40       L -> P (LESCH-NYHAN DETROIT).
FT   VARIANT      44     44       R -> K (LESCH-NYHAN RJK 2163).
FT   VARIANT      50     50       R -> G (GOUT TORONTO).
FT   VARIANT      69     69       G -> E (LESCH-NYHAN NEW HAVEN).
FT   VARIANT      70     70       G -> R (LESCH-NYHAN YALE).
FT   VARIANT      73     73       F -> L (LESCH-NYHAN FLINT/RJK 892).
FT   VARIANT      79     79       D -> V (GOUT ARLINGTON).
FT   VARIANT     103    103       S -> R (GOUT MUNICH).
FT   VARIANT     109    109       S -> L (GOUT LONDON).
FT   VARIANT     129    129       V -> D (LESCH-NYHAN MIDLAND/RJK 896).
FT   VARIANT     130    130       L -> S (LESCH-NYHAN RJK 1784).
FT   VARIANT     131    131       I -> M (GOUT ANN-ARBOR).
FT   VARIANT     160    160       A -> S (GOUT MILWAUKEE/RJK 949).
FT   VARIANT     176    176       D -> Y (LESCH-NYHAN RJK 2185).
FT   VARIANT     193    193       D -> N (LESCH-NYHAN KINGSTON/RJK 2188).
FT   VARIANT     198    198       F -> V (LESCH-NYHAN NEW BRITON/RJK 950).
FT   VARIANT     200    200       D -> G (GOUT ASHVILLE).
FT   VARIANT     203    203       H -> D (LESCH-NYHAN RJK 1874).
FT   VARIANT     205    205       C -> Y (LESCH-NYHAN RJK 1727).
SQ   SEQUENCE   217 AA;  24448 MW;  259285 CN;
     ATRSPGVVIS DDEPGYDLDL FCIPNHYAED LERVFIPHGL IMDRTERLAR DVMKEMGGHH
     IVALCVLKGG YKFFADLLDY IKALNRNSDR SIPMTVDFIR LKSYCNDQST GDIKVIGGDD
     LSTLTGKNVL IVEDIIDTGK TMQTLLSLVR QYNPKMVKVA SLLVKRTPRS VGYKPDFVGF
     EIPDKFVVGY ALDYNEYFRD LNHVCVISET GKAKYKA
//