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-1997 (REL. 35, LAST ANNOTATION UPDATE) DE HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (EC 2.4.2.8) (HGPRT) DE (HGPRTASE). GN HPRT1 OR HPRT. OS HOMO SAPIENS (HUMAN). OC EUKARYOTA; METAZOA; CHORDATA; VERTEBRATA; TETRAPODA; MAMMALIA; OC EUTHERIA; PRIMATES. RN [1] RP SEQUENCE FROM N.A. RX 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. RX 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. RX 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 SEQUENCE OF 1-8 FROM N.A. RX MEDLINE; 87064322. RA PATEL P.I., FRAMSON P.E., CASKEY C.T., CHINAULT A.C.; RL MOL. CELL. BIOL. 6:393-403(1986). RN [5] RP X-RAY CRYSTALLOGRAPHY (2.45 ANGSTROMS). RX MEDLINE; 94320143. RA EADS J.C., SCAPIN G., XU Y., GRUBMEYER C., SACCHETTINI J.C.; RL CELL 78:325-344(1994). RN [6] RP REVIEW ON VARIANTS. RX MEDLINE; 93138599. RA SCULLEY D.G., DAWSON P.A., EMMERSON B.T., GORDON R.B.; RL HUM. GENET. 90:195-207(1992). RN [7] RP VARIANT TORONTO. RX MEDLINE; 83213351. RA WILSON J.M., KOBAYASHI R., FOX I.H., KELLEY W.N.; RL J. BIOL. CHEM. 258:6458-6460(1983). RN [8] RP VARIANT KINSTON. RX MEDLINE; 83213940. RA WILSON J.M., KELLEY W.N.; RL J. CLIN. INVEST. 71:1331-1335(1983). RN [9] RP VARIANT LONDON. RX 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 [10] RP VARIANT MUNICH. RX MEDLINE; 84161915. RA WILSON J.M., KELLEY W.N.; RL J. BIOL. CHEM. 259:27-30(1984). RN [11] RP VARIANT MUNICH. RX 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 [12] RP VARIANT FLINT. RX MEDLINE; 88255878. RA DAVIDSON B.L., PASHMFOROUSH M., KELLY W.N., PALELLA T.D.; RL GENE 63:331-336(1988). RN [13] RP VARIANT MIDLAND. RX MEDLINE; 89121497. RA DAVIDSON B.L., PALELLA T.D., KELLY W.N.; RL GENE 68:85-91(1988). RN [14] RP VARIANT ANN ARBOR. RX MEDLINE; 88212418. RA FUJIMORI S., HIDAKA Y., DAVIDSON B.L., PALELLA T.D., KELLEY W.N.; RL HUM. GENET. 79:39-43(1988). RN [15] RP VARIANT LONDON. RX 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 [16] RP VARIANTS DIRRANBANDI AND YERONGA. RX MEDLINE; 89158110. RA KEOUGH D.T., GORDON R.B., DEJERSEY J., EMMERSON B.T.; RL J. INHERIT. METAB. DIS. 11:229-238(1988). RN [17] RP VARIANTS JAPAN-1 AND JAPAN-2. RX MEDLINE; 90022526. RA IGARASHI T., MINAMI M., NISHIDA Y.; RL ACTA PAEDIATR. JPN. OVERSEAS ED. 31:303-313(1989). RN [18] RP VARIANT ASHVILLE. RX MEDLINE; 89079703. RA DAVIDSON B.L., PASHMFOROUSH M., KELLY W.N., PALELLA T.D.; RL J. BIOL. CHEM. 264:520-525(1989). RN [19] RP VARIANT YALE. RX MEDLINE; 89093407. RA FUJIMORI S., DAVIDSON B.L., KELLEY W.N., PALELLA T.D.; RL J. CLIN. INVEST. 83:11-13(1989). RN [20] RP VARIANTS ARLINGEN; DETROIT; NEW BRITON AND NEW HAVEN. RX MEDLINE; 89292180. RA DAVIDSON B.L., TARLE S.A., PALELLA T.D., KELLEY W.N.; RL J. CLIN. INVEST. 84:342-346(1989). RN [21] RP VARIANTS RKJ. RX 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 [22] RP VARIANTS RKJ. RX MEDLINE; 90269813. RA GIBBS R.A., NGUYEN P.N., EDWARDS A., CIVITELLO A.B., CASKEY C.T.; RL GENOMICS 7:235-244(1990). RN [23] RP VARIANT MONTREAL. RX MEDLINE; 90292681. RA SKOPEK T.R., RECIO L., SIMPSON D., DALLAIRE L., MELANCON S.B., RA OGIER H., O'NEILL J.P., FALTA M.T., NICKLAS J.A., ALBERTINI R.J.; RL HUM. GENET. 85:111-116(1990). RN [24] RP VARIANT BRISBANE. RX MEDLINE; 91061423. RA GORDON R.B., SCULLEY D.G., DAWSON P.A., BEACHAM I.R., EMMERSON B.T.; RL J. INHERIT. METAB. DIS. 13:692-700(1990). RN [25] RP VARIANTS GRAV.; MASHAD; HEAPEY; BANB.; RUNCORN; FARN.; MARLOW & READ. RX MEDLINE; 91206408. RA DAVIDSON B.L., TARLE S.A., VAN ANTWERP M., GIBBS D.A., WATTS R.W.E., RA KELLEY W.N., PALELLA T.D.; RL AM. J. HUM. GENET. 48:951-958(1991). RN [26] RP VARIANTS 779; 1265; 1510 AND 1522. RX MEDLINE; 91301712. RA TARLE S.A., DAVIDSON B.L., WU V.C., ZIDAR F.J., SEEGMILLER J.E., RA KELLEY W.N., PALELLA T.D.; RL GENOMICS 10:499-501(1991). RN [27] RP VARIANTS PERTH; SWAN; TOOWONG AND URANGAN. RX MEDLINE; 92039631. RA SCULLEY D.G., DAWSON P.A., BEACHAM I.R., EMMERSON B.T., GORDON R.B.; RL HUM. GENET. 87:688-692(1991). RN [28] RP VARIANT ALA-187, AND SEQUENCE OF 182-192 FROM N.A. RX MEDLINE; 92142870. RA YAMADA Y., GOTO H., OGASAWARA N.; RL ADV. EXP. MED. BIOL. 309B:121-124(1991). RN [29] RP VARIANT EDINBURGH, AND SEQUENCE FROM N.A. RX MEDLINE; 92201839. RA LIGHTFOOT T., JOSHI R., NUKI G., SNYDER F.F.; RL HUM. GENET. 88:695-696(1992). RN [30] RP VARIANTS, AND SEQUENCE OF 34-49 FROM N.A. RX MEDLINE; 93250785. RA SEGE-PATERSON K., CHAMBERS J., PAGE T., JONES O.W., NYHAN W.L.; RL HUM. MOL. GENET. 1:427-432(1992). RN [31] RP VARIANT MOOSE JAW, AND SEQUENCE FROM N.A. RA LIGHTFOOT T., SNYDER F.F.; RL SUBMITTED (MAR-1994) TO EMBL/GENBANK/DDBJ DATA BANKS. RN [32] RP VARIANT ISAR. RX MEDLINE; 95353288. RA BURGEMEISTER R., ROETZER E., GUTENSOHN W., GEHRKE M., SCHIEL W.; RL HUM. MUTAT. 5:341-344(1995). RN [33] RP VARIANT ARG-60. RX MEDLINE; 97157103. RA FUJIMORI S., SAKUMA R., YAMAOKA N., HAKODA M., YAMANAKA H., RA KAMATANI N.; RL HUM. GENET. 99:8-10(1997). 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 -!- SUBUNIT: HOMOTETRAMER. CC -!- SUBCELLULAR LOCATION: CYTOPLASMIC. CC -!- DISEASE: HPRT IS DEFICIENT IN TWO GENETIC DISEASES. IN LESCH-NYHAN CC SYNDROME, IN WHICH THERE IS NO ENZYMATIC ACTIVITY AND WHICH IS CC CHARACTERIZED BY HYPERURICEMIA, CHOREOATHETOSIS, MENTAL CC RETARDATION, AND COMPULSIVE SELF-MUTILATION. IN GOUT IN WHICH CC THERE IS PARTIAL ENZYME ACTIVITY AND WHICH IS CHARACTERIZED BY CC HYPERURICEMIA. CC -!- SIMILARITY: PARTIAL WITH OTHER PHOSPHORIBOSYLTRANSFERASE ALSO CC INVOLVED IN BIOSYNTHESIS OR SALVAGE OF PURINES OR PYRIMIDINES. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; M26434; G184370; -. DR EMBL; V00530; G32450; -. DR EMBL; M31642; G306885; -. DR EMBL; M12452; G184352; -. DR EMBL; S79313; G244378; -. DR EMBL; L29383; G459815; -. DR EMBL; L29382; G459817; -. DR EMBL; S60300; E81024; -. DR PIR; A00579; RTHUG. DR PIR; A32728; A32728. DR PDB; 1HMP; 03-JUN-95. DR MIM; 308000; -. DR PROSITE; PS00103; PUR_PYR_PR_TRANSFER; 1. KW TRANSFERASE; GLYCOSYLTRANSFERASE; PURINE SALVAGE; GOUT; ACETYLATION; KW MAGNESIUM; DISEASE MUTATION; 3D-STRUCTURE. FT INIT_MET 0 0 FT MOD_RES 1 1 ACETYLATION. FT METAL 133 133 MAGNESIUM. FT METAL 134 134 MAGNESIUM. FT VARIANT 6 6 G -> D (IN GOUT; GRAVESEND). FT VARIANT 7 7 V -> G (IN LESCH-NYHAN; HB). FT VARIANT 15 15 G -> D (IN LESCH-NYHAN; FG). FT VARIANT 15 15 G -> S (IN GOUT; URANGAN). FT VARIANT 19 19 D -> V (IN GOUT; MASHAD). FT VARIANT 22 22 C -> W (IN GOUT JS). FT VARIANT 40 40 L -> P (IN LESCH-NYHAN; DETROIT). FT VARIANT 41 41 I -> F (IN LESCH-NYHAN; ISAR). FT VARIANT 41 41 I -> T (IN LESCH-NYHAN; HEAPEY). FT VARIANT 42 43 MD -> RN (IN LESCH-NYHAN; SALAMANCA). FT VARIANT 44 44 R -> K (IN LESCH-NYHAN; RJK 2163). FT VARIANT 47 47 R -> H (IN GOUT; AD AND DD). FT VARIANT 49 49 A -> K (IN LESCH-NYHAN; 1265). FT VARIANT 49 49 A -> P (IN LESCH-NYHAN; LW). FT VARIANT 50 50 R -> G (IN GOUT; TORONTO). FT VARIANT 50 50 R -> P (IN LESCH-NYHAN; BANBURY). FT VARIANT 51 51 D -> G (IN EDINBURGH). FT VARIANT 52 52 V -> A (IN GOUT; MG). FT VARIANT 52 52 V -> M (IN GOUT; TE). FT VARIANT 53 53 M -> L (IN LESCH-NYHAN; JAPAN-1). FT VARIANT 56 56 M -> T (IN LESCH-NYHAN; MONTREAL). FT VARIANT 57 57 G -> R (IN GOUT; TOOWONG). FT VARIANT 60 60 H -> R (ENZYME ACTIVITY 37% OF NORMAL; FT ASYMPTOMATIC). FT VARIANT 69 69 G -> E (IN LESCH-NYHAN; NEW HAVEN/1510). FT VARIANT 70 70 G -> R (IN LESCH-NYHAN; YALE). FT VARIANT 73 73 F -> L (IN LESCH-NYHAN; FLINT/RJK 892/ FT DW/PERTH/1522). FT VARIANT 77 77 L -> V (IN GOUT; SWAN). FT VARIANT 79 79 D -> V (IN GOUT; ARLINGTON). FT VARIANT 103 103 S -> R (IN GOUT; MUNICH). FT VARIANT 109 109 S -> L (IN GOUT; LONDON). FT VARIANT 129 129 V -> D (IN LESCH-NYHAN; MIDLAND/RJK 896). FT VARIANT 130 130 L -> S (IN LESCH-NYHAN; RJK 1784). FT VARIANT 131 131 I -> M (IN GOUT; ANN-ARBOR). FT VARIANT 131 131 I -> T (IN LESCH-NYHAN; RUNCORN). FT VARIANT 134 134 D -> G (IN GOUT; YERONGA). FT VARIANT 142 142 M -> K (IN LESCH-NYHAN; RJK 1210). FT VARIANT 142 142 M -> MA (IN LESCH-NYHAN; RW). FT VARIANT 160 160 A -> S (IN GOUT; MILWAUKEE/RJK 949). FT VARIANT 161 161 S -> R (IN LESCH-NYHAN; FARNHAM). FT VARIANT 167 167 T -> I (IN GOUT; BRISBANE). FT VARIANT 175 175 P -> L (IN LESCH-NYHAN; MARLOW). FT VARIANT 176 176 D -> Y (IN LESCH-NYHAN; RJK 2185). FT VARIANT 178 178 MISSING (IN LESCH-NYHAN; MICHIGAN). FT VARIANT 178 179 VG -> GR (IN GOUT; JAPAN-2). FT VARIANT 187 187 V -> A (IN JAPAN). FT VARIANT 182 182 I -> T (IN GOUT; JF). FT VARIANT 193 193 D -> E (IN GOUT; MOOSE-JAW; RESULTS IN FT COOPERATIVITY AND DECREASED SUBSTRATE FT AFFINITIES). FT VARIANT 193 193 D -> N (IN LESCH-NYHAN; KINSTON/RJK FT 2188). FT VARIANT 194 194 Y -> C (IN GOUT; DIRRANBANDI). FT VARIANT 198 198 F -> V (IN LESCH-NYHAN; NEW BRITON/RJK FT 950). FT VARIANT 200 200 D -> G (IN GOUT; ASHVILLE). FT VARIANT 200 200 D -> N (IN GOUT; RB). FT VARIANT 200 200 D -> Y (IN LESCH-NYHAN; GM). FT VARIANT 203 203 H -> D (IN LESCH-NYHAN; RJK 1874). FT VARIANT 203 203 H -> R (IN LESCH-NYHAN; 779). FT VARIANT 205 205 C -> Y (IN LESCH-NYHAN; READING/RJK FT 1727). SQ SEQUENCE 217 AA; 24448 MW; E232EDB3 CRC32; ATRSPGVVIS DDEPGYDLDL FCIPNHYAED LERVFIPHGL IMDRTERLAR DVMKEMGGHH IVALCVLKGG YKFFADLLDY IKALNRNSDR SIPMTVDFIR LKSYCNDQST GDIKVIGGDD LSTLTGKNVL IVEDIIDTGK TMQTLLSLVR QYNPKMVKVA SLLVKRTPRS VGYKPDFVGF EIPDKFVVGY ALDYNEYFRD LNHVCVISET GKAKYKA //