Gene: [21q221/GART] trifunctional protein GARS-AIRS-GART; phosphoribosylglycinamide formyltransferase (EC:2.1.2.2); phosphoribosylaminoimidazole synthetase (EC:6.3.3.1); phosphoribosylglycinamide synthetase (EC:6.3.4.13);
COM | As before GDB indicates EC:6.3.1.3, which was replaced by EC:6.3.4.13 as early as in 1972." |
FAG | [1] The schemes for purine biosynthesis presented by different
sources vary in the number of stages, according to which stage is
considered as the first one, alpha-D-ribose 5-phosphorylation catalyzed by
ribokinase or 5-phospho-alpha-D-ribose pyrophosphorylation catalyzed by
pyrophosphotransferase. The HUGEN catalogue considers the purine
biosynthesis per se to begin with ribosylpyrophosphate conversion into
5-phospho-beta-D-rybosylamine by phosphorybosyl amidotransferase. (Isoforms
of pyrophosphotransferase are encoded by two chr X genes: GEM:0Xp22/PRPS2 and GEM:0Xq2/PRPS1.) [2] The first five stages (of 12 in total) of purine biosynthesis are catalyzed by the following enzymes: (1) phosphoribosyl pyrophosphate amidotransferase (GEM:04q12/PPAT); (2) phosphoribosylglycinamide synthetase; (3) phosphoribosylglycinamide formyltransferase; (4) phosphorybosylformylglycinamidine synthetase (GEM:14q/PFGS); (5) phosphoribosylaminoimidazole synthetase. Each enzyme indicated has several synonymous names and designations, that often cause a confusion." |
FUN | EC:2.1.2.2: [1] Phosphoribosylglycinamide formyltransferase is the 3rd enzyme in purine biosynthesis de novo. [2] Systematic name: 10-formyltetrahydrofolate:5'-phosphoribosylgly- cinamide formyltransferase. The catalyzed reaction: 10-formyltetrahydrofolate + 5'-phosphoribosylglycinamide = tetrahydrofolate + 5'-phosphoribosyl-N-formylglycinamide. [3] The third step of purine biosynthesis is carried out with methenyltetrahydrofolate as a cofactor. Its biosynthesis is catalyzed by a multienzyme complex encoded by a gene in chr 14q (GEM:14q24/MTHFD). EC:6.3.3.1: [1] Phosphoribosylaminoimidazole synthetase is the 5th enzyme in purine biosynthesis de novo. [2] Systematic name: The catalyzed reaction: ATP + 5'-phosphoribosylformylglycinamidine = = ADP + orthophosphate + 5'-phosphoribosyl-5-aminoimidazole. EC:6.3.4.13: [1] Phosphoribosylglycinamide synthetase is the 2nd enzyme in purine biosynthesis de novo. [2] Systematic name: 5-phosphoribosylamine:glycine ligase (ADP-forming). The catalyzed reaction: ATP + 5-phosphoribosylamine + glycine = ADP + orthophosphate + 5'-phosphoribosylglycinamide." |
REF | SEQ "Aimi J &: NAR,
18, 6665-6672, 1990 LOC,CYG,LIN "Bartley JA, Epstein: BBRC, 93, 1286-1289, 1980 GEN,SEQ,EXP "Brodsky G &: Hum Mol Genet, 6, 2043-2050, 1997 LOC,CYG,LIN "Chadefeaux &: Hum Genet, 66, 190-192, 1984 LOC,CYG,LIN "Cox &: CCG, 37, (HGM7), 441-442, 1984 CLO,EXP "Gnirke A &: EMBO J, 10, 1629-1634, 1991 LOC,CYG,LIN "Graw S &: Somat Cell Mol Genet, 14, 233-242, 1988 LOC,CYG "Hards RG &: AJHG, 39, 179-185, 1986 FUN,EVO "Henikoff &: PNAS, 83, N3, 720-724, 1986 HIS,MEB,LIN "Jones C &: Somat Cell Genet, 7, N4, 399-409, 1981 LOC,MAM,EAG "McAvin &: Biochem Genet, 26, N1-2, 9-18, 1988 LOC,CYG,LIN "Moore EE &: AJHG, 29, 389-396, 1977 LOC,CYG "Patterson D &: PNAS, 78, 405-409, 1981 LOC,CYG "Patterson D &: AJHG, 22, 159A, 1980 COD,SEQ,LOC,FAG,EXP "Schild D &: PNAS, 87, 2916-2920, 1990 |
SWI | SWISSPROT: P22102 |
KEY | nucm |
CLA | coding, basic |
LOC | 21 q22.1 |
MIM | MIM: 138440 |
EZN | ENZYME: 2.1.2.2 |
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