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MT000047

Record overview

MITO IDMT000047
Gene ID471
SpeciesHomo sapiens (Human)
Gene Name5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Gene SymbolATIC
SynonymsPURH; AICAR; AICARFT; IMPCHASE; HEL-S-70p;
Alternate namesbifunctional purine biosynthesis protein PURH; AICARFT/IMPCHASE; epididymis secretory sperm binding protein Li 70p; AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme; phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase; 5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase;
Chromosome2
Map Location2q35
EC Number2.1.2.3
SummaryThis gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]
OrthologsView orthologs and multiple alignments for ATIC

Proteins

bifunctional purine biosynthesis protein PURH
Refseq ID:NP_004035
Protein GI:20127454
UniProt ID:P31939
mRNA ID:NM_004044
Length:592
RefSeq Status:
MAPGQLALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDAGLAVRDVSELTGFPEMLGGRVKTLHPAVHAGILARNIPEDNADMARLDFNLIRVVA
CNLYPFVKTVASPGVTVEEAVEQIDIGGVTLLRAAAKNHARVTVVCEPEDYVVVSTEMQSSESKDTSLETRRQLALKAFTHTAQYDEAISDYFRKQYSKG
VSQMPLRYGMNPHQTPAQLYTLQPKLPITVLNGAPGFINLCDALNAWQLVKELKEALGIPAAASFKHVSPAGAAVGIPLSEDEAKVCMVYDLYKTLTPIS
AAYARARGADRMSSFGDFVALSDVCDVPTAKIISREVSDGIIAPGYEEEALTILSKKKNGNYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLF
SNVVTKNKDLPESALRDLIVATIAVKYTQSNSVCYAKNGQVIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKTGVKRAEISNAIDQYVTGTIG
EDEDLIKWKALFEEVPELLTEAEKKEWVEKLTEVSISSDAFFPFRDNVDRAKRSGVAYIAAPSGSAADKVVIEACDELGIILAHTNLRLFHH