QuickView for AICAR (gene)

Gene Symbol:

ATIC Homo sapiens

Full name:

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

Synonyms:

AICAR, AICARFT, HEL-S-70p, IMPCHASE, PURH, bifunctional purine biosynthesis protein PURH, 5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase, AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme, AICARFT/IMPCHASE, epididymis secretory sperm binding protein Li 70p, phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase

Genomic Location:

Chr 2: 215885081-215922724

Description:

This 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.

This 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Danio rerio ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

USF_Q6 ,  CACGTG_MYC_Q2 ,  USF_01

Cytogenetic Map:

2q35

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