ATIC
entrez
471
canonical
uniprot
P31939
canonical
ensembl
ENSG00000138363
resolver
ensp
ENSP00000236959
resolver
genesymbol
ATIC
resolver
genesymbol
HEL-S-70p
resolver
genesymbol_syn
PURH
resolver
hgnc
HGNC:794
resolver
uniprot
A8K202
resolver
uniprot
E9PBU3
resolver
uniprot
Q13856
resolver
uniprot
Q53S28
resolver
uniprot
V9HWH7
resolver
uniprot_entry
PUR9_HUMAN
resolver
uniprot_entry
V9HWH7_HUMAN
resolver
uniprot_sec
A8K202
resolver
uniprot_sec
E9PBU3
resolver
uniprot_sec
Q13856
resolver
uniprot_sec
Q53S28
resolver
activity_regulation
ACTIVITY REGULATION: AMP and XMP inhibit AICAR formyltransferase activity (PubMed:10985775). AICAR formyltransferase activity is inhibited by N-(6-fluoro-1-oxo-1,2-dihydroisoquinolin-7-yl)-5- [(3R)-3-hydroxypyrrolidin-1-yl]thiophene-2-sulfonamide (LSN 3213128), which acts as a tumor suppression in cancer cell lines (PubMed:29072452). {ECO:0000269|PubMed:10985775, ECO:0000269|PubMed:29072452}.
uniprot
proteins
amino_acid_sequence
MAPGQLALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDAGLAVRDVSELTGFPEMLGGRVKTLHPAVHAGILARNIPEDNADMARLDFNLIRVVACNLYPFVKTVASPGVTVEEAVEQIDIGGVTLLRAAAKNHARVTVVCEPEDYVVVSTEMQSSESKDTSLETRRQLALKAFTHTAQYDEAISDYFRKQYSKGVSQMPLRYGMNPHQTPAQLYTLQPKLPITVLNGAPGFINLCDALNAWQLVKELKEALGIPAAASFKHVSPAGAAVGIPLSEDEAKVCMVYDLYKTLTPISAAYARARGADRMSSFGDFVALSDVCDVPTAKIISREVSDGIIAPGYEEEALTILSKKKNGNYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIVATIAVKYTQSNSVCYAKNGQVIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKTGVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKKEWVEKLTEVSISSDAFFPFRDNVDRAKRSGVAYIAAPSGSAADKVVIEACDELGIILAHTNLRLFHH
uniprot
proteins
disease_involvement
DISEASE: AICA-ribosuria due to ATIC deficiency (AICAR) [MIM:608688]: A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. Clinical features include profound intellectual disability, epilepsy, dysmorphic features and congenital blindness. AICAR inheritance is autosomal recessive. {ECO:0000269|PubMed:15114530}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.2.3
uniprot
proteins
ec_number
3.5.4.10
uniprot
proteins
function
FUNCTION: Bifunctional enzyme that catalyzes the last two steps of purine biosynthesis (PubMed:11948179, PubMed:14756554). Acts as a transformylase that incorporates a formyl group to the AMP analog AICAR (5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide) to produce the intermediate formyl-AICAR (FAICAR) (PubMed:10985775, PubMed:11948179, PubMed:9378707). Can use both 10-formyldihydrofolate and 10-formyltetrahydrofolate as the formyl donor in this reaction (PubMed:10985775). Also catalyzes the cyclization of FAICAR to inosine monophosphate (IMP) (PubMed:11948179, PubMed:14756554). Is able to convert thio-AICAR to 6-mercaptopurine ribonucleotide, an inhibitor of purine biosynthesis used in the treatment of human leukemias (PubMed:10985775). Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571). {ECO:0000269|PubMed:10985775, ECO:0000269|PubMed:11948179, ECO:0000269|PubMed:14756554, ECO:0000269|PubMed:25687571, ECO:0000269|PubMed:9378707}.
uniprot
proteins
mass_dalton
64616
uniprot
proteins
mutagenesis
MUTAGEN 66; /note="K->A: Decreased affinity to FAICAR; no change in FAICAR cyclization activity."; /evidence="ECO:0000269|PubMed:14756554"; MUTAGEN 104; /note="Y->A,F: Decreased FAICAR cyclization activity; no change in affinity to FAICAR."; /evidence="ECO:0000269|PubMed:14756554"; MUTAGEN 125; /note="D->A,E,N: Decreased FAICAR cyclization activity; no change in affinity to FAICAR."; /evidence="ECO:0000269|PubMed:14756554"; MUTAGEN 137; /note="K->A: Decreased affinity to FAICAR; no change in FAICAR cyclization activity."; /evidence="ECO:0000269|PubMed:14756554"; MUTAGEN 137; /note="K->R: Decreased FAICAR cyclization activity; no change in affinity to FAICAR."; /evidence="ECO:0000269|PubMed:14756554"; MUTAGEN 213; /note="H->A: Loss of AICAR transformylase activity."; /evidence="ECO:0000269|PubMed:9378707"; MUTAGEN 267; /note="H->A: Loss of AICAR transformylase activity."; /evidence="ECO:0000269|PubMed:9378707
uniprot
proteins
pathway_participation
PATHWAY: Purine metabolism; IMP biosynthesis via de novo pathway; 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide (10-formyl THF route): step 1/1. {ECO:0000269|PubMed:11948179}.; PATHWAY: Purine metabolism; IMP biosynthesis via de novo pathway; IMP from 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide: step 1/1. {ECO:0000269|PubMed:11948179}.
uniprot
proteins
protein_family
PurH family
uniprot
proteins
pubmed
10985775
uniprot
proteins
pubmed
11948179
uniprot
proteins
pubmed
1286667
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14756553
uniprot
proteins
pubmed
14756554
uniprot
proteins
pubmed
14966129
uniprot
proteins
pubmed
15114530
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25687571
uniprot
proteins
pubmed
29072452
uniprot
proteins
pubmed
8567683
uniprot
proteins
pubmed
8867801
uniprot
proteins
pubmed
9378707
uniprot
proteins
sequence_length
592
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P54113}.
uniprot
proteins