ATIC

Chr 2q35

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

Aliases:: PURH, AICARFT, IMPCHASE
MANE:: ENST00000236959.14

OMIM: 601731 ↗NCBI: 471 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ATIC · P31939

v62025-08-01

Predicted Aligned Error matrix for ATIC — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

97.4/ 100

Very high

592 residues

Confidence breakdown

Very high(≥ 90)99%
Confident(70–90)1%
Low(50–70)0%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

AICA-ribosiduria
0.70
cancer
0.57
Intellectual disability
0.46
anaplastic large cell lymphoma
0.37
lung adenocarcinoma
0.37
squamous cell lung carcinoma
0.37
neurodegenerative disease
0.28
adenosquamous lung carcinoma
0.28
lung large cell carcinoma
0.28
inherited hemoglobinopathy
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Bifunctional purine biosynthesis protein ATIC

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)