Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.1.2.3
Transferases;
Transferring one-carbon groups;
Hydroxymethyl-, formyl- and related transferases;
phosphoribosylaminoimidazolecarboxamide formyltransferase
3.5.4.10
Hydrolases;
Acting on carbon-nitrogen bonds, other than peptide bonds;
In cyclic amidines;
IMP cyclohydrolase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1P4R | 2.55 | Crystal Structure of Human ATIC in complex with folate-based inhibitor BW1540U88UD |
| 1PKX | 1.9 | Crystal Structure of human ATIC in complex with XMP |
| 1PL0 | 2.6 | Crystal structure of human ATIC in complex with folate-based inhibitor, BW2315U89UC |
| 5UY8 | 2.39 | Crystal structure of AICARFT bound to an antifolate |
| 5UZ0 | 1.79 | Crystal structure of AICARFT bound to an antifolate |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0044208 | 'de novo' AMP biosynthetic process |
| Biological Process | GO:0006189 | 'de novo' IMP biosynthetic process |
| Biological Process | GO:0097294 | 'de novo' XMP biosynthetic process |
| Biological Process | GO:0006177 | GMP biosynthetic process |
| Biological Process | GO:0031100 | animal organ regeneration |
| Biological Process | GO:0003360 | brainstem development |
| Biological Process | GO:0098761 | cellular response to interleukin-7 |
| Biological Process | GO:0021549 | cerebellum development |
| Biological Process | GO:0021987 | cerebral cortex development |
| Biological Process | GO:0046452 | dihydrofolate metabolic process |
| Biological Process | GO:0006139 | nucleobase-containing compound metabolic process |
| Biological Process | GO:0009116 | nucleoside metabolic process |
| Biological Process | GO:0010035 | response to inorganic substance |
| Biological Process | GO:0046654 | tetrahydrofolate biosynthetic process |
| Molecular Function | GO:0003937 | IMP cyclohydrolase activity |
| Molecular Function | GO:0045296 | cadherin binding |
| Molecular Function | GO:0004643 | phosphoribosylaminoimidazolecarboxamide formyltransferase activity |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005886 | plasma membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR002695 | Bifunctional purine biosynthesis protein PurH-like |
| IPR011607 | Methylglyoxal synthase-like domain |
| IPR016193 | Cytidine deaminase-like |
| IPR024050 | AICAR transformylase, insert domain superfamily |
| IPR024051 | AICAR transformylase, duplicated domain superfamily |
| IPR036914 | Methylglyoxal synthase-like domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF01808 | AICARFT/IMPCHase bienzyme |
| PF02142 | MGS-like domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-73817 | Purine ribonucleoside monophosphate biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-9725370 | Signaling by ALK fusions and activated point mutants | Internal node | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm, cytosol | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000063 | Fused labia minora |
| HP:0000154 | Wide mouth |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000248 | Brachycephaly |
| HP:0000369 | Low-set ears |
| HP:0000426 | Prominent nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0000565 | Esotropia |
| HP:0000648 | Optic atrophy |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001684 | Secundum atrial septal defect |
| HP:0001943 | Hypoglycemia |
| HP:0002007 | Frontal bossing |
| HP:0002187 | Intellectual disability, profound |
| HP:0002902 | Hyponatremia |
| HP:0003577 | Congenital onset |
| HP:0005487 | Prominent metopic ridge |
| HP:0007875 | Congenital blindness |
| HP:0008665 | Clitoral hypertrophy |
| HP:0010781 | Skin dimple |
| HP:0010864 | Intellectual disability, severe |
| HP:0011220 | Prominent forehead |
| HP:0034565 | Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | High | Supported |
| appendix | glandular cells | High | Supported |
| appendix | lymphoid tissue | High | Supported |
| bone marrow | hematopoietic cells | High | Supported |
| breast | glandular cells | High | Supported |
| breast | myoepithelial cells | High | Supported |
| bronchus | respiratory epithelial cells | High | Supported |
| caudate | glial cells | Low | Supported |
| caudate | neuronal cells | Low | Supported |
| cerebellum | Bergmann glia - cytoplasm/membrane | Medium | Supported |
| cerebellum | Purkinje cells - cytoplasm/membrane | Low | Supported |
| cerebellum | granular cells - cytoplasm/membrane | Medium | Supported |
| cerebellum | molecular layer cells - cytoplasm/membrane | Low | Supported |
| cerebellum | white matter cells - cytoplasm/membrane | Medium | Supported |
| cerebral cortex | endothelial cells | Low | Supported |
| cerebral cortex | glial cells | Low | Supported |
| cerebral cortex | neuronal cells | Medium | Supported |
| cerebral cortex | neuropil | Medium | Supported |
| cervix | glandular cells | Medium | Supported |
| cervix | squamous epithelial cells | Medium | Supported |
| colon | endothelial cells | Low | Supported |
| colon | glandular cells | High | Supported |
| colon | peripheral nerve/ganglion | Low | Supported |
| duodenum | glandular cells | High | Supported |
| endometrium | ciliated epithelial cells | High | Supported |
| endometrium | endothelial cells | Medium | Supported |
| endometrium | lymphocytes | Medium | Supported |
| endometrium | macrophages | High | Supported |
| endometrium | nonciliated glandular epithelial cells | High | Supported |
| endometrium | nonciliated luminal epithelial cells | High | Supported |
| endometrium | smooth muscle cells | Medium | Supported |
| endometrium | stromal fibroblasts | High | Supported |
| endometrium 1 | glandular cells | High | Supported |
| endometrium 2 | glandular cells | High | Supported |
| epididymis | glandular cells | High | Supported |
| esophagus | squamous epithelial cells | Medium | Supported |
| fallopian tube | glandular cells | High | Supported |
| gallbladder | glandular cells | High | Supported |
| heart muscle | cardiomyocytes | Medium | Supported |
| hippocampus | neuronal cells | Low | Supported |
| kidney | cells in glomeruli | High | Supported |
| kidney | cells in tubules | Medium | Supported |
| liver | cholangiocytes | Low | Supported |
| lung | endothelial cells | Low | Supported |
| lung | macrophages | Medium | Supported |
| lymph node | germinal center cells | High | Supported |
| lymph node | non-germinal center cells | High | Supported |
| nasopharynx | respiratory epithelial cells | Medium | Supported |
| oral mucosa | squamous epithelial cells | High | Supported |
| ovary | follicle cells | High | Supported |
| ovary | ovarian stroma cells | High | Supported |
| pancreas | exocrine glandular cells | High | Supported |
| pancreas | pancreatic endocrine cells | Medium | Supported |
| parathyroid gland | glandular cells | High | Supported |
| placenta | cytotrophoblasts | High | Supported |
| placenta | endothelial cells | Medium | Supported |
| placenta | hofbauer cells | High | Supported |
| placenta | syncytiotrophoblasts - cell body | High | Supported |
| placenta | syncytiotrophoblasts - microvilli | High | Supported |
| prostate | glandular cells | Medium | Supported |
| rectum | glandular cells | High | Supported |
| salivary gland | glandular cells | Medium | Supported |
| skeletal muscle | myocytes | Medium | Supported |
| skin 1 | cells in basal layer | Medium | Supported |
| skin 1 | cells in spinous layer | Low | Supported |
| skin 1 | endothelial cells | High | Supported |
| skin 1 | fibrohistiocytic cells | High | Supported |
| skin 1 | langerhans cells | Low | Supported |
| skin 1 | melanocytes | High | Supported |
| skin 1 | vascular mural cells | Low | Supported |
| skin 2 | cells in basal layer | Medium | Supported |
| skin 2 | cells in spinous layer | Low | Supported |
| skin 2 | endothelial cells | High | Supported |
| skin 2 | fibrohistiocytic cells | High | Supported |
| skin 2 | hair follicles | Low | Supported |
| skin 2 | langerhans cells | Low | Supported |
| skin 2 | lymphocytes | High | Supported |
| skin 2 | melanocytes | High | Supported |
| skin 2 | sebaceous glands | Medium | Supported |
| skin 2 | vascular mural cells | Low | Supported |
| small intestine | glandular cells | High | Supported |
| smooth muscle | smooth muscle cells | Medium | Supported |
| soft tissue 1 | chondrocytes | Medium | Supported |
| spleen | cells in red pulp | Medium | Supported |
| spleen | cells in white pulp | High | Supported |
| stomach 1 | glandular cells | High | Supported |
| stomach 2 | glandular cells | High | Supported |
| testis | Leydig cells | Medium | Supported |
| testis | sertoli cells | Low | Supported |
| testis | spermatogonia cells | High | Supported |
| thyroid gland | glandular cells | Medium | Supported |
| tonsil | germinal center cells | High | Supported |
| tonsil | non-germinal center cells | High | Supported |
| tonsil | squamous epithelial cells | High | Supported |
| urinary bladder | urothelial cells | High | Supported |
| vagina | squamous epithelial cells | Medium | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| aica-ribosiduria | MONDO:0012099 | E79 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:608688 | Orphanet:250977 |