Protein family
Protein sequence
Protein function
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 |
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 |
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 |
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 |
Disease name | MONDO ID
| ICD10
| ICD10 chapter
| OMIM
| Orphanet
|
---|---|---|---|---|---|
aica-ribosiduria | MONDO:0012099 | E79 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:608688 | Orphanet:250977 |