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Details of ATIC gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ATIC | PURH | P31939 | PUR9_HUMAN | 471 | ENSG00000138363 | Bifunctional purine biosynthesis protein PURH Phosphoribosylaminoimidazolecarboxamide formyltransferase IMP cyclohydrolase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| AICAR transformylase/IMP cyclohydrolase 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. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness. Note=The disease is caused by mutations affecting the gene represented in this entry. | 608688 | ||||||||
Phenotypes
Abnormal axial skeleton morphology, Abnormal external genitalia, Abnormality of calvarial morphology, Abnormality of cardiac atrium, Abnormality of female external genitalia, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of mouth size, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the atrial septum, Abnormality of the calvaria, Abnormality of the cardiac septa, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the clitoris, Abnormality of the ear, Abnormality of the external nose, Abnormality of the eye, Abnormality of the face, Abnormality of the female genitalia, Abnormality of the forehead, Abnormality of the fundus, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the heart, Abnormality of the integument, Abnormality of the labia, Abnormality of the lip, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nares, Abnormality of the nasal alae, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the optic nerve, Abnormality of the outer ear, Abnormality of the posterior segment of the eye, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of upper lip, Abnormality of upper lip vermillion, Abnormality of vision, Abnormal location of ears, Abnormal muscle tone, Abnormal nasal morphology, Abnormal shape of the frontal region, All, Anteverted nares, Autosomal recessive inheritance, Blindness, Brachycephaly, Clitoromegaly, Cognitive impairment, Congenital blindness, Defect in the atrial septum, Frontal bossing, Fused labia minora, Intellectual disability, Intellectual disability, profound, Low-set ears, Malformation of the heart and great vessels, Mode of inheritance, Muscular hypotonia, Optic atrophy, Phenotypic abnormality, Seizures, Thin lips, Thin upper lip vermilion, Visual impairment, Wide mouth.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Atic | CG11089 | C55F2.1 | Sp-Atic | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| ATIC | GART | 0.690292143 | ATIC | GART | cpx201 | no | no | no | Novel |
| ADSL | ATIC | 0.111151157 | ADSL | ATIC | cpx201 | no | no | no | Novel |
| SHMT1 | ATIC | 0.348901788 | SHMT1 | ATIC | cpx483 | no | no | no | Novel |
| GLO1 | ATIC | 0.214615711 | GLO1 | ATIC | cpx816 | no | no | no | Novel |
| PAICS | ATIC | 0.16395661 | PAICS | ATIC | cpx201 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| KCNAB2 | ATIC | 0.097755804 | KCNAB2 | ATIC |
| PLIN3 | ATIC | 0.076225778 | PLIN3 | ATIC |
| CTBP1 | ATIC | 0.079656444 | CTBP1 | ATIC |
| HSPB1 | ATIC | 0.285891116 | HSPB1 | ATIC |
| ATIC | ELAC2 | 0.074215358 | ATIC | ELAC2 |
| SPR | ATIC | 0.071007949 | SPR | ATIC |
| ATIC | RTN4 | 0.074864952 | ATIC | RTN4 |
| C6orf211 | ATIC | 0.09535383 | C6orf211 | ATIC |
| ATIC | ALDH16A1 | 0.076834353 | ATIC | ALDH16A1 |
| PGM1 | ATIC | 0.073146882 | PGM1 | ATIC |
| DNM1L | ATIC | 0.119205008 | DNM1L | ATIC |
| ACOT13 | ATIC | 0.082753361 | ACOT13 | ATIC |
| YWHAE | ATIC | 0.128702497 | YWHAE | ATIC |
| ATIC | EEF2 | 0.136376402 | ATIC | EEF2 |
| KCNAB1 | ATIC | 0.118299408 | KCNAB1 | ATIC |
| ATIC | TRNT1 | 0.156433444 | ATIC | TRNT1 |
| DERA | ATIC | 0.088608092 | DERA | ATIC |