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Details of UMPS gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| UMPS | --- | P11172 | UMPS_HUMAN | 7372 | ENSG00000114491 | Uridine 5'-monophosphate synthase Orotate phosphoribosyltransferase Orotidine 5'-phosphate decarboxylase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Orotic aciduria 1 (ORAC1) [MIM:258900]: A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. Note=The disease is caused by mutations affecting the gene represented in this entry. | 258900 | ||||||||
Phenotypes
Abnormality of acid-base homeostasis, Abnormality of blood and blood-forming tissues, Abnormality of carboxylic acid metabolism, Abnormality of cellular immune system, Abnormality of erythrocytes, Abnormality of leukocytes, Abnormality of lymphocytes, Abnormality of metabolism/homeostasis, Abnormality of monocarboxylic acid metabolism, Abnormality of nucleobase metabolism, Abnormality of orotic acid metabolism, Abnormality of pyrimidine metabolism, Abnormality of T cells, Abnormality of the immune system, Acidosis, All, Anemia, Anemia of inadequate production, Autosomal recessive inheritance, Folate-unresponsive megaloblastic anemia, Macrocytic anemia, Megaloblastic anemia, Mode of inheritance, Orotic acid crystalluria, Oroticaciduria, Phenotypic abnormality, Pyrimidine-responsive megaloblastic anemia, Reduced orotidine 5-prime phosphate decarboxylase activity.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Umps | r-l | umps-1 | Sp-Umps | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| HIBCH | UMPS | 0.84222764 | HIBCH | UMPS | cpx106 | no | yes | no | Known |
| ALDOA | UMPS | 0.166800794 | ALDOA | UMPS | cpx118 | no | no | no | Novel |
| ALDOC | UMPS | 0.197910178 | ALDOC | UMPS | cpx118 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| UMPS | AASDHPPT | 0.103798685 | UMPS | AASDHPPT |
| UMPS | DUT | 0.172587243 | UMPS | DUT |
| UMPS | GNPDA1 | 0.099446676 | UMPS | GNPDA1 |
| UMPS | ALDH5A1 | 0.087853096 | UMPS | ALDH5A1 |
| UMPS | SEPHS2 | 0.106175781 | UMPS | SEPHS2 |
| UMPS | RNPEP | 0.077102621 | UMPS | RNPEP |
| UMPS | GNPDA2 | 0.139414721 | UMPS | GNPDA2 |
| UMPS | SEPHS1 | 0.075585575 | UMPS | SEPHS1 |
| ISOC1 | UMPS | 0.086530371 | ISOC1 | UMPS |
| UMPS | APRT | 0.134395268 | UMPS | APRT |
| UMPS | GLO1 | 0.129168805 | UMPS | GLO1 |
| UMPS | HMBS | 0.173072762 | UMPS | HMBS |
| UMPS | ALDH16A1 | 0.092704377 | UMPS | ALDH16A1 |
| UMPS | PGAM1 | 0.07374331 | UMPS | PGAM1 |
| UMPS | ITPA | 0.176644244 | UMPS | ITPA |
| ADSS | UMPS | 0.081395749 | ADSS | UMPS |
| UMPS | GBE1 | 0.098049927 | UMPS | GBE1 |