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UniProt functional annotation for P11172 | ||
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| UniProt code: P11172. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Catalytic activity: | |
Reaction=diphosphate + orotidine 5'-phosphate = 5-phospho-alpha-D- ribose 1-diphosphate + orotate; Xref=Rhea:RHEA:10380, ChEBI:CHEBI:30839, ChEBI:CHEBI:33019, ChEBI:CHEBI:57538, ChEBI:CHEBI:58017; EC=2.4.2.10; |
| Catalytic activity: | |
Reaction=H(+) + orotidine 5'-phosphate = CO2 + UMP; Xref=Rhea:RHEA:11596, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57538, ChEBI:CHEBI:57865; EC=4.1.1.23; |
| Pathway: | |
Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 1/2. |
| Pathway: | |
Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 2/2. |
| Subunit: | |
Homodimer. {ECO:0000269|PubMed:18184586}. |
| Disease: | |
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. {ECO:0000269|PubMed:9042911}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family. {ECO:0000305}. |
| Similarity: | |
In the C-terminal section; belongs to the OMP decarboxylase family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=CAB45710.3; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.