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Details on Person UniProt:Q02127 DHODH
| Class:Id | ReferenceGeneProduct:62547 |
|---|---|
| _chainChangeLog | chain:1-395 added on Fri February 6 2015;transit peptide:1-10 added on Fri February 6 2015 |
| _displayName | UniProt:Q02127 DHODH |
| _timestamp | 2025-02-21 19:42:11 |
| chain | chain:1-395 transit peptide:1-10 |
| checksum | 072C3169E78C6440 |
| comment | FUNCTION Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. Required for UMP biosynthesis via de novo pathway.CATALYTIC ACTIVITY (S)-dihydroorotate + a quinone = orotate + a quinolCOFACTOR Binds 1 FMN per subunit.PATHWAY Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1.SUBUNIT Monomer.INTERACTION The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS The identification of DHODH defects as the cause of postaxial acrofacial dysostosis (POADS) was obtained via exome sequencing (PubMed:19915526), demonstrating that this method is a powerful tool for identifying genes underlying rare Mendelian disorders. Exome sequencing consists of targeted resequencing of all protein-coding subsequences, which requires around 5% as much sequencing as a whole human genome.SIMILARITY Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily. |
| description | recommendedName: Dihydroorotate dehydrogenase (quinone), mitochondrial shortName: DHOdehase ecNumber evidence="8"1.3.5.2 alternativeName: Dihydroorotate oxidase |
| geneName | DHODH |
| identifier | Q02127 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Disease variant Flavoprotein FMN Membrane Mitochondrion Mitochondrion inner membrane Oxidoreductase Proteomics identification Pyrimidine biosynthesis Reference proteome Transit peptide Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | DHODH |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8995073] ENSEMBL:ENSG00000102967 DHODH [Homo sapiens] |
| secondaryIdentifier | PYRD_HUMAN A8K8C8 Q6P176 |
| sequenceLength | 395 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:73523] DHODH [mitochondrial inner membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q02127 DHODH (62547)
