DHODH
entrez
1723
canonical
uniprot
Q02127
canonical
ensembl
ENSG00000102967
resolver
ensp
ENSP00000219240
resolver
enst
ENST00000219240
resolver
genesymbol
DHODH
resolver
hgnc
HGNC:2867
resolver
uniprot
A8K8C8
resolver
uniprot
Q6P176
resolver
uniprot_entry
PYRD_HUMAN
resolver
uniprot_sec
A8K8C8
resolver
uniprot_sec
Q6P176
resolver
amino_acid_sequence
MAWRHLKKRAQDAVIILGGGGLLFASYLMATGDERFYAEHLMPTLQGLLDPESAHRLAVRFTSLGLLPRARFQDSDMLEVRVLGHKFRNPVGIAAGFDKHGEAVDGLYKMGFGFVEIGSVTPKPQEGNPRPRVFRLPEDQAVINRYGFNSHGLSVVEHRLRARQQKQAKLTEDGLPLGVNLGKNKTSVDAAEDYAEGVRVLGPLADYLVVNVSSPNTAGLRSLQGKAELRRLLTKVLQERDGLRRVHRPAVLVKIAPDLTSQDKEDIASVVKELGIDGLIVTNTTVSRPAGLQGALRSETGGLSGKPLRDLSTQTIREMYALTQGRVPIIGVGGVSSGQDALEKIRAGASLVQLYTALTFWGPPVVGKVKRELEALLKEQGFGGVTDAIGADHRR
uniprot
proteins
disease_involvement
DISEASE: Postaxial acrofacial dysostosis (POADS) [MIM:263750]: An autosomal recessive syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. {ECO:0000269|PubMed:19915526}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.5.2
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. Required for UMP biosynthesis via de novo pathway. {ECO:0000269|PubMed:8925840}.
uniprot
proteins
mass_dalton
42867
uniprot
proteins
pathway_participation
PATHWAY: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1.
uniprot
proteins
post_translational_modification
PTM: The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.
uniprot
proteins
protein_family
Dihydroorotate dehydrogenase family
uniprot
proteins
protein_family
Type 2 subfamily
uniprot
proteins
pubmed
10673429
uniprot
proteins
pubmed
10727948
uniprot
proteins
pubmed
1446837
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16480261
uniprot
proteins
pubmed
19915526
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7487077
uniprot
proteins
pubmed
8925840
uniprot
proteins
sequence_length
395
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:10727948}; Single-pass membrane protein {ECO:0000269|PubMed:10727948}.
uniprot
proteins
transmembrane_region
TRANSMEM 11..30; /note="Helical"; /evidence="ECO:0000250
uniprot
proteins