InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DHODH

Summary

InnateDB Protein

IDBP-41411.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DHODH

Protein Name

dihydroorotate dehydrogenase (quinone)

Synonyms

DHOdehase; POADS; URA1;

Species

Homo sapiens

Ensembl Protein

ENSP00000219240

InnateDB Gene

IDBG-41409 (DHODH)

Protein Structure

UniProt Annotation

Function

Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000269PubMed:10727948}; Single-pass membrane protein {ECO:0000269PubMed:10727948}.

Disease Associations

Postaxial acrofacial dysostosis (POADS) [MIM:263750]: POADS is 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. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases. {ECO:0000269PubMed:19915526}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004152	dihydroorotate dehydrogenase activity
GO:0008144	drug binding
GO:0010181	FMN binding
GO:0048039	ubiquinone binding

Biological Process

GO:0006206	pyrimidine nucleobase metabolic process
GO:0006207	'de novo' pyrimidine nucleobase biosynthetic process
GO:0006222	UMP biosynthetic process
GO:0007565	female pregnancy
GO:0007595	lactation
GO:0014070	response to organic cyclic compound
GO:0031000	response to caffeine
GO:0042493	response to drug
GO:0042594	response to starvation
GO:0043065	positive regulation of apoptotic process
GO:0044205	'de novo' UMP biosynthetic process
GO:0044281	small molecule metabolic process
GO:0046134	pyrimidine nucleoside biosynthetic process
GO:0055086	nucleobase-containing small molecule metabolic process
GO:0055114	oxidation-reduction process
GO:0090140	regulation of mitochondrial fission