InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: QDPR

Summary

InnateDB Protein

IDBP-10910.6

Last Modified

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

Gene Symbol

QDPR

Protein Name

quinoid dihydropteridine reductase

Synonyms

DHPR; PKU2; SDR33C1;

Species

Homo sapiens

Ensembl Protein

ENSP00000281243

InnateDB Gene

IDBG-10906 (QDPR)

Protein Structure

UniProt Annotation

Function

The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.

Subcellular Localization

Disease Associations

Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]: Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated. {ECO:0000269PubMed:10408783, ECO:0000269PubMed:11153907, ECO:0000269PubMed:2116088, ECO:0000269PubMed:8326489, ECO:0000269PubMed:9744478}. 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 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004155	6,7-dihydropteridine reductase activity
GO:0009055	electron carrier activity
GO:0016491	oxidoreductase activity
GO:0042803	protein homodimerization activity
GO:0070402	NADPH binding
GO:0070404	NADH binding

Biological Process

GO:0001889	liver development
GO:0006520	cellular amino acid metabolic process
GO:0006559	L-phenylalanine catabolic process
GO:0006729	tetrahydrobiopterin biosynthetic process
GO:0008152	metabolic process
GO:0010044	response to aluminum ion
GO:0010288	response to lead ion
GO:0033762	response to glucagon
GO:0034641	cellular nitrogen compound metabolic process
GO:0035690	cellular response to drug
GO:0044281	small molecule metabolic process
GO:0051066	dihydrobiopterin metabolic process
GO:0055114	oxidation-reduction process