InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PCBD1

Summary

InnateDB Protein

IDBP-77556.5

Last Modified

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

Gene Symbol

PCBD1

Protein Name

pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha

Synonyms

DCOH; PCBD; PCD; PHS;

Species

Homo sapiens

Ensembl Protein

ENSP00000299299

InnateDB Gene

IDBG-77554 (PCBD1)

Protein Structure

UniProt Annotation

Function

Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.

Subcellular Localization

Cytoplasm. Nucleus. Note=Cytoplasmic and/or nuclear.

Disease Associations

Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070]: An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor. {ECO:0000269PubMed:8352282, ECO:0000269PubMed:9760199}. 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 63 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.

Experimentally validated
Total	63 [view]
Protein-Protein	62 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	15 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003713	transcription coactivator activity
GO:0004505	phenylalanine 4-monooxygenase activity
GO:0005515	protein binding
GO:0008124	4-alpha-hydroxytetrahydrobiopterin dehydratase activity
GO:0042802	identical protein binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006559	L-phenylalanine catabolic process
GO:0006729	tetrahydrobiopterin biosynthetic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0043496	regulation of protein homodimerization activity
GO:0044281	small molecule metabolic process
GO:0045893	positive regulation of transcription, DNA-templated
GO:0051289	protein homotetramerization
GO:0051291	protein heterooligomerization
GO:0055114	oxidation-reduction process