InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PCBD1

Summary

InnateDB Gene

IDBG-77554.6

Last Modified

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

Gene Symbol

PCBD1

Gene Name

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

Synonyms

DCOH; PCBD; PCD; PHS

Species

Homo sapiens

Ensembl Gene

ENSG00000166228

Encoded Proteins

IDBP-77556

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1). [provided by RefSeq, Jul 2008]
This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 10:70882280-70888784

Strand

Reverse strand

Band

q22.1

Transcripts

ENST00000299299	ENSP00000299299
ENST00000493961
ENST00000493228

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

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000020098

View Gene Order

ENSBTAG00000011866

Not yet available

Pathways

NETPATH

REACTOME

REACT_1786

Phenylalanine and tyrosine catabolism pathway

REACT_13

Metabolism of amino acids and derivatives pathway

REACT_111217

Metabolism pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_000281

HUGO

OMIM

CCDS

CCDS31217

HPRD

00523

IMGT

EMBL

GenPept

RNA Seq Atlas