Bos taurus Gene: PCBD1
Summary
InnateDB Gene IDBG-629809.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PCBD1
Gene Name Pterin-4-alpha-carbinolamine dehydratase
Synonyms DCoH; PCD; PHS
Species Bos taurus
Ensembl Gene ENSBTAG00000011866
Encoded Proteins
Pterin-4-alpha-carbinolamine dehydratase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000166228:
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 28:27226795-27231724
Strand Reverse strand
Band
Transcripts
ENSBTAT00000015750 ENSBTAP00000015750
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 86 interaction(s) predicted by orthology.
Predicted by orthology
Total 86 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004505 phenylalanine 4-monooxygenase activity
GO:0005515 protein binding
GO:0008124 4-alpha-hydroxytetrahydrobiopterin dehydratase activity
GO:0016829 lyase activity
GO:0042802 identical protein binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006729 tetrahydrobiopterin biosynthetic process
GO:0051289 protein homotetramerization
GO:0051291 protein heterooligomerization
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Metabolism of amino acids and derivatives pathway
Phenylalanine and tyrosine catabolism pathway
Metabolism pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Phenylalanine and tyrosine catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
Phenylalanine and tyrosine catabolism pathway
Metabolism pathway
Metabolism of amino acids and derivatives pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q3ZBD3
TrEMBL
UniProt Splice Variant
Entrez Gene 530736
UniGene Bt.48735
RefSeq NM_001206474
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BC103434
GenPept AAI03435
RNA Seq Atlas 530736