Bos taurus Gene: PCBD1 | |||||||||||||
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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
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Protein Structure |
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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] |
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Gene Information | |||||||||||||
Type | Protein coding | ||||||||||||
Genomic Location | Chromosome 28:27226795-27231724 | ||||||||||||
Strand | Reverse strand | ||||||||||||
Band | |||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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Pathways | |||||||||||||
NETPATH | |||||||||||||
REACTOME |
Metabolism of amino acids and derivatives pathway
Phenylalanine and tyrosine catabolism pathway
Metabolism pathway
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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
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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 | ||||||||||||