Pcbd1 pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pcbd1provided by MGI
Official Full Name: pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1provided by MGI
Primary source: MGI:MGI:94873
See related: Ensembl:ENSMUSG00000020098 AllianceGenome:MGI:94873
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pcd; Phs; Dcoh; Pcbd
Summary: 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. [provided by RefSeq, Apr 2015]
Expression: Biased expression in kidney adult (RPKM 127.9), liver adult (RPKM 120.4) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B4; 10 32.14 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (60925110..60930108)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (61089331..61094329)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mouse Pcbd1 is a moonlighting protein that has dehydratase activity in addition to functioning as a cofactor which regulates HNF1alpha.
Title: Hyperphenylalaninemia and impaired glucose tolerance in mice lacking the bifunctional DCoH gene.
DCoH acts as a cofactor for HNF1 that stabilizes the dimeric HNF1 complex.
Title: Hyperphenylalaninemia and impaired glucose tolerance in mice lacking the bifunctional DCoH gene.
HNF1alpha binding kinetics may distinguish regulation by DCoH2, under thermodynamic control, from regulation by DCoH, under kinetic control
Title: Biochemical and structural basis for partially redundant enzymatic and transcriptional functions of DCoH and DCoH2.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IEA Inferred from Electronic Annotation more info
enables 4-alpha-hydroxytetrahydrobiopterin dehydratase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phenylalanine 4-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in L-phenylalanine metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within regulation of protein binding	ISO Inferred from Sequence Orthology more info	PubMed
involved_in tetrahydrobiopterin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in tyrosine biosynthetic process, by oxidation of phenylalanine	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: pterin-4-alpha-carbinolamine dehydratase

Names: 4-alpha-hydroxy-tetrahydropterin dehydratase; 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1); dimerization cofactor of HNF1; phenylalanine hydroxylase-stimulating protein; pterin carbinolamine dehydratase

NP_079549.1

EC 4.2.1.96

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_025273.4 → NP_079549.1 pterin-4-alpha-carbinolamine dehydratase

See identical proteins and their annotated locations for NP_079549.1

Status: VALIDATED

Source sequence(s)

AC153515, AK007401, BY116433

Consensus CDS

CCDS35913.1

UniProtKB/Swiss-Prot

P61458

Related

ENSMUSP00000020298.7, ENSMUST00000020298.8

Conserved Domains (1) summary

cd00914
Location:24 → 99

PCD_DCoH_subfamily_b; PCD_DCoH: The bifunctional protein pterin-4alpha-carbinolamine dehydratase (PCD), also known as DCoH (dimerization cofactor of hepatocyte nuclear factor-1), is both a transcription activator and a metabolic enzyme. DCoH stimulates gene expression by ...