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

Gene ID: 13180, updated on 1-Mar-2024

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
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Genomic context

See Pcbd1 in Genome Data Viewer
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_000076.7Genomic Context describing neighboring genes Neighboring gene microRNA 466j Neighboring gene predicted gene 20611 Neighboring gene sphingosine phosphate lyase 1 Neighboring gene STARR-positive B cell enhancer ABC_E8337 Neighboring gene STARR-positive B cell enhancer mm9_chr10:60610293-60610594 Neighboring gene STARR-seq mESC enhancer starr_26826 Neighboring gene thymus, brain and testes associated

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 lyase activity IEA
Inferred from Electronic Annotation
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 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
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

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

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)

  1. NM_025273.4NP_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:2499
    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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    60925110..60930108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)