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Pcbd2 pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 [ Mus musculus (house mouse) ]

Gene ID: 72562, updated on 11-Apr-2024

Summary

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Official Symbol
Pcbd2provided by MGI
Official Full Name
pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2provided by MGI
Primary source
MGI:MGI:1919812
See related
Ensembl:ENSMUSG00000021496 AllianceGenome:MGI:1919812
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
Dcoh2; Dcohm; 2700061N24Rik
Summary
Enables identical protein binding activity and phenylalanine 4-monooxygenase activity. Predicted to be involved in positive regulation of transcription, DNA-templated. Predicted to act upstream of or within tetrahydrobiopterin biosynthetic process. Located in nucleus. Is expressed in bladder; male associated reproductive structure; testis; and urethra of male. Orthologous to human PCBD2 (pterin-4 alpha-carbinolamine dehydratase 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney adult (RPKM 20.8), bladder adult (RPKM 10.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
13 B1; 13 30.06 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (55874957..55924643)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (55727097..55776830)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA B230219D22 gene Neighboring gene STARR-seq mESC enhancer starr_34621 Neighboring gene thioredoxin domain containing 15 Neighboring gene RIKEN cDNA 4930451E10 gene Neighboring gene STARR-seq mESC enhancer starr_34625 Neighboring gene cation channel, sperm associated 3 Neighboring gene STARR-seq mESC enhancer starr_34626 Neighboring gene paired-like homeodomain transcription factor 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A novel enhancer near the Pitx1 gene influences development and evolution of pelvic appendages in vertebrates. Thompson AC, et al. Elife, 2018 Nov 30. PMID 30499775, Free PMC Article
  2. Intestine-specific deletion of SIRT1 in mice impairs DCoH2-HNF-1α-FXR signaling and alters systemic bile acid homeostasis. Kazgan N, et al. Gastroenterology, 2014 Apr. PMID 24389307, Free PMC Article
  3. Biochemical and structural basis for partially redundant enzymatic and transcriptional functions of DCoH and DCoH2. Rose RB, et al. Biochemistry, 2004 Jun 15. PMID 15182178
  4. Mouse brain organization revealed through direct genome-scale TF expression analysis. Gray PA, et al. Science, 2004 Dec 24. PMID 15618518
  5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deletion of intestinal SIRT1 impairs DCoH2-HNF-1alpha-FXR signaling and alters systemic bile acid homeostasis.
    Title: Intestine-specific deletion of SIRT1 in mice impairs DCoH2-HNF-1α-FXR signaling and alters systemic bile acid homeostasis.
  2. 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.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 
Process Evidence Code Pubs
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within tetrahydrobiopterin biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in tetrahydrobiopterin biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrion HDA PubMed 
located_in nucleus IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
pterin-4-alpha-carbinolamine dehydratase 2
Names
4-alpha-hydroxy-tetrahydropterin dehydratase 2
HNF-1-alpha dimerization cofactor
PHS 2
dcoH-like protein DCoHm
dimerization cofactor of hepatocyte nuclear factor 1 (HNF1) from muscle
dimerization cofactor of hepatocyte nuclear factor 1 from muscle
NP_082557.1
XP_006517461.1
XP_006517462.1
XP_006517464.1
XP_011242866.1
XP_030103282.2

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_028281.1 → NP_082557.1  pterin-4-alpha-carbinolamine dehydratase 2

    See identical proteins and their annotated locations for NP_082557.1

    Status: VALIDATED

    Source sequence(s)
    AA013784, BC028642, BY157602
    Consensus CDS
    CCDS26554.1
    UniProtKB/Swiss-Prot
    Q9CZL5
    Related
    ENSMUSP00000021958.6, ENSMUST00000021958.6
    Conserved Domains (1) summary
    cd00914
    Location:57 → 132
    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_000079.7 Reference GRCm39 C57BL/6J

    Range
    55874957..55924643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006517399.4 → XP_006517462.1  pterin-4-alpha-carbinolamine dehydratase 2 isoform X2

    Conserved Domains (1) summary
    cl00942
    Location:37 → 78
    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 associating ...

  2. XM_006517401.5 → XP_006517464.1  pterin-4-alpha-carbinolamine dehydratase 2 isoform X3

    Conserved Domains (1) summary
    cl00942
    Location:57 → 81
    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 associating ...

  3. XM_011244564.3 → XP_011242866.1  pterin-4-alpha-carbinolamine dehydratase 2 isoform X4

    Conserved Domains (1) summary
    cd00914
    Location:34 → 88
    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 ...

  4. XM_006517398.4 → XP_006517461.1  pterin-4-alpha-carbinolamine dehydratase 2 isoform X1

    Conserved Domains (1) summary
    cd00914
    Location:57 → 162
    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 ...

  5. XM_030247422.2 → XP_030103282.2  pterin-4-alpha-carbinolamine dehydratase 2 isoform X5

    Conserved Domains (1) summary
    cl00942
    Location:1 → 50
    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 associating ...
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9CZL5.2 GenPept UniProtKB/Swiss-Prot:Q9CZL5

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