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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

    Gene LinkOut

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