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    PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 [ Homo sapiens (human) ]

    Gene ID: 5092, updated on 16-Jul-2021

    Summary

    Official Symbol
    PCBD1provided by HGNC
    Official Full Name
    pterin-4 alpha-carbinolamine dehydratase 1provided by HGNC
    Primary source
    HGNC:HGNC:8646
    See related
    Ensembl:ENSG00000166228 MIM:126090
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Expression
    Ubiquitous expression in liver (RPKM 47.7), kidney (RPKM 31.6) and 25 other tissues See more
    Orthologs
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    Genomic context

    See PCBD1 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (70882280..70888565, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72642037..72648322, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S26 pseudogene 40 Neighboring gene sphingosine-1-phosphate lyase 1 Neighboring gene long intergenic non-protein coding RNA 2622 Neighboring gene uncharacterized LOC105378350

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hyperphenylalaninemia, BH4-deficient, D
    MedGen: C1849700 OMIM: 264070 GeneReviews: Not available
    Compare labs
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4-alpha-hydroxytetrahydrobiopterin dehydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phenylalanine 4-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in L-phenylalanine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    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)
    dimerizing cofactor for HNF1
    phenylalanine hydroxylase-stimulating protein
    pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
    NP_000272.1
    NP_001276726.1
    NP_001309933.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008646.1 RefSeqGene

      Range
      5220..10275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000281.4NP_000272.1  pterin-4-alpha-carbinolamine dehydratase isoform 1

      See identical proteins and their annotated locations for NP_000272.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC006324, BQ685076
      Consensus CDS
      CCDS31217.1
      UniProtKB/Swiss-Prot
      P61457
      Related
      ENSP00000299299.3, ENST00000299299.4
      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 ...
    2. NM_001289797.2NP_001276726.1  pterin-4-alpha-carbinolamine dehydratase isoform 3

      See identical proteins and their annotated locations for NP_001276726.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC006324, BI548743
      UniProtKB/Swiss-Prot
      P61457
      Conserved Domains (1) summary
      cl00942
      Location:150
      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. NM_001323004.2NP_001309933.1  pterin-4-alpha-carbinolamine dehydratase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has an alternate C-terminus compared to isoform 1.
      Source sequence(s)
      AC073176, HY292808
      Related
      ENST00000493961.5
      Conserved Domains (1) summary
      cl00942
      Location:2474
      PCD_DCoH; 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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      70882280..70888565 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001001939.1: Suppressed sequence

      Description
      NM_001001939.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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