Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 5092, updated on 2-Oct-2018

    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; Vega:OTTHUMG00000018417
    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

    Genomic context

    See PCBD1 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (70882280..70888786, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72642037..72648541, 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 uncharacterized LOC105378349 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hyperphenylalaninemia, BH4-deficient, D
    MedGen: C1849700 OMIM: 264070 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    4-alpha-hydroxytetrahydrobiopterin dehydratase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    phenylalanine 4-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    L-phenylalanine catabolic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    protein homotetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    tetrahydrobiopterin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus 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)

    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
      4999..10277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000281.3NP_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)
      AA736613, BC006324, BQ685076, BQ897536
      Consensus CDS
      CCDS31217.1
      UniProtKB/Swiss-Prot
      P61457
      Related
      ENSP00000299299.3, OTTHUMP00000019765, ENST00000299299.3, OTTHUMT00000048527
      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_001289797.1NP_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)
      AA736613, AC073176, BC006324, BI548743
      UniProtKB/Swiss-Prot
      P61457
      Conserved Domains (1) summary
      cl00942
      Location:150
      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 ...
    3. NM_001323004.1NP_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
      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 Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      70882280..70888786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center