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

Gene ID: 5092, updated on 9-Dec-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
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 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 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_000281.4NP_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, ENST00000299299.3
    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

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)
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