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

Gene ID: 5092, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:8646
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

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See PCBD1 in Genome Data Viewer
Location:
10q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70882280..70888565, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (71752084..71758371, complement)
105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 2451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2453 Neighboring gene sphingosine-1-phosphate lyase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72663371-72663919 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72677493-72677667 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72678259-72678439 Neighboring gene long intergenic non-protein coding RNA 2622 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:72730532-72731153 Neighboring gene uncharacterized LOC105378350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72740721-72741222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72741223-72741722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2458

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency? Hevel JM, et al. Mol Genet Metab, 2006 May. PMID 16423549
  2. Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1. Lei XD, et al. DNA Cell Biol, 1999 Mar. PMID 10098606
  3. Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Thöny B, et al. Hum Genet, 1998 Aug. PMID 9760199
  4. Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). Thöny B, et al. Am J Hum Genet, 1998 Jun. PMID 9585615, Free PMC Article
  5. Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1. Johnen G, et al. Proc Natl Acad Sci U S A, 1997 Dec 9. PMID 9391049, Free PMC Article

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. We provide the first genetic evidence that PCBD1 mutations can cause early-onset nonautoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes.
    Title: Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
  2. Coactivator of the HNFB1 (HNF1 homeobox B)-mediated transcription is necessary for fine tuning ATPase Na+/K+ transporting gamma 1 polypeptide (FXYD2) transcription in the distal convoluted tubule
    Title: Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
  3. Pcbd1 is a moonlighting protein that has dehydratase activity in addition to functioning as a cofactor which regulates HNF1alpha.
    Title: The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.
  5. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Examination of tetrahydrobiopterin pathway genes in autism.
  6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
  8. Data reveal DCoH/HNF-1 alpha expression and transcriptional activity in human epidermal melanocytes in vitro and in situ and identified tyrosinase, the key enzyme for pigmentation, as a new transcriptional target.
    Title: In situ and in vitro evidence for DCoH/HNF-1 alpha transcription of tyrosinase in human skin melanocytes.
  9. Properties of dehydratase/DCoHalpha are consistent with hypothesis that activity of this isozyme could account for relatively mild symptoms reported for patients with a defect in dehydratase/DCoH
    Title: Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?
  10. Albumin colocalized together with its transcription factor PCD/DCoH/HNF-1alpha in suprabasal keratinocytes in human full-thickness skin sections and in keratinocytes cultured in serum-free medium.
    Title: In vivo and in vitro evidence for autocrine DCoH/HNF-1alpha transcription of albumin in the human epidermis.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
MedGen: C1849700 OMIM: 264070 GeneReviews: Not available
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EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 GOA

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 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 TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of DNA-templated transcription 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

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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)

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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.

Genomic

  1. NG_008646.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000281.4 → NP_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, P70519, P80095, Q9D930
    UniProtKB/TrEMBL
    Q6FGB3
    Related
    ENSP00000299299.3, ENST00000299299.4
    Conserved Domains (1) summary
    cd00914
    Location:24 → 99
    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_001289797.2 → NP_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: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 ...

  3. NM_001323004.2 → NP_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:24 → 74
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    71752084..71758371 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P61457.2 GenPept UniProtKB/Swiss-Prot:P61457

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