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Aliases for PCBD1 Gene

Aliases for PCBD1 Gene

  • Pterin-4 Alpha-Carbinolamine Dehydratase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha 2 3
  • DCOH 3 4 6
  • PCBD 3 4 6
  • 6-Pyruvoyl-Tetrahydropterin Synthase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha (TCF1) 2 3
  • Phenylalanine Hydroxylase-Stimulating Protein 3 4
  • 4-Alpha-Hydroxy-Tetrahydropterin Dehydratase 3 4
  • Dimerizing Cofactor For HNF1 2 3
  • EC 4.2.1.96 4 63
  • PHS 3 4
  • PCD 3 4
  • Pterin-4 Alpha-Carbinolamine Dehydratase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha (TCF1) 2
  • Pterin-4a-Carbinolamine Dehydratase (Dimerization Cofactor Of Hepatic Nuclear Factor 1-Alpha) 2
  • Dimerization Cofactor Of Hepatocyte Nuclear Factor 1-Alpha 4
  • Pterin-4-Alpha Carbinolamine Dehydratase 2
  • Pterin-4-Alpha-Carbinolamine Dehydratase 3
  • Pterin Carbinolamine Dehydratase 4
  • Dimerization Cofactor Of HNF1 4

External Ids for PCBD1 Gene

Previous HGNC Symbols for PCBD1 Gene

  • DCOH
  • PCBD

Previous GeneCards Identifiers for PCBD1 Gene

  • GC10M072314
  • GC10M072642
  • GC10M066637

Summaries for PCBD1 Gene

Entrez Gene Summary for PCBD1 Gene

  • 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]

GeneCards Summary for PCBD1 Gene

PCBD1 (Pterin-4 Alpha-Carbinolamine Dehydratase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha) is a Protein Coding gene. Diseases associated with PCBD1 include hyperphenylalaninemia, bh4-deficient, d and hyperphenylalaninemia. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include identical protein binding and phenylalanine 4-monooxygenase activity. An important paralog of this gene is PCBD2.

UniProtKB/Swiss-Prot for PCBD1 Gene

  • Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity

Gene Wiki entry for PCBD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCBD1 Gene

Genomics for PCBD1 Gene

Regulatory Elements for PCBD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PCBD1 Gene

Start:
70,882,280 bp from pter
End:
70,888,784 bp from pter
Size:
6,505 bases
Orientation:
Minus strand

Genomic View for PCBD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCBD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCBD1 Gene

Proteins for PCBD1 Gene

  • Protein details for PCBD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61457-PHS_HUMAN
    Recommended name:
    Pterin-4-alpha-carbinolamine dehydratase
    Protein Accession:
    P61457
    Secondary Accessions:
    • P70519
    • P80095
    • Q9D930

    Protein attributes for PCBD1 Gene

    Size:
    104 amino acids
    Molecular mass:
    12000 Da
    Quaternary structure:
    • Homotetramer and homodimer. Heterotetramer with HNF1A; formed by a dimer of dimers (By similarity).

neXtProt entry for PCBD1 Gene

Proteomics data for PCBD1 Gene at MOPED

Selected DME Specific Peptides for PCBD1 Gene

Post-translational modifications for PCBD1 Gene

  • Ubiquitination at Lys41 and Lys59
  • Modification sites at PhosphoSitePlus

Other Protein References for PCBD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PCBD1 Gene

Protein Domains for PCBD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PCBD1 Gene

Graphical View of Domain Structure for InterPro Entry

P61457

UniProtKB/Swiss-Prot:

PHS_HUMAN :
  • P61457
Family:
  • Belongs to the pterin-4-alpha-carbinolamine dehydratase family.
genes like me logo Genes that share domains with PCBD1: view

No data available for Gene Families for PCBD1 Gene

Function for PCBD1 Gene

Molecular function for PCBD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: (6R)-6-(L-erythro-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin = (6R)-6-(L-erythro-1,2-dihydroxypropyl)-7,8-dihydro-6H-pterin + H(2)O
UniProtKB/Swiss-Prot Function: Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity

Enzyme Numbers (IUBMB) for PCBD1 Gene

Gene Ontology (GO) - Molecular Function for PCBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IEA --
GO:0004505 phenylalanine 4-monooxygenase activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0008124 4-alpha-hydroxytetrahydrobiopterin dehydratase activity EXP --
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with PCBD1: view
genes like me logo Genes that share phenotypes with PCBD1: view

Animal Models for PCBD1 Gene

MGI Knock Outs for PCBD1:

Animal Model Products

CRISPR Products

miRNA for PCBD1 Gene

miRTarBase miRNAs that target PCBD1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCBD1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for PCBD1 Gene

Localization for PCBD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCBD1 Gene

Cytoplasm. Nucleus. Note=Cytoplasmic and/or nuclear.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCBD1 Gene COMPARTMENTS Subcellular localization image for PCBD1 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 2

Gene Ontology (GO) - Cellular Components for PCBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PCBD1: view

Pathways for PCBD1 Gene

genes like me logo Genes that share pathways with PCBD1: view

Pathways by source for PCBD1 Gene

Gene Ontology (GO) - Biological Process for PCBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006729 tetrahydrobiopterin biosynthetic process IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0043496 regulation of protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with PCBD1: view

Compounds for PCBD1 Gene

(6) HMDB Compounds for PCBD1 Gene

Compound Synonyms Cas Number PubMed IDs
(6R)-6-(L-Erythro-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin
  • hydroxypterin
Not Available
4a-Hydroxytetrahydrobiopterin
  • 2-amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one
70110-58-6
Dihydrobiopterin
  • (S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone
6779-87-9
O2'-4a-cyclic-tetrahydrobiopterin
  • 4a-cyclic-tetrahydrobiopterin
Not Available
Tetrahydrobiopterin
  • (1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol
17528-72-2

(1) Drugbank Compounds for PCBD1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
7,8-Dihydrobiopterin
  • 7,8-Dihydro-L-Biopterin
6779-87-9 target

(14) Novoseek inferred chemical compound relationships for PCBD1 Gene

Compound -log(P) Hits PubMed IDs
pcbd 95.5 11
7-biopterin 93.7 2
4a-hydroxytetrahydrobiopterin 92.5 2
dihydropteridine 87.7 5
6-pyruvoyltetrahydropterin 87.5 5
genes like me logo Genes that share compounds with PCBD1: view

Transcripts for PCBD1 Gene

mRNA/cDNA for PCBD1 Gene

Unigene Clusters for PCBD1 Gene

Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCBD1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCBD1 Gene

No ASD Table

Relevant External Links for PCBD1 Gene

GeneLoc Exon Structure for
PCBD1
ECgene alternative splicing isoforms for
PCBD1

Expression for PCBD1 Gene

mRNA expression in normal human tissues for PCBD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCBD1 Gene

This gene is overexpressed in Liver (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCBD1 Gene

SOURCE GeneReport for Unigene cluster for PCBD1 Gene Hs.3192

genes like me logo Genes that share expressions with PCBD1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PCBD1 Gene

Orthologs for PCBD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCBD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCBD1 35
  • 99.04 (n)
  • 100 (a)
PCBD1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PCBD1 35
  • 91.67 (n)
  • 99.04 (a)
PCBD1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCBD1 35
  • 93.53 (n)
  • 99.03 (a)
PCBD1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcbd1 35
  • 90.71 (n)
  • 99.04 (a)
Pcbd1 16
Pcbd1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCBD1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCBD1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcbd1 35
  • 91.03 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves PCBD1 35
  • 81.09 (n)
  • 92.31 (a)
PCBD1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCBD1 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397951 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pcbd1 35
  • 77.56 (n)
  • 87.5 (a)
Str.6116 35
zebrafish
(Danio rerio)
Actinopterygii pcbd1 35
  • 72.28 (n)
  • 72.28 (a)
pcbd1 36
  • 72 (a)
OneToOne
zgc73389 35
fruit fly
(Drosophila melanogaster)
Insecta Pcd 35
  • 63.12 (n)
  • 60.64 (a)
Pcd 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pcbd-1 36
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for PCBD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCBD1 Gene

ENSEMBL:
Gene Tree for PCBD1 (if available)
TreeFam:
Gene Tree for PCBD1 (if available)

Paralogs for PCBD1 Gene

Paralogs for PCBD1 Gene

Selected SIMAP similar genes for PCBD1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PCBD1: view

Variants for PCBD1 Gene

Sequence variations from dbSNP and Humsavar for PCBD1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs9712 -- 70,883,914(-) GGGAA(A/C/G/T)GGGTG utr-variant-3-prime, intron-variant
rs15279 -- 70,883,615(+) CACCC(C/T)GTATC utr-variant-3-prime, intron-variant
rs827237 -- 70,888,579(-) cgccc(A/G)gccgc utr-variant-5-prime, upstream-variant-2KB
rs827238 -- 70,888,377(-) GTCGC(C/T)GGCGG intron-variant, upstream-variant-2KB
rs827239 -- 70,888,329(-) CGGGT(C/T)CGAAT intron-variant, upstream-variant-2KB

Relevant External Links for PCBD1 Gene

HapMap Linkage Disequilibrium report
PCBD1
Human Gene Mutation Database (HGMD)
PCBD1
Locus Specific Mutation Databases (LSDB)
PCBD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PCBD1 Gene

Disorders for PCBD1 Gene

(1) OMIM Diseases for PCBD1 Gene (126090)

UniProtKB/Swiss-Prot

PHS_HUMAN
  • Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070]: An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor. {ECO:0000269 PubMed:8352282, ECO:0000269 PubMed:9760199}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PCBD1 Gene

(11) Novoseek inferred disease relationships for PCBD1 Gene

Disease -log(P) Hits PubMed IDs
hyperphenylalaninemia 89 4
vitiligo 57.8 2
niddm 55.6 7
phenylketonurias 35.6 1
insulin sensitivity 18.6 1

Relevant External Links for PCBD1

Genetic Association Database (GAD)
PCBD1
Human Genome Epidemiology (HuGE) Navigator
PCBD1
genes like me logo Genes that share disorders with PCBD1: view

Publications for PCBD1 Gene

  1. Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. (PMID: 1763325) Mendel D.B. … Crabtree G.R. (Science 1991) 3 4 23
  2. Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha- carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence. (PMID: 8444860) Hauer C.R. … Heizmann C.W. (J. Biol. Chem. 1993) 3 4 23
  3. Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10. (PMID: 8486378) Milatovich A. … Francke U. (Genomics 1993) 2 3 23
  4. Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha. (PMID: 7763270) Thoeny B. … Heizmann C.W. (Biochem. Biophys. Res. Commun. 1995) 3 4 23
  5. Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. (PMID: 9760199) Thoeny B. … Blau N. (Hum. Genet. 1998) 3 4 23

Products for PCBD1 Gene

Sources for PCBD1 Gene

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