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Aliases for PCBD1 Gene

Aliases for PCBD1 Gene

  • Pterin-4 Alpha-Carbinolamine Dehydratase 1 2 3 5
  • 6-Pyruvoyl-Tetrahydropterin Synthase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha (TCF1) 2 3
  • Pterin-4 Alpha-Carbinolamine Dehydratase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha 2 3
  • Phenylalanine Hydroxylase-Stimulating Protein 3 4
  • 4-Alpha-Hydroxy-Tetrahydropterin Dehydratase 3 4
  • Dimerizing Cofactor For HNF1 2 3
  • DCOH 3 4
  • PCBD 3 4
  • PCD 3 4
  • PHS 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 3
  • Pterin-4-Alpha Carbinolamine Dehydratase 2
  • Pterin Carbinolamine Dehydratase 4
  • Dimerization Cofactor Of HNF1 4
  • EC 4.2.1.96 4
  • DCoH 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 1) is a Protein Coding gene. Diseases associated with PCBD1 include Hyperphenylalaninemia, Bh4-Deficient, D and Hyperphenylalaninemia. Among its related pathways are Folate biosynthesis and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Gene Ontology (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

Additional gene information for PCBD1 Gene

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

Genomics for PCBD1 Gene

GeneHancer (GH) Regulatory Elements for PCBD1 Gene

Promoters and enhancers for PCBD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J070887 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 661.1 +0.4 435 2.4 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B PCBD1 SGPL1 PIR33878
GH10J070831 Enhancer 1.3 FANTOM5 Ensembl ENCODE 21.3 +55.6 55599 3.7 RAD21 RARA YY1 ZNF614 FOS RUNX3 RXRA REST PPARG NR2F2 SGPL1 PCBD1 GC10P070863
GH10J070477 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 +409.6 409558 3.4 HDGF PKNOX1 ARNT IRF4 KLF13 SP3 JUNB SMARCA4 GLIS1 NBN PALD1 NODAL PCBD1 YY1P1
GH10J071265 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -380.3 -380304 7.7 HDGF PKNOX1 SMAD1 FEZF1 ZNF2 YY1 ZNF143 ZNF548 FOS SP3 UNC5B UNC5B-AS1 SLC29A3 EIF4EBP2 CDH23-AS1 CDH23 PCBD1 PIR34735 PIR59347
GH10J071231 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -345.7 -345734 5.3 HDGF PKNOX1 FEZF1 ZNF121 GLIS2 GATA2 KLF7 ATF7 ZNF610 GLIS1 UNC5B UNC5B-AS1 PCBD1 SLC29A3 C10orf105 PIR59347
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCBD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCBD1 gene promoter:

Genomic Locations for PCBD1 Gene

Genomic Locations for PCBD1 Gene
chr10:70,882,280-70,888,786
(GRCh38/hg38)
Size:
6,507 bases
Orientation:
Minus strand
chr10:72,642,037-72,648,541
(GRCh37/hg19)

Genomic View for PCBD1 Gene

Genes around PCBD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCBD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for PCBD1 Gene

  • Ubiquitination at isoforms=59 and isoforms=41
  • Modification sites at PhosphoSitePlus

Other Protein References for PCBD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCBD1 Gene

Domains & Families for PCBD1 Gene

Gene Families for PCBD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

Function for PCBD1 Gene

Molecular function for PCBD1 Gene

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.
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.

Enzyme Numbers (IUBMB) for PCBD1 Gene

Phenotypes From GWAS Catalog 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 8444860
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with PCBD1: view
genes like me logo Genes that share phenotypes with PCBD1: view

Human Phenotype Ontology for PCBD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCBD1 Gene

MGI Knock Outs for PCBD1:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCBD1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCBD1 Gene

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

Pathways & Interactions for PCBD1 Gene

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

Gene Ontology (GO) - Biological Process for PCBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006558 L-phenylalanine metabolic process IEA --
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006729 tetrahydrobiopterin biosynthetic process IEA --
genes like me logo Genes that share ontologies with PCBD1: view

No data available for SIGNOR curated interactions for PCBD1 Gene

Drugs & Compounds for PCBD1 Gene

(7) Drugs for PCBD1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ferrous sulfate Approved, Experimental Pharma Enzyme 0
Water Approved Pharma 0
dihydrobiopterin Experimental Pharma Target 0
Tetrahydrobiopterin Pharma 0

(10) Additional Compounds for PCBD1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4a-hydroxytetrahydrobiopterin
  • (6R)-6-(L-erythro-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin
  • 4a-Hydroxy-5,6,4,8-tetrahydrobiopterin
  • 2-amino-6-(1,2-Dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4ah)-one
  • 2-amino-6-(1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxy-4(4ah)-pteridinone
  • 2-amino-6-[(1R,2S)-1,2-Dihydroxypropyl]-4a-hydroxy-1,5,6,7-tetrahydropteridin-4-one
70110-58-6
4a-Carbinolamine tetrahydrobiopterin
  • 6,7-Dihydrobiopterin
  • Quinoid-dihydrobiopterin
  • (6R)-6-(L-erythro-1,2-Dihydroxypropyl)-7,8-dihydro-6H-pterin
  • 1,3,5-Benzenetriol
  • 1,3,5-Trihydroxybenzene
79647-29-3
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x5.7).

Protein differential expression in normal tissues from HIPED for PCBD1 Gene

This gene is overexpressed in Liver, secretome (23.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCBD1 Gene



Protein tissue co-expression partners for PCBD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCBD1 Gene:

PCBD1

SOURCE GeneReport for Unigene cluster for PCBD1 Gene:

Hs.3192

Evidence on tissue expression from TISSUES for PCBD1 Gene

  • Liver(4.6)
  • Muscle(4.4)
  • Pancreas(3.6)
  • Kidney(2.6)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCBD1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • head
Abdomen:
  • kidney
General:
  • skin
genes like me logo Genes that share expression patterns with PCBD1: view

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 34 33
  • 99.04 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCBD1 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCBD1 34 33
  • 93.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PCBD1 34 33
  • 91.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcbd1 33
  • 91.03 (n)
mouse
(Mus musculus)
Mammalia Pcbd1 16 34 33
  • 90.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PCBD1 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCBD1 34 33
  • 81.09 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCBD1 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcbd1 33
  • 77.56 (n)
Str.6116 33
African clawed frog
(Xenopus laevis)
Amphibia LOC397951 33
zebrafish
(Danio rerio)
Actinopterygii pcbd1 34 33
  • 72.28 (n)
OneToOne
zgc73389 33
fruit fly
(Drosophila melanogaster)
Insecta Pcd 34 33
  • 63.12 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pcbd-1 34
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToMany
Species where no ortholog for PCBD1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PCBD1: view image

Paralogs for PCBD1 Gene

Paralogs for PCBD1 Gene

(1) SIMAP similar genes for PCBD1 Gene using alignment to 2 proteins:

  • PHS_HUMAN
  • Q6FGB3_HUMAN
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 Variation AA Info Type
rs104894172 pathogenic, Hyperphenylalaninemia, BH4-deficient, D 70,884,006(-) C/A coding_sequence_variant, intron_variant, stop_gained
rs104894177 pathogenic, Hyperphenylalaninemia, BH4-deficient, D, Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070] 70,884,021(-) A/G coding_sequence_variant, intron_variant, missense_variant
rs115117837 pathogenic, Hyperphenylalaninemia, BH4-deficient, D, Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070] 70,884,002(-) C/G/T coding_sequence_variant, intron_variant, missense_variant
rs121913014 pathogenic, Hyperphenylalaninemia, BH4-deficient, D 70,884,029(-) G/A coding_sequence_variant, intron_variant, missense_variant
rs121913015 pathogenic, Hyperphenylalaninemia, BH4-deficient, D 70,883,973(-) G/A coding_sequence_variant, intron_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for PCBD1 Gene

Variant ID Type Subtype PubMed ID
nsv1043245 CNV loss 25217958
nsv551495 CNV loss 21841781

Variation tolerance for PCBD1 Gene

Residual Variation Intolerance Score: 57.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCBD1 Gene

Human Gene Mutation Database (HGMD)
PCBD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCBD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCBD1 Gene

Disorders for PCBD1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PCBD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PCBD1 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for PCBD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PCBD1: view

No data available for Genatlas for PCBD1 Gene

Publications for PCBD1 Gene

  1. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID: 19491146) Clot F … French Dystonia Network (Brain : a journal of neurology 2009) 3 22 44 58
  2. Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function. (PMID: 11668623) Ek J … Pedersen O (Human mutation 2001) 3 22 44 58
  3. Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1. (PMID: 10098606) Lei XD … Kaufman S (DNA and cell biology 1999) 3 4 22 58
  4. Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. (PMID: 9760199) Thöny B … Blau N (Human genetics 1998) 3 4 22 58
  5. 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) Thöny B … Heizmann CW (Biochemical and biophysical research communications 1995) 3 4 22 58

Products for PCBD1 Gene

Sources for PCBD1 Gene

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