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Aliases for PCBD1 Gene

Aliases for PCBD1 Gene

  • Pterin-4 Alpha-Carbinolamine Dehydratase 1 2 3
  • Pterin-4 Alpha-Carbinolamine Dehydratase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha 2 3 5
  • 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
  • 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 2
  • 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 1) is a Protein Coding gene. Diseases associated with PCBD1 include Hyperphenylalaninemia, Bh4-Deficient, D and Ciliary Dyskinesia, Primary, 3, With Or Without Situs Inversus. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Viral mRNA Translation. 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

Enhancers for PCBD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PCBD1 on UCSC Golden Path with GeneCards custom track

Promoters for PCBD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCBD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCBD1 Gene

Chromosome:
10
Start:
70,882,280 bp from pter
End:
70,888,786 bp from pter
Size:
6,507 bases
Orientation:
Minus strand

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

Proteomics data for PCBD1 Gene at MOPED

Selected DME Specific Peptides for PCBD1 Gene

Post-translational modifications for PCBD1 Gene

  • Ubiquitination at Lys 41 and Lys 59
  • Modification sites at PhosphoSitePlus

Other Protein References for PCBD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families 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 :
  • 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

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:0008124 4-alpha-hydroxytetrahydrobiopterin dehydratase activity EXP,IEA 8444860
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

miRNA for PCBD1 Gene

miRTarBase miRNAs that target PCBD1

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
Jensen Localization Image for PCBD1 Gene COMPARTMENTS Subcellular localization image for PCBD1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
chloroplast 1

Gene Ontology (GO) - Cellular Components for PCBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 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:0006729 tetrahydrobiopterin biosynthetic process IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0045893 positive regulation of transcription, DNA-templated IEA --
GO:0051289 protein homotetramerization IEA --
GO:0051291 protein heterooligomerization 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrahydrobiopterin Approved, Investigational Pharma 0
dihydrobiopterin Experimental Pharma Target 0

(12) 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
  • 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
  • 4a-Hydroxy-5,6,7,8-tetrahydrobiopterin
70110-58-6
4a-Carbinolamine tetrahydrobiopterin
  • 1,3,5-Benzenetriol
  • 1,3,5-Trihydroxybenzene
  • 1,3,5-Trihydroxybenzene anhydrate
  • 1,3,5-Trihydroxybenzene anhydrous
  • 1,3,5-Trihydroxybenzene dihydrate
79647-29-3
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PCBD1: view

Transcripts for PCBD1 Gene

Unigene Clusters for PCBD1 Gene

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

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 (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, PaxDb, MOPED, and MaxQB for PCBD1 Gene



SOURCE GeneReport for Unigene cluster for PCBD1 Gene Hs.3192

genes like me logo Genes that share expression patterns with PCBD1: view

Protein tissue co-expression partners for PCBD1 Gene

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia PCBD1 35
  • 99.04 (n)
  • 100 (a)
PCBD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcbd1 35
  • 91.03 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia PCBD1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCBD1 36
  • 86 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia pcbd1 35
  • 77.56 (n)
  • 87.5 (a)
Str.6116 35
African clawed frog
(Xenopus laevis)
Amphibia LOC397951 35
zebrafish
(Danio rerio)
Actinopterygii pcbd1 35
  • 72.28 (n)
  • 72.28 (a)
zgc73389 35
pcbd1 36
  • 72 (a)
OneToOne
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

(1) 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
VAR_005527 -
VAR_005528 Hyperphenylalaninemia, BH4-deficient, D (HPABH4D)
rs115117837 Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) 70,884,002(+) TGTCC(C/T)GTTCT intron-variant, reference, missense
VAR_005530 Hyperphenylalaninemia, BH4-deficient, D (HPABH4D)
rs9712 -- 70,883,914(-) GGGAA(A/C/G/T)GGGTG intron-variant, utr-variant-3-prime

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)

Relevant External Links for PCBD1 Gene

Human Gene Mutation Database (HGMD)
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

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hyperphenylalaninemia, bh4-deficient, d
  • bh4-deficient hyperphenylalaninemia d
ciliary dyskinesia, primary, 3, with or without situs inversus
  • ciliary dyskinesia, primary, 3
hyperphenylalaninemia due to dehydratase deficiency
  • hyperphenylalaninemia, bh4-deficient, d
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
hyperphenylalaninemia
  • hpa
- 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.

Relevant External Links for PCBD1

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

No data available for Genatlas for PCBD1 Gene

Publications for PCBD1 Gene

  1. 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. (Hum. Mutat. 2001) 3 23 48 67
  2. 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
  3. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID: 19491146) Clot F. … Brice A. (Brain 2009) 3 23
  4. In situ and in vitro evidence for DCoH/HNF-1 alpha transcription of tyrosinase in human skin melanocytes. (PMID: 12565907) Schallreuter K.U. … Wood J.M. (Biochem. Biophys. Res. Commun. 2003) 3 23
  5. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. (PMID: 11937441) Dhondt J.L. … Hayte J.M. (Ann. Biol. Clin. (Paris) 2002) 3 23

Products for PCBD1 Gene

Sources for PCBD1 Gene

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