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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PCBD1 Gene

protein-coding   GIFtS: 63
GCID: GC10M072642

Pterin-4 Alpha-Carbinolamine Dehydratase/Dimerization Cofactor...

(Previous names: 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor...)
(Previous symbols: DCOH, PCBD)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Pterin-4 Alpha-Carbinolamine Dehydratase/Dimerization Cofactor Of
Hepatocyte Nuclear Factor 1 Alpha1 2
     PHS2 3
DCOH1 2 3 5     EC 4.2.1.963 8
PCBD1 2 3 5     Pterin-4 Alpha-Carbinolamine Dehydratase/Dimerization Cofactor Of
Hepatocyte Nuclear Factor 1 Alpha (TCF1)1
6-Pyruvoyl-Tetrahydropterin Synthase/Dimerization Cofactor Of Hepatocyte
Nuclear Factor 1 Alpha (TCF1)1 2
     Pterin-4-Alpha Carbinolamine Dehydratase1
Dimerizing Cofactor For HNF11 2     Pterin-4a-Carbinolamine Dehydratase (Dimerization Cofactor Of Hepatic
Nuclear Factor 1-Alpha)1
Dimerization Cofactor Of HNF12 3     Pterin-4-Alpha-Carbinolamine Dehydratase2
Phenylalanine Hydroxylase-Stimulating Protein2 3     DCoH3
4-Alpha-Hydroxy-Tetrahydropterin Dehydratase2 3     Dimerization Cofactor Of Hepatocyte Nuclear Factor 1-Alpha3
PCD2 3     Pterin Carbinolamine Dehydratase3

External Ids:    HGNC: 86461   Entrez Gene: 50922   Ensembl: ENSG000001662287   OMIM: 1260905   UniProtKB: P614573   

Export aliases for PCBD1 gene to outside databases

Previous GC identifers: GC10M072314 GC10M066637


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PCBD1 Gene:
This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A
deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the
transcription factor hepatocyte nuclear factor 1 (HNF1). (provided by RefSeq, Jul 2008)

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 due to dehydratase deficiency, and hyperphenylalaninemia, and among its related super-pathways are tyrosine degradation I and Metabolic pathways. GO annotations related to this gene include phenylalanine 4-monooxygenase activity and identical protein binding. An important paralog of this gene is PCBD2.

UniProtKB/Swiss-Prot: PHS_HUMAN, P61457
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

Gene Wiki entry for PCBD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PCBD1 gene promoter:
         HOXA9B   HOXA9   STAT1   STAT1beta   MyoD   STAT1alpha   Evi-1   c-Myb   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCBD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PCBD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCBD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M072642:  view genomic region     (about GC identifiers)

Start:
72,642,037 bp from pter      End:
72,648,541 bp from pter
Size:
6,505 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PHS_HUMAN, P61457 (See protein sequence)
Recommended Name: Pterin-4-alpha-carbinolamine dehydratase  
Size: 104 amino acids; 12000 Da
Subunit: Homotetramer and homodimer. Heterotetramer with HNF1A; formed by a dimer of dimers (By similarity)
Subcellular location: Cytoplasm. Nucleus. Note=Cytoplasmic and/or nuclear
Secondary accessions: P70519 P80095 Q9D930

Explore the universe of human proteins at neXtProt for PCBD1: NX_P61457

Explore proteomics data for PCBD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P61457

  • 4 DME Specific Peptides for PCBD1 (P61457)
     HHPEWFN  AFGFMTR  QLLPNLRAVGW  GLSERDINLASFIEQ 

    PCBD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PCBD1 Protein Expression
    REFSEQ proteins: NP_000272.1  
    ENSEMBL proteins: 
     ENSP00000299299  
    Reactome Protein details: P61457
    Human Recombinant Protein Products for PCBD1: 
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    ProSpec Recombinant Protein for PCBD1
    Cloud-Clone Corp. Proteins for PCBD1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    PCBD1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001533 Trans/pterin_deHydtase

    Graphical View of Domain Structure for InterPro Entry P61457

    ProtoNet protein and cluster: P61457

    UniProtKB/Swiss-Prot: PHS_HUMAN, P61457
    Similarity: Belongs to the pterin-4-alpha-carbinolamine dehydratase family


    PCBD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHS_HUMAN, P61457
    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
    Catalytic activity: (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 Number (IUBMB): EC 4.2.1.961 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IEA--
    GO:0004505phenylalanine 4-monooxygenase activity IEA--
    GO:0005515protein binding IPI--
    GO:00081244-alpha-hydroxytetrahydrobiopterin dehydratase activity EXP--
    GO:0042802identical protein binding IPI16189514
         
    PCBD1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pcbd1):
     homeostasis/metabolism  integument  pigmentation  renal/urinary system  vision/eye 

    PCBD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pcbd1tm1Grc for PCBD1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PCBD1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PCBD1

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    hsa-miR-607 hsa-miR-4263
    SwitchGear 3'UTR luciferase reporter plasmidPCBD1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCBD1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PCBD1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1tyrosine degradation I
    Phenylalanine and tyrosine catabolism0.56
    2Metabolism
    Metabolism0.40
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for PCBD1
        Phenylalanine and tyrosine catabolism
    Metabolism
    Metabolism of amino acids and derivatives



    PCBD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PCBD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/111 Interacting proteins for PCBD1 (P614571, 2, 3 ENSP000002992994) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FXR2P511162, 3, ENSP000002501134MINT-66448 I2D: score=5 STRING: ENSP00000250113
    LNX1Q8TBB12, 3, ENSP000002639254MINT-67195 I2D: score=5 STRING: ENSP00000263925
    ACIN1Q9UKV31, 3EBI-740475,EBI-396258 I2D: score=1 
    APPP050671, 3EBI-740475,EBI-77613 I2D: score=1 
    PCBD1P614571, 2EBI-740475,EBI-740475 MINT-66136
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006559L-phenylalanine catabolic process TAS--
    GO:0006729tetrahydrobiopterin biosynthetic process IEA--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0043496regulation of protein homodimerization activity IEA--

    PCBD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PCBD1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PCBD1 (PHS)

    6 HMDB Compounds for PCBD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-27545485
    (6R)-6-(L-Erythro-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterinhydroxypterin ----
    4a-Hydroxytetrahydrobiopterin2-amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one (see all 7)70110-58-6--
    Dihydrobiopterin(S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)6779-87-9--
    O2'-4a-cyclic-tetrahydrobiopterin4a-cyclic-tetrahydrobiopterin;4a-Cyc-BH(,4) ----
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for PCBD1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    7,8-Dihydrobiopterin7,8-Dihydro-L-Biopterin (see all 8)6779-87-9target--17139284 17016423 10592235

    10/14 Novoseek inferred chemical compound relationships for PCBD1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pcbd 95.5 15 9585615 (4), 9760199 (3), 11668623 (2), 7763270 (1) (see all 5)
    7-biopterin 93.7 3 9585615 (2)
    4a-hydroxytetrahydrobiopterin 92.5 2 10924272 (1), 18644344 (1)
    dihydropteridine 87.7 7 12003346 (1), 8830181 (1), 10727395 (1), 14766237 (1) (see all 5)
    6-pyruvoyltetrahydropterin 87.5 6 8188266 (2), 12003346 (1), 11937441 (1), 16917893 (1)
    tetrahydrobiopterin 83 8 7744010 (1), 8819618 (1), 8995521 (1), 9585615 (1) (see all 5)
    pterin 76.6 3 1355046 (1), 8897596 (1)
    sepiapterin 75.1 3 12003346 (1), 16917893 (1)
    dihydrobiopterin 69 1 8921004 (1)
    phenylalanine 67 9 16935936 (1), 8001680 (1), 8444860 (1), 9585615 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about PCBD1 / PHS

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PCBD1 gene: 
    NM_000281.2  

    Unigene Cluster for PCBD1:

    Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
    Hs.3192  [show with all ESTs]
    Unigene Representative Sequence: BM550965
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493961 ENST00000299299(uc001jrn.1) ENST00000493228

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    Additional mRNA sequence: 

    AF082858.1 BC006324.2 CR542194.1 L41559.1 M83742.1 

    6 DOTS entries:

    DT.117204  DT.102823536  DT.91734489  DT.91951716  DT.95169290  DT.117205 

    24/201 AceView cDNA sequences (see all 201):

    AI700558 BQ685433 AA385951 BM708761 BU790107 AA315438 BQ689225 BQ883583 
    BQ000870 BQ007447 BQ690044 BQ690003 BU158051 BQ689394 BQ686614 BQ685837 
    BQ013900 BM801718 NM_000281 BQ690175 AI350165 BQ778134 BQ687124 BQ689539 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PCBD1 expression in normal human tissues (normalized intensities)      PCBD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTTTATG
    PCBD1 Expression
    About this image


    PCBD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
             Thalamus
             Septum   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             visceral organ/metanephros/calyx   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ/metanephros/calyx   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

    See PCBD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PCBD1

    SOURCE GeneReport for Unigene cluster: Hs.3192
        SABiosciences Custom PCR Arrays for PCBD1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCBD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PCBD1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcbd11 , 5 pterin 4 alpha carbinolamine dehydratase/dimerization more1, 5 90.71(n)1
    99.04(a)1
      10 (32.14 cM)5
    131801  NM_025273.31  NP_079549.11 
     610893435 
    chicken
    (Gallus gallus)
    Aves PCBD11 pterin-4 alpha-carbinolamine dehydratase/dimerization more 81.09(n)
    92.31(a)
      395729  NM_204905.1  NP_990236.1 
    lizard
    (Anolis carolinensis)
    Reptilia PCBD16
    Uncharacterized protein
    89(a)
    1 ↔ 1
    3(50326988-50341902)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3979512 XDCoH 77.02(n)    Z37525.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc733892 hypothetical protein MGC73389 75.25(n)   393787  BC059694.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pcd1 pterin-4a-carbinolamine dehydratase 63.12(n)
    60.64(a)
      43499  NM_058012.3  NP_477360.2 
    worm
    (Caenorhabditis elegans)
    Secernentea pcbd-16
    Putative pterin-4-alpha-carbinolamine dehydratase
    44(a)
    1 → many
    I(6951135-6951973)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCBD1 gene
    PCBD22  
    1 SIMAP similar gene for PCBD1 using alignment to 2 protein entries:     PHS_HUMAN (see all proteins):
    PCBD2

    PCBD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/139 SNPs in PCBD1 are shown (see all 139)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0055284
    Hyperphenylalaninemia, BH4-deficient, D (HPABH4D)4--see VAR_0055282 C R mis40--------
    VAR_0055304
    Hyperphenylalaninemia, BH4-deficient, D (HPABH4D)4--see VAR_0055302 E K mis40--------
    rs1151178371,2,4
    C,FHyperphenylalaninemia, BH4-deficient, D (HPABH4D)4 --73017579(+) TGTCCC/TGTTCT 2 Q R mis12Minor allele frequency- T:0.00WA NA 4762
    rs1219130151,2
    Cpathogenic173017550(-) TCGAAC/TAAGTA 2 Q * stg11Minor allele frequency- T:0.00NA 4548
    rs1048941721,2
    Cpathogenic173017583(-) TTTCAG/TAACGG 2 E * stg11Minor allele frequency- T:0.00EU 1309
    rs1048941771,2
    Cpathogenic173017598(-) ATGAGC/TGTGCC 2 R C mis10--------
    VAR_0055274
    ----see VAR_0055272 T I mis40--------
    rs57860131,2
    C--66636970(+) TTAATC/-ACTTG 1 -- ds50012Minor allele frequency- -:0.25NA CSA 4
    rs1438268441,2
    C--66636970(+) TTAATA/C/TACTTG 1 -- ds50010--------
    rs569041071,2
    C--66643079(+) AGTACGT/-ATGTT 1 -- us2k11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for PCBD1 (72642037 - 72648541 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PCBD1: --

    Human Gene Mutation Database (HGMD): PCBD1

    Locus Specific Mutation Databases (LSDB): PCBD1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PCBD1
    DNA2.0 Custom Variant and Variant Library Synthesis for PCBD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 126090   
    OMIM disorders: 264070  
    UniProtKB/Swiss-Prot: PHS_HUMAN, P61457
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 20 diseases for PCBD1:    About MalaCards
    hyperphenylalaninemia due to dehydratase deficiency    hyperphenylalaninemia    mild hyperphenylalaninemia    retrograde amnesia
    vitiligo    tetrahydrobiopterin deficiency    dopa-responsive dystonia    phenylketonuria
    maturity-onset diabetes of the young    glucose intolerance    insulin resistance    diabetes mellitus
    type 1 diabetes    obesity    colon cancer    breast cancer
    alzheimer's disease    colorectal cancer    pancreatitis    hepatitis

    3 diseases from the University of Copenhagen DISEASES database for PCBD1:
    maturity-onset diabetes of the young     Vitiligo     Phenylketonuria

    PCBD1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/11 Novoseek inferred disease relationships for PCBD1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperphenylalaninemia 89 5 8819618 (1), 9760199 (1), 9585615 (1), 1405480 (1)
    vitiligo 57.8 3 16935936 (1), 14530988 (1)
    niddm 55.6 9 10852449 (1), 10084598 (1), 15660263 (1), 10696112 (1) (see all 7)
    phenylketonurias 35.6 1 16935936 (1)
    insulin sensitivity 18.6 1 10601964 (1)
    endometrial cancer 17.6 2 10411295 (1), 12648521 (1)
    insulin resistance 4.43 1 10852449 (1)
    breast cancer 0 8 17390025 (3), 18202773 (2), 12648521 (1)
    tumors 0 1 18202773 (1)
    carcinoma 0 2 17532541 (1), 12224027 (1)

    Genetic Association Database (GAD): PCBD1
    Human Genome Epidemiology (HuGE) Navigator: PCBD1 (5 documents)

    Export disorders for PCBD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PCBD1 gene, integrated from 9 sources (see all 111):
    (articles sorted by number of sources associating them with PCBD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 11668623)1, 4, 9 Ek J....Pedersen O. (2001)
    2. Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. (PubMed id 9760199)1, 2, 9 Thoeny B.... Blau N. (1998)
    3. Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha. (PubMed id 7763270)1, 2, 9 Thoeny B.... Heizmann C.W. (1995)
    4. Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1. (PubMed id 10098606)1, 2, 9 Lei X.D. and Kaufman S. (1999)
    5. Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10. (PubMed id 8486378)1, 3, 9 Milatovich A....Francke U. (1993)
    6. Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. (PubMed id 1763325)1, 2, 9 Mendel D.B.... Crabtree G.R. (1991)
    7. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PubMed id 19491146)1, 4, 9 Clot F....Brice A. (2009)
    8. Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha- carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence. (PubMed id 8444860)1, 2, 9 Hauer C.R.... Heizmann C.W. (1993)
    9. Use of genome-wide expression data to mine the ' Gray Zone' of GWA studies leads to novel candidate obesity genes. (PubMed id 20532202)1, 4 Naukkarinen J....Peltonen L. (2010)
    10. Examination of tetrahydrobiopterin pathway genes in a utism. (PubMed id 19674121)1, 4 Schnetz-Boutaud N.C....Haines J.L. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5092 HGNC: 8646 AceView: PCBD Ensembl:ENSG00000166228 euGenes: HUgn5092
    ECgene: PCBD1 H-InvDB: PCBD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PCBD1 Pharmacogenomics, SNPs, Pathways
    BIOMDBhttp://www.bh4.org/biodef1.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCBD1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PCBD1 gene:
    Search GeneIP for patents involving PCBD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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