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

PCBD1 Gene

protein-coding   GIFtS: 62
GCID: GC10M072642

pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor...

(Previous names: 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor...)
(Previous symbols: DCOH, PCBD)
 Explore 21 diseases affiliated with
PCBD1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PCBD1    

Aliases
for PCBD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
PCD1 2 3     Dimerizing Cofactor For HNF12
6-Pyruvoyl-Tetrahydropterin Synthase/Dimerization Cofactor Of Hepatocyte
Nuclear Factor 1 Alpha (TCF1)1 2
     Pterin-4-Alpha-Carbinolamine Dehydratase2
Dimerization Cofactor Of HNF12 3     DCoH3
Phenylalanine Hydroxylase-Stimulating Protein2 3     Dimerization Cofactor Of Hepatocyte Nuclear Factor 1-Alpha3
4-Alpha-Hydroxy-Tetrahydropterin Dehydratase2 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


Summaries
for PCBD1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
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 plasmid: PCBD1 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

Proteins
for PCBD1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P61457

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

    PCBD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000272.1  
    ENSEMBL proteins: 
     ENSP00000299299  
    Reactome Protein details: P61457
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for PCBD1
    Uscn 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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    Uscn ELISAs and CLIAs for PCBD1

    Protein Domains /
    Families
    for PCBD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PCBD1 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for PCBD1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate PCBD1:
    hsa-miR-607 hsa-miR-4263
    SwitchGear 3'UTR luciferase reporter plasmid: PCBD1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PCBD1 (see all 6)
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for PCBD1

    In Situ Assay
    Products:       
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    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


    Animal Models:
         Mouse knock-out Pcbd1tm1Grc for PCBD1
         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


    Pathways & Interactions
    for PCBD1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    2Metabolism
    		Metabolism1.00
    3tyrosine degradation I
    		Phenylalanine and tyrosine catabolism0.56

    Pathway sources
    See GeneCards unified pathways
    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)

    5/110 Interacting proteins for PCBD1 (P614571, 2, 3 ENSP000002992994) via UniProtKB, MINT, STRING, and/or I2D (see all 110)
    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



    Drugs & Compounds
    for PCBD1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PCBD1

    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 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 

    Transcripts
    for PCBD1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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

    miRNA
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    hsa-miR-607 hsa-miR-4263
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    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    BQ778134 BQ689225 BM801718 BQ690175 BU146038 AA315438 AI700558 BQ883583 
    BQ688746 BC006324 BQ007447 BQ685601 BQ690003 AI350165 BQ686614 AA984002 
    BQ690128 BF477895 AA385951 BU727913 BQ690028 NM_000281 BQ689539 NM_001001939 

    GeneLoc Exon Structure


    Expression
    for PCBD1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTTTTATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PCBD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeVisceral White AdipocytesAdipose
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    AdiposeVisceral White AdiposeAdipose
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.3192
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCBD1

    Orthologs
    for PCBD1 gene

    (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 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 88(a)
    		 1 ↔ 1
    		 3(50339316-50341867)
    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)
    		 possible ortholog
    		 I(6951134-6951972)


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

    Paralogs
    for PCBD1 gene

    (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



    Genomic Variants
    for PCBD1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/115 NCBI SNPs in PCBD1 are shown (see all 115)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219130151,2
    		Cpathogenic66637732(-) TCGAAC/TAAGTA 2 Q * stg11Minor allele frequency- T:0.00NA 4548
    rs1048941721,2
    		Cpathogenic66637765(-) TTTCAG/TAACGG 2 E * stg11Minor allele frequency- T:0.00EU 1309
    rs1048941771,2
    		Cpathogenic66637780(-) ATGAGC/TGTGCC 2 R C mis10--------
    rs109995721,2
    		H--66636888(+) TCTCAG/ACCATC 1 -- ds50014Minor allele frequency- A:0.00NS EA 418
    rs748582571,2
    		C,--66636969(+) ATTAA-/CWMCTT 1 -- ds50010--------
    rs169280521,2
    		C,F,H,,--66636980(+) GCGTTC/TCCTTT 1 -- ds500116Minor allele frequency- T:0.07NA NS EA WA 1796
    rs779587931,2
    		--66637108(+) TATCCC/TCTAGA 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs770294001,2
    		--66637456(+) TTGCAA/TAGAAA 1 -- ut310--------
    rs125701831,2
    		C,A,H,--66638327(+) agctcT/Cgcctc 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1132884291,2
    		--66638335(+) CTCCCG/AGGTTC 1 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for PCBD1 (72642037 - 72648541 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PCBD1
    DNA2.0 Custom Variant and Variant Library Synthesis for PCBD1

    Disorders / Diseases
    for PCBD1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PCBD1 for disorders           About GeneDecksing

    OMIM gene information: 126090   
    OMIM disorders: 264070  
    UniProtKB/Swiss-Prot: PHS_HUMAN, P61457
  • Defects in PCBD1 are the cause of BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]; also
    • known as hyperphenylalaninemia with primapterinuria. HPABH4D is characterized by the excretion of 7-substituted
    pterins in the urine of affected patients

    20/21 diseases for PCBD1 (see all 21):    About MalaCards
    hyperphenylalaninemia    dopa-responsive dystonia    maturity-onset diabetes of the young    retrograde amnesia
    type 2 diabetes mellitus    tetrahydrobiopterin deficiency    glucose intolerance    insulin resistance
    phenylketonuria    diabetes mellitus    vitiligo    endometrial cancer
    breast cancer    liver cancer    polyposis    alzheimer's disease
    colon cancer    colorectal cancer    obesity    pancreatitis

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

    10/11 Novoseek 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

    Publications
    for PCBD1 gene

    (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 108):
    (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. 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)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. (PubMed id 8352282)1, 2 Citron B.A....Davis M.D. (1993)
    10. 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). (PubMed id 9585615)1, 9 Thony B....Blau N. (1998)

    External Searches for PCBD1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing PCBD1 gene

    (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

    Other Databases showing PCBD1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PCBD1 gene

    (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

    Intellectual Property
    for PCBD1 gene

    (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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