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PCBD1 (pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha)

Identity

Alias_namesDCOH
PCBD
6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Alias_symbol (synonym)PCD
Other aliasPHS
HGNC (Hugo) PCBD1
LocusID (NCBI) 5092
Atlas_Id 71688
Location 10q22.1  [Link to chromosome band 10q22]
Location_base_pair Starts at 72643265 and ends at 72648543 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PCBD1   8646
Cards
Entrez_Gene (NCBI)PCBD1  5092  pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
AliasesDCOH; PCBD; PCD; PHS
GeneCards (Weizmann)PCBD1
Ensembl hg19 (Hinxton)ENSG00000166228 [Gene_View]  chr10:72643265-72648543 [Contig_View]  PCBD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166228 [Gene_View]  chr10:72643265-72648543 [Contig_View]  PCBD1 [Vega]
ICGC DataPortalENSG00000166228
TCGA cBioPortalPCBD1
AceView (NCBI)PCBD1
Genatlas (Paris)PCBD1
WikiGenes5092
SOURCE (Princeton)PCBD1
Genetics Home Reference (NIH)PCBD1
Genomic and cartography
GoldenPath hg19 (UCSC)PCBD1  -     chr10:72643265-72648543 -  10q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PCBD1  -     10q22.1   [Description]    (hg38-Dec_2013)
EnsemblPCBD1 - 10q22.1 [CytoView hg19]  PCBD1 - 10q22.1 [CytoView hg38]
Mapping of homologs : NCBIPCBD1 [Mapview hg19]  PCBD1 [Mapview hg38]
OMIM126090   264070   
Gene and transcription
Genbank (Entrez)AA397961 AA736613 AF082858 BC006324 BI548743
RefSeq transcript (Entrez)NM_000281 NM_001289797
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_008646 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)PCBD1
Cluster EST : UnigeneHs.3192 [ NCBI ]
CGAP (NCI)Hs.3192
Alternative Splicing GalleryENSG00000166228
Gene ExpressionPCBD1 [ NCBI-GEO ]   PCBD1 [ EBI - ARRAY_EXPRESS ]   PCBD1 [ SEEK ]   PCBD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PCBD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5092
GTEX Portal (Tissue expression)PCBD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP61457   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP61457  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP61457
Splice isoforms : SwissVarP61457
Catalytic activity : Enzyme4.2.1.96 [ Enzyme-Expasy ]   4.2.1.964.2.1.96 [ IntEnz-EBI ]   4.2.1.96 [ BRENDA ]   4.2.1.96 [ KEGG ]   
PhosPhoSitePlusP61457
Domains : Interpro (EBI)Trans/pterin_deHydtase   
Domain families : Pfam (Sanger)Pterin_4a (PF01329)   
Domain families : Pfam (NCBI)pfam01329   
Conserved Domain (NCBI)PCBD1
DMDM Disease mutations5092
Blocks (Seattle)PCBD1
SuperfamilyP61457
Human Protein AtlasENSG00000166228
Peptide AtlasP61457
HPRD00523
IPIIPI00218568   
Protein Interaction databases
DIP (DOE-UCLA)P61457
IntAct (EBI)P61457
FunCoupENSG00000166228
BioGRIDPCBD1
STRING (EMBL)PCBD1
ZODIACPCBD1
Ontologies - Pathways
QuickGOP61457
Ontology : AmiGOtranscription coactivator activity  phenylalanine 4-monooxygenase activity  protein binding  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  L-phenylalanine catabolic process  tetrahydrobiopterin biosynthetic process  4-alpha-hydroxytetrahydrobiopterin dehydratase activity  cellular nitrogen compound metabolic process  identical protein binding  regulation of protein homodimerization activity  small molecule metabolic process  positive regulation of transcription, DNA-templated  protein homotetramerization  protein heterooligomerization  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBItranscription coactivator activity  phenylalanine 4-monooxygenase activity  protein binding  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  L-phenylalanine catabolic process  tetrahydrobiopterin biosynthetic process  4-alpha-hydroxytetrahydrobiopterin dehydratase activity  cellular nitrogen compound metabolic process  identical protein binding  regulation of protein homodimerization activity  small molecule metabolic process  positive regulation of transcription, DNA-templated  protein homotetramerization  protein heterooligomerization  oxidation-reduction process  extracellular exosome  
NDEx NetworkPCBD1
Atlas of Cancer Signalling NetworkPCBD1
Wikipedia pathwaysPCBD1
Orthology - Evolution
OrthoDB5092
GeneTree (enSembl)ENSG00000166228
Phylogenetic Trees/Animal Genes : TreeFamPCBD1
HOVERGENP61457
HOGENOMP61457
Homologs : HomoloGenePCBD1
Homology/Alignments : Family Browser (UCSC)PCBD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCBD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCBD1
dbVarPCBD1
ClinVarPCBD1
1000_GenomesPCBD1 
Exome Variant ServerPCBD1
ExAC (Exome Aggregation Consortium)PCBD1 (select the gene name)
Genetic variants : HAPMAP5092
Genomic Variants (DGV)PCBD1 [DGVbeta]
DECIPHER (Syndromes)10:72643265-72648543  ENSG00000166228
CONAN: Copy Number AnalysisPCBD1 
Mutations
ICGC Data PortalPCBD1 
TCGA Data PortalPCBD1 
Broad Tumor PortalPCBD1
OASIS PortalPCBD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCBD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCBD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PCBD1
DgiDB (Drug Gene Interaction Database)PCBD1
DoCM (Curated mutations)PCBD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCBD1 (select a term)
intoGenPCBD1
Cancer3DPCBD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM126090    264070   
Orphanet3391   
MedgenPCBD1
Genetic Testing Registry PCBD1
NextProtP61457 [Medical]
TSGene5092
GENETestsPCBD1
Huge Navigator PCBD1 [HugePedia]
snp3D : Map Gene to Disease5092
BioCentury BCIQPCBD1
ClinGenPCBD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5092
Chemical/Pharm GKB GenePA32985
Clinical trialPCBD1
Miscellaneous
canSAR (ICR)PCBD1 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCBD1
EVEXPCBD1
GoPubMedPCBD1
iHOPPCBD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:37:52 CET 2017

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