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PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1)

Identity

Alias (NCBI)DCOH
PCBD
PCD
PHS
HGNC (Hugo) PCBD1
HGNC Alias symbPCD
HGNC Alias namePterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)
 pterin-4-alpha carbinolamine dehydratase
 dimerizing cofactor for HNF1
HGNC Previous nameDCOH
 PCBD
HGNC Previous name6-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
LocusID (NCBI) 5092
Atlas_Id 71688
Location 10q22.1  [Link to chromosome band 10q22]
Location_base_pair Starts at 70882281 and ends at 70888565 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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    pterin-4 alpha-carbinolamine dehydratase 1
AliasesDCOH; PCBD; PCD; PHS
GeneCards (Weizmann)PCBD1
Ensembl hg19 (Hinxton)ENSG00000166228 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166228 [Gene_View]  ENSG00000166228 [Sequence]  chr10:70882281-70888565 [Contig_View]  PCBD1 [Vega]
ICGC DataPortalENSG00000166228
TCGA cBioPortalPCBD1
AceView (NCBI)PCBD1
Genatlas (Paris)PCBD1
SOURCE (Princeton)PCBD1
Genetics Home Reference (NIH)PCBD1
Genomic and cartography
GoldenPath hg38 (UCSC)PCBD1  -     chr10:70882281-70888565 -  10q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCBD1  -     10q22.1   [Description]    (hg19-Feb_2009)
GoldenPathPCBD1 - 10q22.1 [CytoView hg19]  PCBD1 - 10q22.1 [CytoView hg38]
ImmunoBaseENSG00000166228
Genome Data Viewer NCBIPCBD1 [Mapview hg19]  
OMIM126090   264070   
Gene and transcription
Genbank (Entrez)AA397961 AA736613 AF082858 BC006324 BI548743
RefSeq transcript (Entrez)NM_000281 NM_001289797 NM_001323004
Consensus coding sequences : CCDS (NCBI)PCBD1
Gene ExpressionPCBD1 [ NCBI-GEO ]   PCBD1 [ EBI - ARRAY_EXPRESS ]   PCBD1 [ SEEK ]   PCBD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PCBD1 [ Firebrowse - Broad ]
GenevisibleExpression of PCBD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5092
GTEX Portal (Tissue expression)PCBD1
Human Protein AtlasENSG00000166228-PCBD1 [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
PhosPhoSitePlusP61457
Domains : Interpro (EBI)PCD_sf    Pterin_deHydtase   
Domain families : Pfam (Sanger)Pterin_4a (PF01329)   
Domain families : Pfam (NCBI)pfam01329   
Conserved Domain (NCBI)PCBD1
SuperfamilyP61457
AlphaFold pdb e-kbP61457   
Human Protein Atlas [tissue]ENSG00000166228-PCBD1 [tissue]
HPRD00523
Protein Interaction databases
DIP (DOE-UCLA)P61457
IntAct (EBI)P61457
BioGRIDPCBD1
STRING (EMBL)PCBD1
ZODIACPCBD1
Ontologies - Pathways
QuickGOP61457
Ontology : AmiGOtranscription coactivator activity  phenylalanine 4-monooxygenase activity  protein binding  nucleoplasm  cytosol  cytosol  L-phenylalanine metabolic process  tetrahydrobiopterin biosynthetic process  4-alpha-hydroxytetrahydrobiopterin dehydratase activity  tyrosine biosynthetic process, by oxidation of phenylalanine  identical protein binding  regulation of protein binding  positive regulation of transcription, DNA-templated  extracellular exosome  
Ontology : EGO-EBItranscription coactivator activity  phenylalanine 4-monooxygenase activity  protein binding  nucleoplasm  cytosol  cytosol  L-phenylalanine metabolic process  tetrahydrobiopterin biosynthetic process  4-alpha-hydroxytetrahydrobiopterin dehydratase activity  tyrosine biosynthetic process, by oxidation of phenylalanine  identical protein binding  regulation of protein binding  positive regulation of transcription, DNA-templated  extracellular exosome  
NDEx NetworkPCBD1
Atlas of Cancer Signalling NetworkPCBD1
Wikipedia pathwaysPCBD1
Orthology - Evolution
OrthoDB5092
GeneTree (enSembl)ENSG00000166228
Phylogenetic Trees/Animal Genes : TreeFamPCBD1
Homologs : HomoloGenePCBD1
Homology/Alignments : Family Browser (UCSC)PCBD1
Gene fusions - Rearrangements
Fusion : QuiverPCBD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCBD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCBD1
dbVarPCBD1
ClinVarPCBD1
MonarchPCBD1
1000_GenomesPCBD1 
Exome Variant ServerPCBD1
GNOMAD BrowserENSG00000166228
Varsome BrowserPCBD1
ACMGPCBD1 variants
VarityP61457
Genomic Variants (DGV)PCBD1 [DGVbeta]
DECIPHERPCBD1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DPCBD1
Mutations and Diseases : HGMDPCBD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPCBD1
DgiDB (Drug Gene Interaction Database)PCBD1
DoCM (Curated mutations)PCBD1
CIViC (Clinical Interpretations of Variants in Cancer)PCBD1
Cancer3DPCBD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM126090    264070   
Orphanet3391   
DisGeNETPCBD1
MedgenPCBD1
Genetic Testing Registry PCBD1
NextProtP61457 [Medical]
GENETestsPCBD1
Target ValidationPCBD1
Huge Navigator PCBD1 [HugePedia]
ClinGenPCBD1
Clinical trials, drugs, therapy
MyCancerGenomePCBD1
Protein Interactions : CTDPCBD1
Pharm GKB GenePA32985
PharosP61457
Clinical trialPCBD1
Miscellaneous
canSAR (ICR)PCBD1
HarmonizomePCBD1
DataMed IndexPCBD1
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPCBD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:15:30 CEST 2021

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