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Summary Expression Gene Literature (28) GO Terms (5) Nucleotides (279) Proteins (33) Interactants (313) Wiki
XB-GENEPAGE-975698
Gene Symbol:
pcbd1

Gene Name:
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha

Synonyms:
dcoh , Xdcoh , pcbd , pcd , phs ( Add synonyms , Nomenclature history )

Gene Function:
Pterin carbinolamine dehydratase PCBD/dimerization cofactor of HNF1

Protein 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 th...[+]


InterPro :
WH-like DNA-bd sf , FAD/NAD-bd sf , Hist Lys-spec deMease , Amino oxidase [+]

Interactants:
Loading ...

Diseases: 


Disease Ontology:
diabetes mellitus

OMIM:
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D

External Links:
1/2
 
Xenbase Gene ID XB-GENE-975699 XB-GENE-6252156 XB-GENE-17331419
Gene Symbol pcbd1 pcbd1.L pcbd1.S
Chromosome Chr07 chr7L Scaffold19
Molecules tropicalis laevis.L laevis.S
Genomic Sequence Version 9.1 Version 9.2 Version 9.2
CDS Gene model Gene model Gene model
Entrez Gene 496425
496367
397951
mRNA RefSeq RefSeq RefSeq
Protein RefSeq RefSeq RefSeq
Genomic
 tropicalis laevis.L laevis.S
Genome Browser
(Click image to open in Genome Browser)
Genomic Synteny Genomicus PANTHER
Expression                  Development Stages    Embryonic TissuesAdult Tissues
Summary for
More Information
Xenbase Expression Details In situ images Single cell data at SPRING Ensembl In situ: Single cell: RNA-Seq:
Proteomics tropicalis laevis.L laevis.S
Embryonic Protein Expression Stage profile:
Data Mining tropicalis laevis.L laevis.S
XenMine pcbd1 pcbd1.L pcbd1.S
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
human
HGNC AGR, OMIM:Gene, GeneCards PCBD1 OMIM Ensembl, Allen Brain Atlas, Protein Atlas
mouse
MGI, AGR Pcbd1 MGI, IMPC Ensembl, Allen Brain Atlas, Eurexpress, MGI
rat
RGD, AGR Pcbd1 Ensembl
zebrafish
ZFIN, AGR pcbd1 ZFIN Ensembl
chicken
GEISHA PCBD1 Ensembl
fruit fly
worm
Publications
First Isolation and characterization of a mouse cDNA clone that expresses mast-cell growth-factor activity in monkey cells., Proc Natl Acad Sci U S A 1984  
Most Recent Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia., Cells 2019      
All View All Papers 3 paper(s) referencing morpholinos 2 paper(s) referencing OMIMs 5 paper(s) referencing Disease Ontology
Functional Ontologies tropicalis laevis.L laevis.S
GO 3 terms 2 terms 4 terms
PANTHER pcbd1
KEGG Pathways K01724 K01724
KOG [K] Pterin carbinolamine dehydratase PCBD/dimerization cofactor of HNF1
Reagents tropicalis laevis.L laevis.S
CRISPRscan Tracks pcbd1
Morpholinos pcbd1 MO1 pcbd1 MO1 pcbd1 MO1
ORFs pcbd1 ORF1 LOC496367 ORF1 pcbd1.L ORF1
Clones Horizon Source BioScience Horizon Source BioScience Horizon

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