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Pcbd1
Gene Detail
Symbol

Name
ID
Pcbd1
pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1
MGI:94873
Synonyms
Dcoh, Pcbd
Feature Type
protein coding gene
Genetic Map
Chromosome 10
32.14 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr10:61089343-61094328 bp, + strand
From Ensembl annotation of GRCm38

  4986 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:57028  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PCBD1
Protein SuperFamily: 4a-hydroxytetrahydrobiopterin dehydratase
Gene Tree: Pcbd1

Human
homologs
PCBD1, pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5092
neXtProt AC: NX_P61457

Human Synonyms: DCOH, PCBD, PCD, PHS

Human Chr (Location): 10q22; chr10:70882280-70888786 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PCBD1

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from APF )
 
Homozygous mutant mice display hyperphenylalaninemia, are mildly glucose intolerant, and are predisposed to cataract formation.
 
Phenotype Images(1)
Interactions
Pcbd1 interacts with 78 markers (Mir19a, Mir19b-1, Mir19b-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (6 records)
Data Summary: Results (114)    Tissues (35)    Images (28)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 114
cDNA source data(41)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase pcbd1 ; ZFIN pcbd1    NEW 
Molecular
reagents
All nucleic(41) cDNA(41)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000020098 (Evidence)
Entrez Gene 13180 (Evidence)
UniGene 39473
DFCI TC1579743, TC1775337
DoTS DT.101373466, DT.533721, DT.99661322, DT.99661332
NIA Mouse Gene Index U011560
EC 4.2.1.96
Consensus CDS Project CCDS35913.1
International Mouse Phenotyping Consortium Status Pcbd1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000020098 Ensembl Gene Model | MGI Sequence Detail 4986 C57BL/6J ±  kb
transcript ENSMUST00000020298 Ensembl | MGI Sequence Detail 809 Not Applicable 
polypeptide ENSMUSP00000020298 Ensembl | MGI Sequence Detail 104 Not Applicable 

For the selected sequences
All sequences(22) RefSeq(2) UniProt(1)
Polymorphisms
RFLP(1) : SNPs within 2kb(62 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001533 Transcriptional coactivator/pterin dehydratase
Protein Ontology PR:000012333 pterin-4-alpha-carbinolamine dehydratase
References
(Earliest) J:32276 Mendel DB, et al., Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. Science. 1991 Dec 20;254(5039):1762-7
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(39)
Other
accession IDs
MGD-MRK-8812

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory