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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

Protein SuperFamily: 4a-hydroxytetrahydrobiopterin dehydratase
Gene Tree: Pcbd1

Human
homologs
Human Homolog PCBD1, pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
NCBI Gene ID 5092
neXtProt AC  NX_P61457
Human Synonyms  DCOH, PCBD, PCD, PHS
Human Chr (Location)  10q22; chr10:70882280-70888784 (-)  GRCh38
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)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(41) cDNA(41)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000020098 (Evidence)
Entrez Gene13180 (Evidence)
UniGene39473
DFCITC1579743, TC1775337
DoTSDT.101373466, DT.533721, DT.99661322, DT.99661332
NIA Mouse Gene IndexU011560
EC4.2.1.96
Consensus CDS ProjectCCDS35913.1
International Mouse Knockout Project StatusPcbd1
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(40)
Other
accession IDs
MGD-MRK-8812

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/11/2014
MGI 5.20
The Jackson Laboratory