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Pcbd1 Gene Detail
Summary
  • Symbol
    Pcbd1
  • Name
    pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1
  • Synonyms
    Dcoh, Pcbd
  • Feature Type
    protein coding gene
  • IDs
    MGI:94873
    NCBI Gene: 13180
  • Gene Overview
    MyGene.info: PCBD1
Location & Maps
more
  • Sequence Map
    Chr10:61089343-61094328 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4986 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 32.14 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    PCBD1, pterin-4 alpha-carbinolamine dehydratase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PCBD1, pterin-4 alpha-carbinolamine dehydratase 1
    Orthology source: HomoloGene
  • Synonyms
    DCOH, PCBD, PCD, PHS
  • Links
    NCBI Gene ID: 5092
    neXtProt AC: NX_P61457

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

Human Diseases
more
  • Diseases
    1 with human PCBD1 associations

Human Disease Mouse Models
       Hyperphenylalaninemia, Bh4-Deficient, D; HPABH4D   OMIM: 264070
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    1 images
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Pcbd1
  • Incidental Mutations
    APF
Homozygous mutant mice display hyperphenylalaninemia, are mildly glucose intolerant, and are predisposed to cataract formation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    62 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000012333 pterin-4-alpha-carbinolamine dehydratase
  • EC
  • InterPro Domains
    IPR001533 Transcriptional coactivator/pterin dehydratase
Molecular
Reagents
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  • All nucleic 41
    cDNA 41

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-8812
References
more
  • Summaries
    All 36
    Developmental Gene Expression 6
    Gene Ontology 5
    Phenotypes 11
  • 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

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
05/24/2016
MGI 6.04
The Jackson Laboratory