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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:60925110-60930103 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 10, 32.14 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    61 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_94873
protein coding gene Chr10:60925110-60930108 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017273
protein coding gene Chr10:60386224-60392676 (+)
A/J MGP_AJ_G0017251
protein coding gene Chr10:58599161-58604146 (+)
AKR/J MGP_AKRJ_G0017211
protein coding gene Chr10:60121491-60126476 (+)
BALB/cJ MGP_BALBcJ_G0017211
protein coding gene Chr10:58667021-58672006 (+)
C3H/HeJ MGP_C3HHeJ_G0017034
protein coding gene Chr10:60030001-60034986 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017669
protein coding gene Chr10:62522694-62529115 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015360
protein coding gene Chr10:55577013-55582066 (+)
CAST/EiJ MGP_CASTEiJ_G0016605
protein coding gene Chr10:60003455-60010524 (+)
CBA/J MGP_CBAJ_G0017006
protein coding gene Chr10:64842874-64847859 (+)
DBA/2J MGP_DBA2J_G0017111
protein coding gene Chr10:57874974-57879959 (+)
FVB/NJ MGP_FVBNJ_G0017105
protein coding gene Chr10:57130714-57135699 (+)
LP/J MGP_LPJ_G0017186
protein coding gene Chr10:60791216-60796201 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017133
protein coding gene Chr10:67216638-67221623 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017707
protein coding gene Chr10:59933365-59938350 (+)
PWK/PhJ MGP_PWKPhJ_G0016388
protein coding gene Chr10:57701321-57706466 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016171
protein coding gene Chr10:59271243-59277921 (+)
WSB/EiJ MGP_WSBEiJ_G0016669
protein coding gene Chr10:59858495-59863491 (+)



Homology
more
  • Human Ortholog
    PCBD1, pterin-4 alpha-carbinolamine dehydratase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCBD1, pterin-4 alpha-carbinolamine dehydratase 1
  • Synonyms
    DCOH, PCBD, PCD, PHS
  • Links
    NCBI Gene ID: 5092
    neXtProt AC: NX_P61457
    UniProt: P61457

  • Chr Location
    10q22.1; chr10:70882280-70888565 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with human PCBD1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • 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
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutant mice display hyperphenylalaninemia, are mildly glucose intolerant, and are predisposed to cataract formation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020098 Ensembl Gene Model | MGI Sequence Detail 4994 C57BL/6J ±  kb
    transcript ENSMUST00000020298 Ensembl | MGI Sequence Detail 789 Not Applicable  
    polypeptide ENSMUSP00000020298 Ensembl | MGI Sequence Detail 104 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      cDNA 42
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-8812
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 10
      Gene Ontology 7
      Phenotypes 11
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:248945 Abdellatif AM, et al., beta-Cell-Specific Mafk Overexpression Impairs Pancreatic Endocrine Cell Development. PLoS One. 2016;11(2):e0150010

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory