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Mbd1 Gene Detail
Summary
  • Symbol
    Mbd1
  • Name
    methyl-CpG binding domain protein 1
  • Synonyms
    Cxxc3, PCM1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333811
    NCBI Gene: 17190
  • Gene Overview
    MyGene.info: MBD1
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:74267605-74282732 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 50.70 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    70 from dbSNP Build 142
  • Strain Annotations
    17
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333811
protein coding gene Chr18:74267605-74282734 (.)
129S1/SvImJ MGP_129S1SvImJ_G0024556
protein coding gene Chr18:74886062-74901071 (+)
A/J MGP_AJ_G0024523
protein coding gene Chr18:71626684-71641725 (+)
AKR/J MGP_AKRJ_G0024494
protein coding gene Chr18:73744277-73758739 (+)
BALB/cJ MGP_BALBcJ_G0024523
protein coding gene Chr18:71807453-71821980 (+)
C3H/HeJ MGP_C3HHeJ_G0024291
protein coding gene Chr18:73837905-73852345 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024969
protein coding gene Chr18:76854183-76868596 (+)
CAROLI/EiJ no annotation
CAST/EiJ MGP_CASTEiJ_G0023764
protein coding gene Chr18:74012569-74027546 (+)
CBA/J MGP_CBAJ_G0024260
protein coding gene Chr18:79479631-79494062 (+)
DBA/2J MGP_DBA2J_G0024390
protein coding gene Chr18:71230173-71244676 (+)
FVB/NJ MGP_FVBNJ_G0024356
protein coding gene Chr18:70569819-70584259 (+)
LP/J MGP_LPJ_G0024474
protein coding gene Chr18:74754777-74769308 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024386
protein coding gene Chr18:80934911-80949961 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025017
protein coding gene Chr18:73877320-73892353 (+)
PWK/PhJ MGP_PWKPhJ_G0023508
protein coding gene Chr18:71583574-71598567 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023304
protein coding gene Chr18:73342429-73363021 (-)
WSB/EiJ MGP_WSBEiJ_G0023827
protein coding gene Chr18:73829546-73844657 (+)



Homology
more
  • Human Ortholog
    MBD1, methyl-CpG binding domain protein 1
  • Vertebrate Orthologs
    6
  • Human Ortholog
    MBD1, methyl-CpG binding domain protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CXXC3, PCM1, RFT
  • Links
    NCBI Gene ID: 4152
    neXtProt AC: NX_Q9UIS9
    UniProt: Q9UIS9

  • Chr Location
    18q21.1; chr18:50266882-50281774 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    13 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null exhibited defects in adult hippocampal neurogenesis and function. Spatial learning was also impaired in mutant mice.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024561 Ensembl Gene Model | MGI Sequence Detail 15128 C57BL/6J ±  kb
    transcript ENSMUST00000224047 Ensembl | MGI Sequence Detail 2838 Not Applicable  
    polypeptide ENSMUSP00000153428 Ensembl | MGI Sequence Detail 644 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR016177 DNA-binding domain superfamily
      IPR001739 Methyl-CpG DNA binding
      IPR002857 Zinc finger, CXXC-type
    Molecular
    Reagents
    less
    • All nucleic 98
      cDNA 95
      Primer pair 3

      Microarray probesets 6
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 6
      Gene Ontology 12
      Phenotypes 13
    • Earliest
      J:50520 Hendrich B, et al., Identification and characterization of a family of mammalian methyl-CpG binding proteins. Mol Cell Biol. 1998 Nov;18(11):6538-47
    • Latest
      J:247059 Zhang P, et al., Methyl-CpG binding domain protein 1 regulates localization and activity of Tet1 in a CXXC3 domain-dependent manner. Nucleic Acids Res. 2017 Jul 07;45(12):7118-7136

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory