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    Mbd1 methyl-CpG binding domain protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 17190, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mbd1provided by MGI
    Official Full Name
    methyl-CpG binding domain protein 1provided by MGI
    Primary source
    MGI:MGI:1333811
    See related
    Ensembl:ENSMUSG00000024561 AllianceGenome:MGI:1333811
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PCM1; Cxxc3
    Summary
    Enables DNA binding activity. Predicted to be involved in negative regulation of astrocyte differentiation and negative regulation of gene expression. Located in cytoplasm; heterochromatin; and nuclear lumen. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; and retina. Human ortholog(s) of this gene implicated in lung cancer. Orthologous to human MBD1 (methyl-CpG binding domain protein 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 15.4), genital fat pad adult (RPKM 13.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mbd1 in Genome Data Viewer
    Location:
    18 E2; 18 50.7 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (74400676..74415808)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (74267605..74282737)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2512 Neighboring gene CXXC finger protein 1 Neighboring gene ribosomal protein L10A pseudogene Neighboring gene cilia and flagella associated protein 53 Neighboring gene fatty acid-binding protein, epidermal pseudogene Neighboring gene STARR-seq mESC enhancer starr_45005 Neighboring gene STARR-seq mESC enhancer starr_45006 Neighboring gene STARR-seq mESC enhancer starr_45007 Neighboring gene predicted gene, 41773

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Forward genetic screen of homeostatic antibody levels in the Collaborative Cross identifies MBD1 as a novel regulator of B cell homeostasis. Hampton BK, et al. PLoS Genet, 2022 Dec. PMID 36574452, Free PMC Article
    2. Methyl-CpG-Binding Protein MBD1 Regulates Neuronal Lineage Commitment through Maintaining Adult Neural Stem Cell Identity. Jobe EM, et al. J Neurosci, 2017 Jan 18. PMID 28100736, Free PMC Article
    3. Mice lacking methyl-CpG binding protein 1 have deficits in adult neurogenesis and hippocampal function. Zhao X, et al. Proc Natl Acad Sci U S A, 2003 May 27. PMID 12748381, Free PMC Article
    4. Mbd1 is recruited to both methylated and nonmethylated CpGs via distinct DNA binding domains. Jørgensen HF, et al. Mol Cell Biol, 2004 Apr. PMID 15060159, Free PMC Article
    5. The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits. Allan AM, et al. Hum Mol Genet, 2008 Jul 1. PMID 18385101, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Forward genetic screen of homeostatic antibody levels in the Collaborative Cross identifies MBD1 as a novel regulator of B cell homeostasis.
      Title: Forward genetic screen of homeostatic antibody levels in the Collaborative Cross identifies MBD1 as a novel regulator of B cell homeostasis.
    2. Knock-out MBD1 mice displayed reduced responses in the dorsal root ganglia to acute pain and neuropathic pain.
      Title: MBD1 Contributes to the Genesis of Acute Pain and Neuropathic Pain by Epigenetic Silencing of Oprm1 and Kcna2 Genes in Primary Sensory Neurons.
    3. MBD1 regulates localization and activity of Tet1 in a CXXC3 domain-dependent manner.
      Title: Methyl-CpG binding domain protein 1 regulates localization and activity of Tet1 in a CXXC3 domain-dependent manner.
    4. MBD1 has a role in neural stem cell maintenance and epigenetic regulation.
      Title: Methyl-CpG-Binding Protein MBD1 Regulates Neuronal Lineage Commitment through Maintaining Adult Neural Stem Cell Identity.
    5. MBD1 targets short interspersed nuclear elements, but does not exclude RNA Polymerase III.
      Title: SINE transcription by RNA polymerase III is suppressed by histone methylation but not by DNA methylation.
    6. We demonstrated the importance of Aire's interaction with the ATF7ip-MBD1 protein complex in maintaining central tolerance
      Title: The transcriptional regulator Aire coopts the repressive ATF7ip-MBD1 complex for the induction of immunotolerance.
    7. H19 lncRNA controls gene expression of the Imprinted Gene Network by recruiting MBD1.
      Title: H19 lncRNA controls gene expression of the Imprinted Gene Network by recruiting MBD1.
    8. regulatory loop formed by MBD1 and miR-195 is an important component of the epigenetic network that controls aNSC fate
      Title: An epigenetic feedback regulatory loop involving microRNA-195 and MBD1 governs neural stem cell differentiation.
    9. MBD1, miR-184, and Numbl form a regulatory network that helps control the balance between proliferation and differentiation of adult neural stem/progenitor cells.
      Title: Epigenetic regulation of miR-184 by MBD1 governs neural stem cell proliferation and differentiation.
    10. Mbd1 and DNA methylation-mediated epigenetic mechanism regulated the expression of stem cell mitogen Fgf-2 in adult neural stem/progenitor cells.
      Title: Epigenetic regulation of the stem cell mitogen Fgf-2 by Mbd1 in adult neural stem/progenitor cells.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables double-stranded methylated DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables methyl-CpG binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unmethylated CpG binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables unmethylated CpG binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of astrocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in heterochromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    methyl-CpG-binding domain protein 1
    Names
    methyl-CpG-binding protein MBD1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001357421.2 → NP_001344350.1  methyl-CpG-binding domain protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC147367
      UniProtKB/Swiss-Prot
      Q3TMA4, Q3U101, Q6NSW0, Q792D6, Q8CCL9, Q9DC19, Q9Z2E2
      Conserved Domains (2) summary
      pfam02008
      Location:359 → 403
      zf-CXXC; CXXC zinc finger domain
      pfam01429
      Location:1 → 72
      MBD; Methyl-CpG binding domain

    2. NM_001357422.2 → NP_001344351.1  methyl-CpG-binding domain protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC147367
      UniProtKB/TrEMBL
      A0A286YCP6
      Conserved Domains (1) summary
      pfam02008
      Location:164 → 208
      zf-CXXC; CXXC zinc finger domain

    3. NM_001357423.2 → NP_001344352.1  methyl-CpG-binding domain protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC147367
      Consensus CDS
      CCDS89280.1
      UniProtKB/Swiss-Prot
      Q3TMA4, Q3U101, Q6NSW0, Q792D6, Q8CCL9, Q9DC19, Q9Z2E2
      UniProtKB/TrEMBL
      A0A286YDI1
      Related
      ENSMUSP00000153428.2, ENSMUST00000224047.2
      Conserved Domains (2) summary
      pfam02008
      Location:359 → 403
      zf-CXXC; CXXC zinc finger domain
      pfam01429
      Location:1 → 72
      MBD; Methyl-CpG binding domain

    4. NM_001402889.1 → NP_001389818.1  methyl-CpG-binding domain protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC147367

    5. NM_001402890.1 → NP_001389819.1  methyl-CpG-binding domain protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC147367

    6. NM_001402891.1 → NP_001389820.1  methyl-CpG-binding domain protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC147367
      Related
      ENSMUSP00000153085.2, ENSMUST00000224332.2

    7. NM_001402892.1 → NP_001389821.1  methyl-CpG-binding domain protein 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC147367

    8. NM_001402894.1 → NP_001389823.1  methyl-CpG-binding domain protein 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC147367

    9. NM_001402895.1 → NP_001389824.1  methyl-CpG-binding domain protein 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC147367

    10. NM_013594.4 → NP_038622.2  methyl-CpG-binding domain protein 1 isoform 1

      See identical proteins and their annotated locations for NP_038622.2

      Status: VALIDATED

      Source sequence(s)
      AC147367
      Consensus CDS
      CCDS50321.1
      UniProtKB/TrEMBL
      A0A0R4J159, A0A5F8MPN9
      Related
      ENSMUSP00000095137.4, ENSMUST00000097530.5
      Conserved Domains (2) summary
      pfam02008
      Location:243 → 288
      zf-CXXC; CXXC zinc finger domain
      pfam01429
      Location:5 → 69
      MBD; Methyl-CpG binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      74400676..74415808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525707.3 → XP_006525770.1  methyl-CpG-binding domain protein 1 isoform X3

      UniProtKB/Swiss-Prot
      Q3TMA4, Q3U101, Q6NSW0, Q792D6, Q8CCL9, Q9DC19, Q9Z2E2
      Conserved Domains (2) summary
      pfam01429
      Location:1 → 72
      MBD; Methyl-CpG binding domain
      pfam02008
      Location:314 → 360
      zf-CXXC; CXXC zinc finger domain

    2. XM_030250354.2 → XP_030106214.1  methyl-CpG-binding domain protein 1 isoform X7

      Conserved Domains (1) summary
      pfam02008
      Location:119 → 165
      zf-CXXC; CXXC zinc finger domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z2E2.2 GenPept UniProtKB/Swiss-Prot:Q9Z2E2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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