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

Gene ID: 17190, updated on 27-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
  • 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 DNA methylation-dependent constitutive heterochromatin formation IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
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

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