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Description for Protein MBD1

methyl-CpG binding domain protein 1
19 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. Five transcript variants of the MBD1 are generated by alternative splicing resulting in protein isoforms that contain one MBD domain, two to three cysteine-rich (CXXC) domains, and some differences in the COOH terminus. All five transcript variants repress transcription from methylated promoters; in addition, variants with three CXXC domains also repress unmethylated promoter activity. MBD1 and MBD2 map very close to each other on chromosome 18q21. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • MBD: Methyl-CpG binding domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K11589
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    CXXC finger protein 3; CXXC3; The regulator of fibroblast growth factor 2 (FGF-2) transcription; Methyl-CpG binding domain protein 1 isoform 1; Methyl-CpG binding domain protein 1 isoform 2; Methyl-CpG binding domain protein 1 isoform PCM1; Methyl-CpG binding domain protein 1 isoform 3; Methyl-CpG binding domain protein 1 isoform 4; RFT; Protein containing methyl CpG binding domain 1; PCM1; Methyl CpG binding protein MBD1; Methyl CpG binding protein 1 complex; MECP1 complex
    Approved Symbol:
    MBD1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 30
    Human (de-) phosphorylation sites: 30; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01133 Entrez Gene ID: 4152 OMIM ID: 156535 Swissprot Accession: Q9UIS9;