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    MBD6 methyl-CpG binding domain protein 6 [ Homo sapiens (human) ]

    Gene ID: 114785, updated on 15-Apr-2019

    Summary

    Official Symbol
    MBD6provided by HGNC
    Official Full Name
    methyl-CpG binding domain protein 6provided by HGNC
    Primary source
    HGNC:HGNC:20445
    See related
    Ensembl:ENSG00000166987
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in testis (RPKM 15.8), spleen (RPKM 15.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See MBD6 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (57520710..57530148)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57915463..57923931)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene methionyl-tRNA synthetase Neighboring gene microRNA 6758 Neighboring gene DNA damage inducible transcript 3 Neighboring gene microRNA 616 Neighboring gene dynactin subunit 2 Neighboring gene kinesin family member 5A Neighboring gene phosphatidylinositol-5-phosphate 4-kinase type 2 gamma

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • UCH proteinases, organism-specific biosystem (from REACTOME)
      UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1887

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    chromocenter IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chromocenter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    methyl-CpG-binding domain protein 6
    Names
    methyl-CpG-binding protein MBD6

    NCBI Reference Sequences (RefSeq)

    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_052897.4NP_443129.3  methyl-CpG-binding domain protein 6

      See identical proteins and their annotated locations for NP_443129.3

      Status: VALIDATED

      Source sequence(s)
      AB067474, AC022506, AK056399
      Consensus CDS
      CCDS8944.1
      UniProtKB/Swiss-Prot
      Q96DN6
      UniProtKB/TrEMBL
      A0A024RBA3, Q6P0P0
      Related
      ENSP00000347896.3, ENST00000355673.8
      Conserved Domains (1) summary
      cl00110
      Location:1684
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      57520710..57530148
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719217.1XP_006719280.1  methyl-CpG-binding domain protein 6 isoform X1

      See identical proteins and their annotated locations for XP_006719280.1

      Conserved Domains (1) summary
      cl00110
      Location:1684
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
    2. XM_006719218.1XP_006719281.1  methyl-CpG-binding domain protein 6 isoform X1

      See identical proteins and their annotated locations for XP_006719281.1

      Conserved Domains (1) summary
      cl00110
      Location:1684
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
    3. XM_011537851.3XP_011536153.1  methyl-CpG-binding domain protein 6 isoform X1

      See identical proteins and their annotated locations for XP_011536153.1

      Conserved Domains (1) summary
      cl00110
      Location:1684
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
    4. XM_005268617.2XP_005268674.1  methyl-CpG-binding domain protein 6 isoform X1

      See identical proteins and their annotated locations for XP_005268674.1

      Conserved Domains (1) summary
      cl00110
      Location:1684
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
    5. XM_005268620.3XP_005268677.1  methyl-CpG-binding domain protein 6 isoform X2

      Conserved Domains (1) summary
      cl00110
      Location:1684
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
    6. XM_005268618.1XP_005268675.1  methyl-CpG-binding domain protein 6 isoform X1

      See identical proteins and their annotated locations for XP_005268675.1

      Conserved Domains (1) summary
      cl00110
      Location:1684
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

    RNA

    1. XR_429075.2 RNA Sequence

    2. XR_429073.2 RNA Sequence

    3. XR_429076.2 RNA Sequence

    4. XR_429078.2 RNA Sequence

    5. XR_002957286.1 RNA Sequence

    6. XR_429079.2 RNA Sequence

    7. XR_001748569.2 RNA Sequence

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