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    Chd8 chromodomain helicase DNA binding protein 8 [ Mus musculus (house mouse) ]

    Gene ID: 67772, updated on 7-Oct-2018

    Summary

    Official Symbol
    Chd8provided by MGI
    Official Full Name
    chromodomain helicase DNA binding protein 8provided by MGI
    Primary source
    MGI:MGI:1915022
    See related
    Ensembl:ENSMUSG00000053754 Vega:OTTMUSG00000023392
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Duplin; HELSNF1; AU015341; mKIAA1564; 5830451P18Rik
    Summary
    This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which is common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. In mammals, this gene has been shown to function in several processes including transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Knockout of this gene causes early embryonic lethality due to widespread apoptosis. Heterozygous loss of function mutations result in autism spectrum disorder-like behaviors that include increased anxiety, repetitive behavior, and altered social behavior. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 11.5), thymus adult (RPKM 10.3) and 28 other tissues See more
    Orthologs

    Genomic context

    See Chd8 in Genome Data Viewer
    Location:
    14; 14 C2
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 14 NC_000080.6 (52198151..52257807, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 14 NC_000080.5 (52817826..52857247, complement)

    Chromosome 14 - NC_000080.6Genomic Context describing neighboring genes Neighboring gene retinitis pigmentosa GTPase regulator interacting protein 1 Neighboring gene MRT4, mRNA turnover 4, homolog pseudogene Neighboring gene suppressor of Ty 16 Neighboring gene small nucleolar RNA, C/D box 8 Neighboring gene RAB2B, member RAS oncogene family Neighboring gene TOX high mobility group box family member 4 Neighboring gene methyltransferase like 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    DNA-dependent ATPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    armadillo repeat domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    beta-catenin binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity, acting on acid anhydrides IEA
    Inferred from Electronic Annotation
    more info
     
    methylated histone binding ISO
    Inferred from Sequence Orthology
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP-dependent chromatin remodeling ISO
    Inferred from Sequence Orthology
    more info
     
    Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    brain development ISO
    Inferred from Sequence Orthology
    more info
     
    chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    digestive tract development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    digestive tract development ISO
    Inferred from Sequence Orthology
    more info
     
    in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    long-term memory IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    negative regulation of fibroblast apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription by RNA polymerase III ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    prepulse inhibition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    startle response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    MLL1 complex ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    chromodomain-helicase-DNA-binding protein 8
    Names
    ATP-dependent helicase CHD8
    CHD-8
    axis duplication inhibitor
    helicase with SNF2 domain 1
    NP_963999.2
    XP_006519539.1
    XP_011243467.2
    XP_017171659.1
    XP_017171660.1
    XP_017171661.1

    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_201637.2NP_963999.2  chromodomain-helicase-DNA-binding protein 8

      See identical proteins and their annotated locations for NP_963999.2

      Status: REVIEWED

      Source sequence(s)
      DQ190419
      Consensus CDS
      CCDS36919.1
      UniProtKB/Swiss-Prot
      Q09XV5
      Related
      ENSMUSP00000087184.4, ENSMUST00000089752.10
      Conserved Domains (6) summary
      smart00592
      Location:23122356
      BRK; domain in transcription and CHROMO domain helicases
      cd00024
      Location:646706
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:832981
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam00176
      Location:8161103
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:11351249
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:727783
      Chromo; Chromo (CHRromatin Organization MOdifier) domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000080.6 Reference GRCm38.p4 C57BL/6J

      Range
      52198151..52257807 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017316172.1XP_017171661.1  chromodomain-helicase-DNA-binding protein 8 isoform X3

    2. XM_011245165.2XP_011243467.2  chromodomain-helicase-DNA-binding protein 8 isoform X1

    3. XM_017316170.1XP_017171659.1  chromodomain-helicase-DNA-binding protein 8 isoform X1

    4. XM_017316171.1XP_017171660.1  chromodomain-helicase-DNA-binding protein 8 isoform X1

    5. XM_006519476.3XP_006519539.1  chromodomain-helicase-DNA-binding protein 8 isoform X2

      See identical proteins and their annotated locations for XP_006519539.1

      UniProtKB/Swiss-Prot
      Q09XV5
      Related
      ENSMUSP00000142890.1, OTTMUSP00000027337, ENSMUST00000200169.5, OTTMUST00000056789
      Conserved Domains (6) summary
      smart00592
      Location:23122356
      BRK; domain in transcription and CHROMO domain helicases
      cd00024
      Location:646706
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:832981
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam00176
      Location:8161103
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:11351249
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:727783
      Chromo; Chromo (CHRromatin Organization MOdifier) domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001010928.1: Suppressed sequence

      Description
      NM_001010928.1: This RefSeq was permanently suppressed because the CDS was partial, and there is another valid RefSeq representing this locus.
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