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

    Gene ID: 67772, updated on 6-Sep-2021

    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
    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
    Du; Chd-8; 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
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    Genomic context

    See Chd8 in Genome Data Viewer
    Location:
    14; 14 C2
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (52435608..52495499, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (52198151..52258042, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 14 NC_000080.5 (52817826..52857247, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene retinitis pigmentosa GTPase regulator interacting protein 1 Neighboring gene MRT4, mRNA turnover 4, homolog pseudogene Neighboring gene SPT16, facilitates chromatin remodeling subunit Neighboring gene predicted gene, 26590 Neighboring gene small nucleolar RNA, C/D box 8 Neighboring gene RAB2B, member RAS oncogene family Neighboring gene predicted gene, 23758 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 Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP-dependent activity, acting on DNA ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP-dependent chromatin remodeler activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables armadillo repeat domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables beta-catenin binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables methylated histone binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in brain development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within digestive tract development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in digestive tract development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within long-term memory IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of fibroblast apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase III ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within prepulse inhibition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within startle response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MLL1 complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of 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
    axis duplication inhibitor
    helicase with SNF2 domain 1
    NP_963999.2
    XP_011243467.3

    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_201637.3NP_963999.2  chromodomain-helicase-DNA-binding protein 8

      See identical proteins and their annotated locations for NP_963999.2

      Status: REVIEWED

      Source sequence(s)
      AC126037, AC159323
      Consensus CDS
      CCDS36919.1
      UniProtKB/Swiss-Prot
      Q09XV5
      Related
      ENSMUSP00000142890.2, ENSMUST00000200169.6
      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 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      52435608..52495499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011245165.4XP_011243467.3  chromodomain-helicase-DNA-binding protein 8 isoform X1

      Conserved Domains (7) summary
      PTZ00121
      Location:449624
      PTZ00121; MAEBL; Provisional
      PLN03142
      Location:8121411
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd18663
      Location:723781
      CD2_tandem_CHD5-9_like; repeat 2 of the paired tandem chromodomains of chromodomain helicase DNA-binding protein 5-9, and similar proteins
      cd18668
      Location:640705
      CD1_tandem_CHD5-9_like; repeat 1 of the paired tandem chromodomains of chromodomain helicase DNA-binding protein 5-9, and similar proteins
      pfam07533
      Location:23202362
      BRK; BRK domain
      cl28899
      Location:8131034
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily
      cl41773
      Location:61421
      SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4

    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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