Format

Send to:

Choose Destination

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

Gene ID: 67772, updated on 10-Oct-2019

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
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

Genomic context

See Chd8 in Genome Data Viewer
Location:
14; 14 C2
Exon count:
40
Annotation release Status Assembly Chr Location
108 current 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_000080.6Genomic 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 uncharacterized LOC115488381 Neighboring gene small nucleolar RNA, C/D box 8 Neighboring gene small nucleolar RNA SNORA72 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 Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

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
 
plasma membrane 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
axis duplication inhibitor
helicase with SNF2 domain 1
NP_963999.2
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_201637.3NP_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
    ENSMUSP00000142890.1, ENSMUST00000200169.5
    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 108 details...Open this link in a new tab

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

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000080.6 Reference GRCm38.p6 C57BL/6J

    Range
    52198151..52258042 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017316172.2XP_017171661.1  chromodomain-helicase-DNA-binding protein 8 isoform X2

  2. XM_011245165.3XP_011243467.2  chromodomain-helicase-DNA-binding protein 8 isoform X1

  3. XM_017316170.2XP_017171659.1  chromodomain-helicase-DNA-binding protein 8 isoform X1

  4. XM_017316171.2XP_017171660.1  chromodomain-helicase-DNA-binding protein 8 isoform X1

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.
Support Center