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

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 AllianceGenome:MGI:1915022
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; 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: human all
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Genomic context

Location:: 14 C2; 14 26.84 cM

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Male-Dominant Effects of Chd8 Haploinsufficiency on Synaptic Phenotypes during Development in Mouse Prefrontal Cortex.
Title: Male-Dominant Effects of Chd8 Haploinsufficiency on Synaptic Phenotypes during Development in Mouse Prefrontal Cortex.
Chd8 haploinsufficiency impacts rearing experience in C57BL/6 mice.
Title: Chd8 haploinsufficiency impacts rearing experience in C57BL/6 mice.
Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction.
Title: Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction.
CHD8 regulates gut epithelial cell function and affects autism-related behaviors through the gut-brain axis.
Title: CHD8 regulates gut epithelial cell function and affects autism-related behaviors through the gut-brain axis.
Deletion of the autism-related gene Chd8 alters activity-dependent transcriptional responses in mouse postmitotic neurons.
Title: Deletion of the autism-related gene Chd8 alters activity-dependent transcriptional responses in mouse postmitotic neurons.
Conserved and Distinct Functions of the Autism-Related Chromatin Remodeler CHD8 in Embryonic and Adult Forebrain Neurogenesis.
Title: Conserved and Distinct Functions of the Autism-Related Chromatin Remodeler CHD8 in Embryonic and Adult Forebrain Neurogenesis.
Deletion of CHD8 in cerebellar granule neuron progenitors leads to severe cerebellar hypoplasia, ataxia, and psychiatric behavior in mice.
Title: Deletion of CHD8 in cerebellar granule neuron progenitors leads to severe cerebellar hypoplasia, ataxia, and psychiatric behavior in mice.
Autism-associated chromatin remodeler CHD8 regulates erythroblast cytokinesis and fine-tunes the balance of Rho GTPase signaling.
Title: Autism-associated chromatin remodeler CHD8 regulates erythroblast cytokinesis and fine-tunes the balance of Rho GTPase signaling.
Oxytocin ameliorates impaired social behavior in a Chd8 haploinsufficiency mouse model of autism.
Title: Oxytocin ameliorates impaired social behavior in a Chd8 haploinsufficiency mouse model of autism.
The autism-related protein CHD8 contributes to the stemness and differentiation of mouse hematopoietic stem cells.
Title: The autism-related protein CHD8 contributes to the stemness and differentiation of mouse hematopoietic stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Variation

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Alleles

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

Endonuclease-mediated (12) 1 citation
Gene trapped (1)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1321 (e-PCR)
- UniSTS:65859

NoName (e-PCR)
- UniSTS:237179

AU015341 (e-PCR)
- UniSTS:209026

AW549269 (e-PCR)
- UniSTS:180648

WI-14045 (e-PCR)
- UniSTS:39614

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent chromatin remodeler activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-dependent chromatin remodeler activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA binding	IBA Inferred from Biological aspect of Ancestor 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 binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation 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 beta-catenin binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	ISO Inferred from Sequence Orthology more info	PubMed
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables histone binding	IBA Inferred from Biological aspect of Ancestor 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 methylated histone binding	ISO Inferred from Sequence Orthology more info
enables methylated histone binding	ISS Inferred from Sequence or Structural Similarity more info
enables p53 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in digestive tract development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity 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
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in negative regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity 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 II	ISS Inferred from Sequence or Structural Similarity 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 by RNA polymerase III	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within prepulse inhibition	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	IBA Inferred from Biological aspect of Ancestor more info
part_of MLL1 complex	ISO Inferred from Sequence Orthology more info
part_of MLL1 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor 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

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Preferred Names: chromodomain-helicase-DNA-binding protein 8

Names: ATP-dependent helicase CHD8; axis duplication inhibitor; helicase with SNF2 domain 1

NP_963999.2

EC 3.6.4.12

XP_011243467.3

EC 3.6.4.12

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)

NM_201637.3 → NP_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, Q3TV89, Q5I1Z2, Q6ZPM8

Related

ENSMUSP00000142890.2, ENSMUST00000200169.6

Conserved Domains (6) summary

smart00592
Location:2312 → 2356

BRK; domain in transcription and CHROMO domain helicases

cd00024
Location:646 → 706

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:832 → 981

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:816 → 1103

SNF2_N; SNF2 family N-terminal domain

pfam00271
Location:1135 → 1249

Helicase_C; Helicase conserved C-terminal domain

pfam00385
Location:727 → 783

Chromo; Chromo (CHRromatin Organization MOdifier) domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

52435608..52495499 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (7) summary

PTZ00121
Location:449 → 624

PTZ00121; MAEBL; Provisional

PLN03142
Location:812 → 1411

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd18663
Location:723 → 781

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:640 → 705

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:2320 → 2362

BRK; BRK domain

cl28899
Location:813 → 1034

DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

cl41773
Location:61 → 421

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

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.