HUMAN:CHD8

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	CHD8 (synonyms: HELSNF1, KIAA1564)
Protein Name(s)	Chromodomain-helicase-DNA-binding protein 8 CHD-8 ATP-dependent helicase CHD8 Helicase with SNF2 domain 1
External Links
UniProt	Q9HCK8
EMBL	CR749315 AL834524 AL135744 AL161747 CB043942 AB046784 AK131077 BC011695 BC025964 BC036920 BC063693 BC073903 BC098452
CCDS	CCDS45081.1 CCDS53885.1
RefSeq	NP_001164100.1 NP_065971.2
UniGene	Hs.530698
PDB	2CKA 2DL6
PDBsum	2CKA 2DL6
ProteinModelPortal	Q9HCK8
SMR	Q9HCK8
BioGrid	121709
IntAct	Q9HCK8
MINT	MINT-7542705
PhosphoSite	Q9HCK8
DMDM	317373586
MaxQB	Q9HCK8
PaxDb	Q9HCK8
PRIDE	Q9HCK8
Ensembl	ENST00000399982 ENST00000430710 ENST00000557364
GeneID	57680
KEGG	hsa:57680
UCSC	uc001war.2 uc001was.2
CTD	57680
GeneCards	GC14M021853
HGNC	HGNC:20153
HPA	HPA052186
MIM	610528 615032
neXtProt	NX_Q9HCK8
Orphanet	106
PharmGKB	PA134957052
eggNOG	COG0553
GeneTree	ENSGT00760000119067
HOVERGEN	HBG107676
InParanoid	Q9HCK8
KO	K04494
OMA	FLAYMED
OrthoDB	EOG7NSB1C
PhylomeDB	Q9HCK8
TreeFam	TF313572
Reactome	REACT_200731
ChiTaRS	CHD8
EvolutionaryTrace	Q9HCK8
GeneWiki	CHD8
GenomeRNAi	57680
NextBio	64494
PRO	PR:Q9HCK8
Proteomes	UP000005640
Bgee	Q9HCK8
CleanEx	HS_CHD8
ExpressionAtlas	Q9HCK8
Genevestigator	Q9HCK8
GO	GO:0071339 GO:0005634 GO:0043234 GO:0005524 GO:0008013 GO:0003677 GO:0003678 GO:0008094 GO:0042393 GO:0035064 GO:0002039 GO:0006200 GO:0043044 GO:0060070 GO:0032508 GO:0001701 GO:2000270 GO:0045892 GO:0030178 GO:0045944 GO:0045945 GO:0045893 GO:0006351
Gene3D	3.40.50.300
InterPro	IPR006576 IPR023780 IPR000953 IPR016197 IPR014001 IPR001650 IPR027417 IPR000330
Pfam	PF07533 PF00385 PF00271 PF00176
SMART	SM00592 SM00298 SM00487 SM00490
SUPFAM	SSF52540 SSF54160
PROSITE	PS50013 PS51192 PS51194

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
	GO:0008284	positive regulation of cell proliferation	PMID:20308527^[1]	ECO:0000314			P	See Fig. 6.	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:25294932^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	PMID:25294932^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0048565	digestive tract development	PMID:24998929^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0007420	brain development	PMID:24998929^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0071339	MLL1 complex	PMID:15960975^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0090090	negative regulation of canonical Wnt signaling pathway	PMID:18378692^[5]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045945	positive regulation of transcription by RNA polymerase III	PMID:17938208^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:17938208^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	PMID:17938208^[6]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	PMID:18378692^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0032991	protein-containing complex	PMID:18378692^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0043044	ATP-dependent chromatin remodeling	PMID:18378692^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0042393	histone binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q09XV5	F	Seeded From UniProt	complete
enables	GO:0035064	methylated histone binding	PMID:17938208^[6]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0008094	DNA-dependent ATPase activity	PMID:18378692^[5]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0008013	beta-catenin binding	PMID:18378692^[5]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:20453063^[7]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:18378692^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0005524	ATP binding	PMID:18378692^[5]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0003678	DNA helicase activity	PMID:18378692^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	PMID:18378692^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0002039	p53 binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q09XV5	F	Seeded From UniProt	complete
involved_in	GO:0090090	negative regulation of canonical Wnt signaling pathway	PMID:22083958^[8]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0008013	beta-catenin binding	PMID:22083958^[8]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	PMID:22083958^[8]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0032508	DNA duplex unwinding	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0003678	P	Seeded From UniProt	complete
involved_in	GO:0032508	DNA duplex unwinding	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0003678	P	Seeded From UniProt	complete
involved_in	GO:2000270	negative regulation of fibroblast apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	P	Seeded From UniProt	complete
involved_in	GO:0060134	prepulse inhibition	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	P	Seeded From UniProt	complete
involved_in	GO:0048565	digestive tract development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	P	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	P	Seeded From UniProt	complete
involved_in	GO:0043066	negative regulation of apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	P	Seeded From UniProt	complete
enables	GO:0042393	histone binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	F	Seeded From UniProt	complete
involved_in	GO:0035176	social behavior	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	P	Seeded From UniProt	complete
involved_in	GO:0007420	brain development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	C	Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	F	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	F	Seeded From UniProt	complete
enables	GO:0002039	p53 binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	F	Seeded From UniProt	complete
involved_in	GO:0001964	startle response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	P	Seeded From UniProt	complete
involved_in	GO:0001701	in utero embryonic development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q09XV5 ensembl:ENSMUSP00000142890	P	Seeded From UniProt	complete
involved_in	GO:0090090	negative regulation of canonical Wnt signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JIX5 ensembl:ENSRNOP00000071948	P	Seeded From UniProt	complete
enables	GO:0070016	armadillo repeat domain binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JIX5 ensembl:ENSRNOP00000071948	F	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JIX5 ensembl:ENSRNOP00000071948	P	Seeded From UniProt	complete
part_of	GO:0032991	protein-containing complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JIX5 ensembl:ENSRNOP00000071948	C	Seeded From UniProt	complete
involved_in	GO:0030178	negative regulation of Wnt signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JIX5 ensembl:ENSRNOP00000071948	P	Seeded From UniProt	complete
enables	GO:0008013	beta-catenin binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JIX5 ensembl:ENSRNOP00000071948	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JIX5 ensembl:ENSRNOP00000071948	C	Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000330	F	Seeded From UniProt	complete
enables	GO:0016817	hydrolase activity, acting on acid anhydrides	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006576	F	Seeded From UniProt	complete
involved_in	GO:0043044	ATP-dependent chromatin remodeling	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR034724	P	Seeded From UniProt	complete
involved_in	GO:0030178	negative regulation of Wnt signaling pathway	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	P	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	F	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	P	Seeded From UniProt	complete
part_of	GO:0071339	MLL1 complex	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	C	Seeded From UniProt	complete
enables	GO:0003678	DNA helicase activity	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	F	Seeded From UniProt	complete
enables	GO:0008094	DNA-dependent ATPase activity	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	F	Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	F	Seeded From UniProt	complete
enables	GO:0042393	histone binding	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	F	Seeded From UniProt	complete
involved_in	GO:0043044	ATP-dependent chromatin remodeling	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	P	Seeded From UniProt	complete
enables	GO:0002039	p53 binding	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	F	Seeded From UniProt	complete
enables	GO:0008013	beta-catenin binding	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	C	Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	P	Seeded From UniProt	complete
involved_in	GO:0043066	negative regulation of apoptotic process	GO_REF:0000104	ECO:0000256	match to sequence model evidence used in automatic assertion	UniRule:UR000369261	P	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-5368580	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0006325	chromatin organization	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0156	P	Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F	Seeded From UniProt	complete
involved_in	GO:0016055	Wnt signaling pathway	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0879	P	Seeded From UniProt	complete
enables	GO:0004386	helicase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0347	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0238	F	Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Menon, T et al. (2010) Regulation of androgen-responsive transcription by the chromatin remodeling factor CHD8. Mol. Endocrinol. 24 1165-74 PubMed GONUTS page
↑ ^2.0 ^2.1 Sugathan, A et al. (2014) CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc. Natl. Acad. Sci. U.S.A. 111 E4468-77 PubMed GONUTS page
↑ ^3.0 ^3.1 Bernier, R et al. (2014) Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158 263-76 PubMed GONUTS page
↑ Dou, Y et al. (2005) Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. Cell 121 873-85 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 ^5.7 ^5.8 ^5.9 Thompson, BA et al. (2008) CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. Mol. Cell. Biol. 28 3894-904 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 Yuan, CC et al. (2007) CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription. Mol. Cell. Biol. 27 8729-38 PubMed GONUTS page
↑ Batsukh, T et al. (2010) CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Hum. Mol. Genet. 19 2858-66 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 Nishiyama, M et al. (2012) Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway. Mol. Cell. Biol. 32 501-12 PubMed GONUTS page

[PMID:20308527-1] Menon, T et al. (2010) Regulation of androgen-responsive transcription by the chromatin remodeling factor CHD8. Mol. Endocrinol. 24 1165-74 PubMed GONUTS page

[PMID:25294932-2] 2.0 ^2.1 Sugathan, A et al. (2014) CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc. Natl. Acad. Sci. U.S.A. 111 E4468-77 PubMed GONUTS page

[PMID:24998929-3] 3.0 ^3.1 Bernier, R et al. (2014) Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158 263-76 PubMed GONUTS page

[PMID:15960975-4] Dou, Y et al. (2005) Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. Cell 121 873-85 PubMed GONUTS page

[PMID:18378692-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 ^5.7 ^5.8 ^5.9 Thompson, BA et al. (2008) CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. Mol. Cell. Biol. 28 3894-904 PubMed GONUTS page

[PMID:17938208-6] 6.0 ^6.1 ^6.2 ^6.3 Yuan, CC et al. (2007) CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription. Mol. Cell. Biol. 27 8729-38 PubMed GONUTS page

[PMID:20453063-7] Batsukh, T et al. (2010) CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Hum. Mol. Genet. 19 2858-66 PubMed GONUTS page

[PMID:22083958-8] 8.0 ^8.1 ^8.2 Nishiyama, M et al. (2012) Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway. Mol. Cell. Biol. 32 501-12 PubMed GONUTS page

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HUMAN:CHD8

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