HAMAP rule MF_03071
General rule information
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| Accession | MF_03071 |
| Dates | 5-MAR-2009 (Created)
2-SEP-2024 (Last updated, Version 11) |
| Name | CHD8 |
| Scope(s) |
Eukaryota Vertebrata |
| Template(s) | Q9HCK8 (CHD8_HUMAN); Q09XV5 (CHD8_MOUSE); Q9JIX5 (CHD8_RAT); [ Recover all ] |
| Triggered by |
HAMAP; MF_03071 (Get profile general information and statistics) |
Propagated annotation
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Identifier, protein and gene names
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| Identifier | CHD8 |
| RecName: Full=Chromodomain-helicase-DNA-binding protein 8;<br /> Short=CHD-8;<br /> EC=<a href="https://enzyme.expasy.org/EC/3.6.4.12">3.6.4.12</a>;<br /> AltName: Full=ATP-dependent helicase CHD8; | |
| Gene name | Name=CHD8; |
Comments
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| case <OC:Mammalia> | |
| FUNCTION | DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription. |
| CATALYTIC ACTIVITY | Reaction=ATP + H2O = ADP + phosphate + H(+); Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; |
| SUBUNIT | Interacts with p53/TP53, histone H1, CTNNB1, CTCF and PIAS3. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with CHD7. Interacts with FAM124B. |
| SUBCELLULAR LOCATION | Nucleus. Note=Localizes to the promoter regions of several CTNNB1-responsive genes. Also present at known CTCF target sites. |
| PTM | Sumoylated. |
| else | |
| FUNCTION | DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/@gn(TP53)-mediated apoptosis by recruiting histone H1 and preventing p53/@gn(TP53) transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta- catenin (@gn(CTNNB1)) activity. Negatively regulates @gn(CTNNB1)- targeted gene expression by being recruited specifically to the promoter regions of several @gn(CTNNB1) responsive genes. May also act as a transcription activator by participating in efficient U6 RNA polymerase III transcription. |
| CATALYTIC ACTIVITY | Reaction=ATP + H2O = ADP + phosphate + H(+); Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; |
| SUBUNIT | Component of some MLL1/MLL complex. |
| SUBCELLULAR LOCATION | Nucleus. |
| end case | |
| SIMILARITY | Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily. |
Keywords
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| Activator | |
| ATP-binding | |
| Chromatin regulator | |
| DNA-binding | |
| <a href="https://www.uniprot.org/keywords/KW-0347">Helicase</a> | |
| Hydrolase | |
| Nucleotide-binding | |
| Nucleus | |
| Repeat | |
| Repressor | |
| Transcription | |
| Transcription regulation | |
| Wnt signaling pathway | |
| case <FTTag:sumo> | |
| Isopeptide bond | |
| Ubl conjugation | |
| end case | |
Gene Ontology
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| GO:0005634; Cellular component:nucleus |
| GO:0071339; Cellular component:MLL1 complex |
| GO:0005524; Molecular function:ATP binding |
| GO:0003677; Molecular function:DNA binding |
| GO:0003678; Molecular function:DNA helicase activity |
| GO:0008094; Molecular function:ATP-dependent activity, acting on DNA |
| GO:0002039; Molecular function:p53 binding |
| GO:0042393; Molecular function:histone binding |
| GO:0008013; Molecular function:beta-catenin binding |
| GO:0006338; Biological process:chromatin remodeling |
| GO:0045893; Biological process:positive regulation of DNA-templated transcription |
| GO:0045892; Biological process:negative regulation of DNA-templated transcription |
| GO:0030178; Biological process:negative regulation of Wnt signaling pathway |
| GO:0043066; Biological process:negative regulation of apoptotic process |
Cross-references
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| PROSITE | PS00598; CHROMO_1; 2; |
| PROSITE | PS50013; CHROMO_2; 2; |
| PROSITE | PS00690; DEAH_ATP_HELICASE; 1; |
| PROSITE | PS51192; HELICASE_ATP_BIND_1; 1; |
| PROSITE | PS51194; HELICASE_CTER; 1; |
| PROSITE | PS50312; ASP_RICH; 0-unlimited; |
| PROSITE | PS50322; GLN_RICH; 0-unlimited; |
| PROSITE | PS50324; SER_RICH; 0-unlimited; |
| PROSITE | PS50316; HIS_RICH; 0-unlimited; |
| Pfam | PF07533; BRK; 1; |
| Pfam | PF00385; Chromo; 2; |
| Pfam | PF00271; Helicase_C; 1; |
| Pfam | PF00176; SNF2_N; 1; |
Features
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| From: CHD8_HUMAN (Q9HCK8) | ||||||||||||
| Key | From | To | Description | Tag | Condition | FTGroup | ||||||
| case <OC:Mammalia> | ||||||||||||
| REGION | 1789 | 2302 | /note="Interaction with FAM124B" | |||||||||
| end case | ||||||||||||
| From: CHD8_RAT (Q9JIX5) | ||||||||||||
| Key | From | To | Description | Tag | Condition | FTGroup | ||||||
| case <OC:Mammalia> | ||||||||||||
| CROSSLNK | 609 | 609 | /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)" | sumo | K | |||||||
| end case | ||||||||||||
Additional information
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| Size range | 2184-2594 amino acids |
| Related rules |
None |
| Fusion | Nter: None Cter: None |