Q09XV5 · CHD8_MOUSE

  • Protein
    Chromodomain-helicase-DNA-binding protein 8
  • Gene
    Chd8
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

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. Regulates alternative splicing of a core group of genes involved in neuronal differentiation, cell cycle and DNA repair. Enables H3K36me3-coupled transcription elongation and co-transcriptional RNA processing likely via interaction with HNRNPL.

Catalytic activity

Features

Showing features for binding site.

TypeIDPosition(s)Description
Binding site838-845ATP (UniProtKB | ChEBI)

GO annotations

AspectTerm
Cellular Componentchromatin
Cellular ComponentMLL1 complex
Cellular Componentnucleus
Cellular Componentprotein-containing complex
Molecular Functionarmadillo repeat domain binding
Molecular FunctionATP binding
Molecular FunctionATP hydrolysis activity
Molecular FunctionATP-dependent chromatin remodeler activity
Molecular Functionbeta-catenin binding
Molecular Functionchromatin binding
Molecular FunctionDNA binding
Molecular FunctionDNA helicase activity
Molecular Functionhistone binding
Molecular Functionmethylated histone binding
Molecular Functionp53 binding
Biological Processbrain development
Biological Processchromatin remodeling
Biological Processdigestive tract development
Biological Processin utero embryonic development
Biological ProcessmRNA processing
Biological Processnegative regulation of apoptotic process
Biological Processnegative regulation of canonical Wnt signaling pathway
Biological Processnegative regulation of DNA-templated transcription
Biological Processnegative regulation of fibroblast apoptotic process
Biological Processnegative regulation of transcription by RNA polymerase II
Biological Processnegative regulation of Wnt signaling pathway
Biological Processpositive regulation of DNA-templated transcription
Biological Processpositive regulation of transcription by RNA polymerase II
Biological Processpositive regulation of transcription by RNA polymerase III
Biological Processprepulse inhibition
Biological Processsocial behavior
Biological Processstartle response
Biological ProcessWnt signaling pathway

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Chromodomain-helicase-DNA-binding protein 8
  • EC number
  • Short names
    CHD-8
  • Alternative names
    • ATP-dependent helicase CHD8
    • Axis duplication inhibitor (Duplin)

Gene names

    • Name
      Chd8
    • Synonyms
      Kiaa1564

Organism names

  • Taxonomic identifier
  • Strain
    • C57BL/6J
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus

Accessions

  • Primary accession
    Q09XV5
  • Secondary accessions
    • Q3TV89
    • Q5I1Z2
    • Q6ZPM8

Proteomes

Organism-specific databases

Subcellular Location

Nucleus
Note: Localizes to the promoter regions of several CTNNB1-responsive genes. Also present at known CTCF target sites.

Keywords

Phenotypes & Variants

Disruption phenotype

Death during early embryogenesis due to widespread apoptosis. Embryos manifest growth retardation from 5.5 dpc and developmental arrest accompanied by massive apoptosis at 7.5 dpc. They develop into an egg cylinder but do not form a primitive streak or mesoderm. Mice lacking both Tp53 and Chd8 ameliorate this developmental arrest.

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 99 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

PTM/Processing

Features

Showing features for chain, modified residue, cross-link.

TypeIDPosition(s)Description
ChainPRO_00003673101-2582Chromodomain-helicase-DNA-binding protein 8
Modified residue434Phosphoserine
Modified residue555Phosphoserine
Modified residue564Phosphoserine
Cross-link611Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Modified residue1422Phosphoserine
Modified residue1426Phosphoserine
Modified residue1978Phosphoserine
Modified residue1980Phosphoserine
Modified residue1995Phosphothreonine
Modified residue1997Phosphoserine
Modified residue1999Phosphoserine
Modified residue2010Phosphoserine
Cross-link2027Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Modified residue2040Phosphoserine
Modified residue2070Phosphoserine
Modified residue2072Phosphoserine
Modified residue2184Phosphoserine
Modified residue2202Phosphoserine
Modified residue2204Phosphoserine
Modified residue2206Phosphothreonine
Modified residue2213Phosphoserine
Modified residue2217Phosphothreonine
Modified residue2225Phosphoserine
Cross-link2258Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Modified residue2520Phosphoserine

Post-translational modification

Sumoylated.

Keywords

Proteomic databases

PTM databases

Expression

Developmental stage

Expressed predominantly from early- to mid-stage mouse embryogenesis. Detected throughout embryos from 7.5 to 9.5 dpc but localizes predominantly in the brain, faces, branchial arches, limb buds, and tail buds of embryos at 10.5 dpc.

Gene expression databases

Interaction

Subunit

Interacts with CTNNB1 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 (By similarity).
Interacts with p53/TP53 and histone H1 (PubMed:19151705).
Interacts with CTCF (PubMed:16949368).
Interacts with TLK2 (By similarity).
Interacts with HNRNPL in an RNA-dependent manner

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY Q09XV5Cebpb P280332EBI-1169080, EBI-1029979
BINARY Q09XV5Ctcf Q611643EBI-1169080, EBI-932785

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for region, compositional bias, domain, motif.

TypeIDPosition(s)Description
Region22-111Disordered
Compositional bias43-58Polar residues
Compositional bias89-111Polar residues
Region136-155Disordered
Region253-283Disordered
Region349-377Disordered
Compositional bias357-373Pro residues
Region475-585Disordered
Compositional bias490-523Basic and acidic residues
Compositional bias562-585Basic and acidic residues
Region598-617Disordered
Domain644-711Chromo 1
Domain726-792Chromo 2
Domain825-999Helicase ATP-binding
Motif950-953DEAH box
Domain1139-1290Helicase C-terminal
Compositional bias1694-1712Basic and acidic residues
Region1694-1715Disordered
Region1791-2304Interaction with FAM124B
Region1990-2019Disordered
Region2045-2120Disordered
Compositional bias2076-2095Polar residues
Compositional bias2096-2118Basic and acidic residues
Region2187-2233Disordered
Region2486-2582Disordered
Compositional bias2492-2512Basic residues
Compositional bias2516-2532Polar residues
Compositional bias2537-2554Acidic residues

Sequence similarities

Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

Q09XV5-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    2,582
  • Mass (Da)
    290,847
  • Last updated
    2006-10-17 v1
  • Checksum
    D9432500F6A8C329
MADPIMDLFDDPNLFGLDSLTDDSFNQVTQDPIEEALGLPSSLDSLDQMNQDGGGGDVGNSSASDLVPPPEETASTELPKESTAPAPESLTLHDYTTQPTSQEQPAQPVLQTSTPTAGLLQVSKSQEILSQGNPFMGVSATGVSPSNTGGQPSQSAPKIVILKAPPNSSVTGTHVAQIQAQGITSTAQPLVAGTANGGKVTFTKVLTGTPLRPGVSIVSGNTVLATKVPGNQAAVQRIVQPSRPVKQLVLQPVKGSAPAGNPGAAGPPLKPAVTLTSTPTQGESKRITLVLQQPQSGGPQGHRHVVLGSLPGKIVLQGNQLAALTQAKNAQGQPAKVVTIQLQVQQPQQKIQIVPQPPSSQPQPQPQPPPSAQPLTLSSVQQAQIMGPGQNPGQRLSVPLKMVLQPQAGSSQGASSGLSVVKVLSASEVAALSSPASCAPHTAGKTGMEENRRLEHQKKQEKANRIVAEAIARARARGEQNIPRVLNEDELPSVRPEEEGEKKRRKKSSGERLKEEKPKKSKTAAASKTKGKSKLNTITPVVGKKRKRNTSSDNSDVEVMPAQSPREDEESSIQKRRSNRQVKRKKYTEDLDIKITDDEEEEEVDVTGPIKPEPILPEPVQEPDGETLPSMQFFVENPSEEDAAIVDKVLSMRVVKKELPSGQYTEAEEFFVKYKNYSYLHCEWATISQLEKDKRIHQKLKRFKTKMAQMRHFFHEDEEPFNPDYVEVDRILDESHSVDKDNGEPVIYYLVKWCSLPYEDSTWELKEDVDEGKIREFKRIQSRHPELRRVNRPQANAWKKLELSHEYKNRNQLREYQLEGVNWLLFNWYNRQNCILADEMGLGKTIQSIAFLQEVYNVGIHGPFLVIAPLSTITNWEREFNTWTEMNTIVYHGSLASRQMIQQYEMYCKDSRGRLIPGAYKFDALITTFEMILSDCPELREIEWRCVIIDEAHRLKNRNCKLLDSLKHMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSQFPSESEFLKDFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLSKGAGHTNMPNLLNTMMELRKCCNHPYLINGAEEKILMEFREACHIIPQDFHLQAMVRSAGKLVLIDKLLPKLKAGGHKVLIFSQMVRCLDILEDYLIQRRYLYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRDGNITGIQQFSKKEIEDLLRKGAYAAIMEEDDEGSKFCEEDIDQILLRRTTTITIESEGKGSTFAKASFVASENRTDISLDDPNFWQKWAKKADLDMDLLNSKNNLVIDTPRVRKQTRHFSTLKDDDLVEFSDLESEDDERPRSRRHDRHHTYGRTDCFRVEKHLLVYGWGRWRDILSHGRFKRRMTERDVETICRAILVYCLLHYRGDENIKSFIWDLISPAENGKTKELQNHSGLSIPVPRGRKGKKVKSQSTFDIHKADWIRKYNPDTLFQDESYKKHLKHQCNKVLLRVRMLYYLRQEVIGDQAEKVLGGAIASEIDIWFPVVDQLEVPTTWWDSEADKSLLIGVFKHGYEKYNTMRADPALCFLEKAGRPDDKAIAAEHRVLDNFSDLVEGIDFDKDCEDPEYKPLQGPPKDPDDEGDPLMMMDEEISVIDGEEAQVTQQPGHLFWPPGSALTARLRRLVTAYQRSYKREQMKMEAAERGDRRRRRCEAAFKLKEIARREKQQRWTRREQTDFYRVVSTFGVEYDPDNMQFHWDRFRTFARLDKKTDESLTKYFHGFVAMCRQVCRLPPAAGDEPPDPNLFIEPITEERASRTLYRIELLRRLREQVLCHPLLEDRLALCQPPGLELPKWWEPVRHDGELLRGAARHGVSQTDCNIMQDPDFSFLAARMNYMQNHQAGASAASLSRCSTPLLHQQCTSRTASPSPLRPDAPVEKSPEESTVQVPNLESLTLKLEDEVVARSRLTSQDYEVRVGSSDTAPLSRSVPPVKLEDEDDSDSELDLSKLSPSSSSSSSSSSSSSSTDESEDEKEEKLTADRSRPKLYDEESLLSLTMSQDGFPNEDGEQMTPELLLLQERQRASEWPKDRVLINRIDLVCQAVLSGKWPSNRRSQEVTAGGILGPGNHLLDSPSLTPGEDGDSPVPTPRSGSAASMAEEEASAVTTAAAQFTKLRRGMDEKEFTVQIKDEEGLKLTFQKHRLMANGVMGDGHPLFHKKKGNRKKLVELEVECMEEPNHLDLDLETRIPVINKVDGTLLVGDEAPRRAELEMWLQGHPEFAVDPRFLAYMEERRKQKWQRCKKNNKAELNCLGMEPVQPANSRNGKKGHYAETAFNRVLPGPVAPENSKKRVRRTRPDLSKMMALMQGGSTGSLSLHNTFQHSSSNLQSVSSLGHSSTTSASLPFMPFVMGAAAPPHVDSSTMLHHHHHHPHPHHHHHHHPGLRTTGYPSSPATTTSGTALRLPTLQPEDDDEEEDEEDDDLSQGYDSSERDFSLIDDPMMPANSDSSEDADD

Q09XV5-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 3 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
A0A2I3BR97A0A2I3BR97_MOUSEChd822
A0A2I3BRI1A0A2I3BRI1_MOUSEChd8138
F7AL76F7AL76_MOUSEChd81031

Sequence caution

The sequence BAC98203.2 differs from that shown. Reason: Miscellaneous discrepancy Partially unspliced pre-RNA.

Features

Showing features for sequence conflict, compositional bias, alternative sequence.

TypeIDPosition(s)Description
Sequence conflict21in Ref. 2; AAW56421
Compositional bias43-58Polar residues
Compositional bias89-111Polar residues
Compositional bias357-373Pro residues
Compositional bias490-523Basic and acidic residues
Compositional bias562-585Basic and acidic residues
Alternative sequenceVSP_036676745-751in isoform 2
Alternative sequenceVSP_036677752-2582in isoform 2
Compositional bias1694-1712Basic and acidic residues
Sequence conflict2020in Ref. 3; BAC98203
Compositional bias2076-2095Polar residues
Compositional bias2096-2118Basic and acidic residues
Sequence conflict2298in Ref. 3; BAC98203
Compositional bias2492-2512Basic residues
Compositional bias2516-2532Polar residues
Compositional bias2537-2554Acidic residues

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
DQ190419
EMBL· GenBank· DDBJ
ABB02259.1
EMBL· GenBank· DDBJ
mRNA
AY863219
EMBL· GenBank· DDBJ
AAW56421.1
EMBL· GenBank· DDBJ
mRNA
AK129393
EMBL· GenBank· DDBJ
BAC98203.2
EMBL· GenBank· DDBJ
Transcribed RNA Sequence problems.
AK160299
EMBL· GenBank· DDBJ
BAE35730.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

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