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    CHD6 chromodomain helicase DNA binding protein 6 [ Homo sapiens (human) ]

    Gene ID: 84181, updated on 2-Nov-2024

    Summary

    Official Symbol
    CHD6provided by HGNC
    Official Full Name
    chromodomain helicase DNA binding protein 6provided by HGNC
    Primary source
    HGNC:HGNC:19057
    See related
    Ensembl:ENSG00000124177 MIM:616114; AllianceGenome:HGNC:19057
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHD5; RIGB; CHD-6
    Summary
    This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in ovary (RPKM 7.0), thyroid (RPKM 6.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CHD6 in Genome Data Viewer
    Location:
    20q12
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (41402083..41618377, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (43133884..43350249, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (40030723..40247016, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904985 Neighboring gene zinc finger MYM-type containing 1 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:40020313-40020978 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:40053627-40053868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17895 Neighboring gene uncharacterized LOC124904904 Neighboring gene ribosomal protein L12 pseudogene 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:40195885-40196079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12922 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:40278687-40279204 Neighboring gene NFE2L2 motif-containing MPRA enhancer 172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17896 Neighboring gene uncharacterized LOC124904905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17899 Neighboring gene RNA, U6 small nuclear 1018, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1335

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP-dependent activity, acting on DNA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP-dependent chromatin remodeler activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transcription coregulator binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell redox homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    chromodomain-helicase-DNA-binding protein 6
    Names
    ATP-dependent helicase CHD6
    helicase C-terminal domain- and SNF2 N-terminal domain-containing protein
    radiation-induced gene B protein
    NP_115597.3
    XP_005260633.1
    XP_011527382.1
    XP_011527384.1
    XP_016883588.1
    XP_016883589.1
    XP_016883590.1
    XP_016883591.1
    XP_016883593.1
    XP_047296501.1
    XP_047296502.1
    XP_047296503.1
    XP_047296504.1
    XP_047296505.1
    XP_047296506.1
    XP_047296507.1
    XP_054180093.1
    XP_054180094.1
    XP_054180095.1
    XP_054180096.1
    XP_054180097.1
    XP_054180098.1
    XP_054180099.1
    XP_054180100.1
    XP_054180101.1
    XP_054180102.1
    XP_054180103.1
    XP_054180104.1
    XP_054180105.1
    XP_054180106.1
    XP_054180107.1
    XP_054180108.1
    XP_054180109.1
    XP_054180110.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_050686.2 RefSeqGene

      Range
      5000..221294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032221.5NP_115597.3  chromodomain-helicase-DNA-binding protein 6

      See identical proteins and their annotated locations for NP_115597.3

      Status: REVIEWED

      Source sequence(s)
      AL031667, AL031669, AL121674
      Consensus CDS
      CCDS13317.1
      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
      Related
      ENSP00000362330.3, ENST00000373233.8
      Conserved Domains (5) summary
      cd00046
      Location:480629
      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:464751
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:783897
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:376429
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      cl02688
      Location:24022437
      BRK; BRK domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      41402083..41618377 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440549.1XP_047296505.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    2. XM_047440545.1XP_047296501.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    3. XM_047440546.1XP_047296502.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    4. XM_047440548.1XP_047296504.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    5. XM_047440547.1XP_047296503.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    6. XM_047440550.1XP_047296506.1  chromodomain-helicase-DNA-binding protein 6 isoform X5

    7. XM_017028100.2XP_016883589.1  chromodomain-helicase-DNA-binding protein 6 isoform X6

      Conserved Domains (5) summary
      cd00046
      Location:458607
      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:442729
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:761875
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:354407
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      cl02688
      Location:23802415
      BRK; BRK domain
    8. XM_011529080.3XP_011527382.1  chromodomain-helicase-DNA-binding protein 6 isoform X3

      Conserved Domains (5) summary
      cd00046
      Location:478627
      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:462749
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:781895
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:374427
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      cl02688
      Location:24002435
      BRK; BRK domain
    9. XM_017028101.2XP_016883590.1  chromodomain-helicase-DNA-binding protein 6 isoform X4

    10. XM_017028099.3XP_016883588.1  chromodomain-helicase-DNA-binding protein 6 isoform X1

    11. XM_011529082.3XP_011527384.1  chromodomain-helicase-DNA-binding protein 6 isoform X9

      Conserved Domains (2) summary
      smart00592
      Location:17251760
      BRK; domain in transcription and CHROMO domain helicases
      pfam00271
      Location:106220
      Helicase_C; Helicase conserved C-terminal domain
    12. XM_005260576.5XP_005260633.1  chromodomain-helicase-DNA-binding protein 6 isoform X11

      Conserved Domains (1) summary
      cl02688
      Location:10511086
      BRK; BRK domain
    13. XM_017028102.2XP_016883591.1  chromodomain-helicase-DNA-binding protein 6 isoform X7

    14. XM_017028104.2XP_016883593.1  chromodomain-helicase-DNA-binding protein 6 isoform X8

    15. XM_047440551.1XP_047296507.1  chromodomain-helicase-DNA-binding protein 6 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      43133884..43350249 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324124.1XP_054180099.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    2. XM_054324120.1XP_054180095.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    3. XM_054324123.1XP_054180098.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    4. XM_054324125.1XP_054180100.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    5. XM_054324126.1XP_054180101.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    6. XM_054324121.1XP_054180096.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    7. XM_054324129.1XP_054180104.1  chromodomain-helicase-DNA-binding protein 6 isoform X5

    8. XM_054324119.1XP_054180094.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    9. XM_054324122.1XP_054180097.1  chromodomain-helicase-DNA-binding protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYQ0, Q5TGZ9, Q5TH00, Q5TH01, Q8IZR2, Q8TD26, Q8WTY0, Q9H4H6, Q9H6D4, Q9NTT7, Q9P2L1
    10. XM_054324130.1XP_054180105.1  chromodomain-helicase-DNA-binding protein 6 isoform X6

    11. XM_054324127.1XP_054180102.1  chromodomain-helicase-DNA-binding protein 6 isoform X3

    12. XM_054324128.1XP_054180103.1  chromodomain-helicase-DNA-binding protein 6 isoform X4

    13. XM_054324118.1XP_054180093.1  chromodomain-helicase-DNA-binding protein 6 isoform X1

    14. XM_054324133.1XP_054180108.1  chromodomain-helicase-DNA-binding protein 6 isoform X9

    15. XM_054324135.1XP_054180110.1  chromodomain-helicase-DNA-binding protein 6 isoform X11

    16. XM_054324131.1XP_054180106.1  chromodomain-helicase-DNA-binding protein 6 isoform X7

    17. XM_054324132.1XP_054180107.1  chromodomain-helicase-DNA-binding protein 6 isoform X8

    18. XM_054324134.1XP_054180109.1  chromodomain-helicase-DNA-binding protein 6 isoform X10