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

Gene ID: 84181, updated on 27-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
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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
  • 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 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 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 DNA clamp loader activity IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 single-stranded 3'-5' DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
enables transcription coregulator binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
involved_in cell redox homeostasis 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 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)

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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.

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