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    CHD5 chromodomain helicase DNA binding protein 5 [ Homo sapiens (human) ]

    Gene ID: 26038, updated on 22-Apr-2017
    Official Symbol
    CHD5provided by HGNC
    Official Full Name
    chromodomain helicase DNA binding protein 5provided by HGNC
    Primary source
    HGNC:HGNC:16816
    See related
    Ensembl:ENSG00000116254 MIM:610771; Vega:OTTHUMG00000000952
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHD-5
    Summary
    This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]
    Orthologs
    Location:
    1p36.31
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (6101787..6180134, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6161847..6240194, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 4689 Neighboring gene nephrocystin 4 Neighboring gene potassium voltage-gated channel subfamily A regulatory beta subunit 2 Neighboring gene uncharacterized LOC105376687 Neighboring gene uncharacterized LOC107985733 Neighboring gene uncharacterized LOC102724450 Neighboring gene ribosomal protein L22 Neighboring gene ring finger protein 207

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: RPL22

    Homology

    Clone Names

    • KIAA0444, DKFZp434N231

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    H3K27me3 modified histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cerebral cortex neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone H3-K27 trimethylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone H4 acetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of signal transduction by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription involved in cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatogenesis, exchange of chromosomal proteins ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    NuRD complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    heterochromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    chromodomain-helicase-DNA-binding protein 5
    Names
    ATP-dependent helicase CHD5
    NP_056372.1

    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.

    mRNA and Protein(s)

    1. NM_015557.2NP_056372.1  chromodomain-helicase-DNA-binding protein 5

      See identical proteins and their annotated locations for NP_056372.1

      Status: VALIDATED

      Source sequence(s)
      AF425231, AL035406, AW005809
      Consensus CDS
      CCDS57.1
      UniProtKB/Swiss-Prot
      Q8TDI0
      Related
      ENSP00000262450.3, OTTHUMP00000001137, ENST00000262450.7, OTTHUMT00000002823
      Conserved Domains (10) summary
      smart00298
      Location:592625
      CHROMO; Chromatin organization modifier domain
      cd00046
      Location:720878
      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.
      cd15531
      Location:345387
      PHD1_CHD_II; PHD finger 1 found in class II Chromodomain-Helicase-DNA binding (CHD) proteins
      cd15532
      Location:418460
      PHD2_CHD_II; PHD finger 2 found in class II Chromodomain-Helicase-DNA binding (CHD) proteins
      pfam00176
      Location:703999
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:10231138
      Helicase_C; Helicase conserved C-terminal domain
      pfam06461
      Location:13881529
      DUF1086; Domain of Unknown Function (DUF1086)
      pfam06465
      Location:12981358
      DUF1087; Domain of Unknown Function (DUF1087)
      pfam08073
      Location:150199
      CHDNT; CHDNT (NUC034) domain
      pfam08074
      Location:17321903
      CHDCT2; CHDCT2 (NUC038) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      6101787..6180134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      6150226..6228570 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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