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

Gene ID: 26038, updated on 9-Dec-2018

Summary

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
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]
Expression
Biased expression in brain (RPKM 14.5), testis (RPKM 9.9) and 1 other tissue See more
Orthologs

Genomic context

See CHD5 in Genome Data Viewer
Location:
1p36.31
Exon count:
42
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 protein GVQW2-like Neighboring gene uncharacterized LOC105376687 Neighboring gene uncharacterized LOC107985733 Neighboring gene uncharacterized LOC102724450 Neighboring gene ribosomal protein L22

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
H3K27me3 modified histone binding IDA
Inferred from Direct Assay
more info
PubMed 
helicase activity IEA
Inferred from Electronic Annotation
more info
 
metal 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
 
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 HDA 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 

General protein information

Preferred Names
chromodomain-helicase-DNA-binding protein 5
Names
ATP-dependent helicase CHD5
NP_056372.1

NCBI Reference Sequences (RefSeq)

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_015557.3NP_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, AL031847, AL035406, AW005809
    Consensus CDS
    CCDS57.1
    UniProtKB/Swiss-Prot
    Q8TDI0
    Related
    ENSP00000262450.3, ENST00000262450.7
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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