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    CHD1 chromodomain helicase DNA binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 1105, updated on 25-May-2017
    Official Symbol
    CHD1provided by HGNC
    Official Full Name
    chromodomain helicase DNA binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:1915
    See related
    Ensembl:ENSG00000153922 MIM:602118; Vega:OTTHUMG00000162744
    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
    Summary
    The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    5q15-q21.1
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (98855204..98929014, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (98189689..98264522, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986435 Neighboring gene casein kinase 1 alpha 1 pseudogene 3 Neighboring gene uncharacterized LOC105379099 Neighboring gene RNA, U6 small nuclear 402, pseudogene Neighboring gene uncharacterized LOC100289230 Neighboring gene long intergenic non-protein coding RNA 2062 Neighboring gene ribosomal protein S9 pseudogene 3

    • 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?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog
    Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686E2337

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent DNA helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    methylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation by host of viral transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    chromodomain-helicase-DNA-binding protein 1
    Names
    ATP-dependent helicase CHD1
    CHD-1
    NP_001261.2
    XP_005271923.1
    XP_005271924.1
    XP_011541414.1
    XP_016864480.1
    XP_016864481.1

    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_001270.2NP_001261.2  chromodomain-helicase-DNA-binding protein 1

      See identical proteins and their annotated locations for NP_001261.2

      Status: REVIEWED

      Source sequence(s)
      AC022121, AF006513, AK094871, BM698633, BQ436172, CN277742
      Consensus CDS
      CCDS34204.1
      UniProtKB/Swiss-Prot
      O14646
      UniProtKB/TrEMBL
      B3KT33
      Related
      ENSP00000284049.3, ENST00000284049.7
      Conserved Domains (9) summary
      PHA03420
      Location:15901680
      PHA03420; E4 protein; Provisional
      cd00024
      Location:306355
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:500645
      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:484765
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:803902
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:390443
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam08648
      Location:15551657
      DUF1777; Protein of unknown function (DUF1777)
      pfam11496
      Location:718971
      HDA2-3; Class II histone deacetylase complex subunits 2 and 3
      pfam13907
      Location:14071498
      DUF4208; Domain of unknown function (DUF4208)

    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_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      98855204..98929014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543112.2XP_011541414.1  chromodomain-helicase-DNA-binding protein 1 isoform X3

      Conserved Domains (7) summary
      cd00024
      Location:306355
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:500645
      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:484765
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:803902
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:390443
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam11496
      Location:718971
      HDA2-3; Class II histone deacetylase complex subunits 2 and 3
      pfam13907
      Location:14071498
      DUF4208; Domain of unknown function (DUF4208)
    2. XM_005271867.4XP_005271924.1  chromodomain-helicase-DNA-binding protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005271924.1

      UniProtKB/Swiss-Prot
      O14646
      Related
      ENSP00000483667.1, OTTHUMP00000222625, ENST00000614616.4, OTTHUMT00000370295
      Conserved Domains (9) summary
      PHA03420
      Location:15901680
      PHA03420; E4 protein; Provisional
      cd00024
      Location:306355
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:500645
      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:484765
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:803902
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:390443
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam08648
      Location:15551657
      DUF1777; Protein of unknown function (DUF1777)
      pfam11496
      Location:718971
      HDA2-3; Class II histone deacetylase complex subunits 2 and 3
      pfam13907
      Location:14071498
      DUF4208; Domain of unknown function (DUF4208)
    3. XM_005271866.4XP_005271923.1  chromodomain-helicase-DNA-binding protein 1 isoform X1

      Conserved Domains (9) summary
      PHA03420
      Location:16781768
      PHA03420; E4 protein; Provisional
      cd00024
      Location:306355
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:500645
      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:484765
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:803902
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:390443
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam08648
      Location:16431745
      DUF1777; Protein of unknown function (DUF1777)
      pfam11496
      Location:718971
      HDA2-3; Class II histone deacetylase complex subunits 2 and 3
      pfam13907
      Location:14951586
      DUF4208; Domain of unknown function (DUF4208)
    4. XM_017008992.1XP_016864481.1  chromodomain-helicase-DNA-binding protein 1 isoform X4

    5. XM_017008991.1XP_016864480.1  chromodomain-helicase-DNA-binding protein 1 isoform X4

    RNA

    1. XR_001741986.1 RNA Sequence

    2. XR_427702.3 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      97623527..97694866 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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