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    CBX5 chromobox 5 [ Homo sapiens (human) ]

    Gene ID: 23468, updated on 9-Jul-2017
    Official Symbol
    CBX5provided by HGNC
    Official Full Name
    chromobox 5provided by HGNC
    Primary source
    HGNC:HGNC:1555
    See related
    Ensembl:ENSG00000094916 MIM:604478; Vega:OTTHUMG00000169700
    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
    HP1; HP1A; HEL25
    Summary
    This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    12q13.13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (54230946..54280131, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54624730..54673915, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene single-strand-selective monofunctional uracil-DNA glycosylase 1 Neighboring gene uncharacterized LOC105369777 Neighboring gene microRNA 3198-2 Neighboring gene RNA, 7SL, cytoplasmic 390, pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein A1 Neighboring gene nuclear factor, erythroid 2

    • 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?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat is recruited by CTIP2 into a complex with HP1alpha, leading to the relocalization of Tat and inactivation of Tat-mediated transactivation of the HIV-1 LTR promoter PubMed
    Vpr vpr HIV-1 Vpr actively recruits p300/HAT to a range of chromatin regions including the centromere, resulting in the displacement of HP1-alpha PubMed
    vpr HIV-1 Vpr interferes with the heterochromatin structure by displacing HP1-alpha and HP1-gamma proteins in interphase, which leads to relocalization of the centromere chromatin proteins Mis12, Sgo1, and CPC after prophase PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    histone deacetylase 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 
    protein binding, bridging ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    repressing transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with PML body IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromocenter IEA
    Inferred from Electronic Annotation
    more info
     
    histone deacetylase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone methyltransferase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear heterochromatin TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear pericentric heterochromatin NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pericentric heterochromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcriptional repressor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    chromobox protein homolog 5
    Names
    HP1 alpha homolog
    HP1-ALPHA
    HP1Hs alpha
    antigen p25
    chromobox homolog 5 (HP1 alpha homolog, Drosophila)
    epididymis luminal protein 25
    heterochromatin protein 1 homolog alpha
    heterochromatin protein 1-alpha

    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_001127321.1NP_001120793.1  chromobox protein homolog 5

      See identical proteins and their annotated locations for NP_001120793.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC078778, BC006821, BC030149, BP236173
      Consensus CDS
      CCDS8875.1
      UniProtKB/Swiss-Prot
      P45973
      UniProtKB/TrEMBL
      V9HWG0
      Related
      ENSP00000401009.2, OTTHUMP00000241879, ENST00000439541.6, OTTHUMT00000405468
      Conserved Domains (2) summary
      pfam00385
      Location:2169
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam01393
      Location:122173
      Chromo_shadow; Chromo shadow domain
    2. NM_001127322.1NP_001120794.1  chromobox protein homolog 5

      See identical proteins and their annotated locations for NP_001120794.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC078778, AK313506, BC030149, DT217255
      Consensus CDS
      CCDS8875.1
      UniProtKB/Swiss-Prot
      P45973
      UniProtKB/TrEMBL
      V9HWG0
      Related
      ENSP00000449207.1, OTTHUMP00000241881, ENST00000550411.5, OTTHUMT00000405471
      Conserved Domains (2) summary
      pfam00385
      Location:2169
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam01393
      Location:122173
      Chromo_shadow; Chromo shadow domain
    3. NM_012117.2NP_036249.1  chromobox protein homolog 5

      See identical proteins and their annotated locations for NP_036249.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC078778, BC030149, BP336150
      Consensus CDS
      CCDS8875.1
      UniProtKB/Swiss-Prot
      P45973
      UniProtKB/TrEMBL
      V9HWG0
      Related
      ENSP00000209875.4, OTTHUMP00000241878, ENST00000209875.8, OTTHUMT00000405467
      Conserved Domains (2) summary
      pfam00385
      Location:2169
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam01393
      Location:122173
      Chromo_shadow; Chromo shadow 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_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      54230946..54280131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      54591455..54640653 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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