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    Cbx1 chromobox 1 [ Mus musculus (house mouse) ]

    Gene ID: 12412, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Cbx1provided by MGI
    Official Full Name
    chromobox 1provided by MGI
    Primary source
    MGI:MGI:105369
    See related
    Ensembl:ENSMUSG00000018666 AllianceGenome:MGI:105369
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cbx; M31; HP1B; MOD1; Cbx-rs2; Hp1beta; E430007M08Rik
    Summary
    Enables identical protein binding activity. Acts upstream of or within negative regulation of DNA-templated transcription. Located in chromocenter; pericentric heterochromatin; and pronucleus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Orthologous to human CBX1 (chromobox 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 39.9), CNS E14 (RPKM 17.9) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cbx1 in Genome Data Viewer
    Location:
    11 D; 11 60.11 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (96679506..96699808)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (96788680..96808982)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene src family associated phosphoprotein 1 Neighboring gene predicted gene, 38960 Neighboring gene STARR-seq mESC enhancer starr_30554 Neighboring gene STARR-seq mESC enhancer starr_30556 Neighboring gene STARR-seq mESC enhancer starr_30559 Neighboring gene STARR-seq mESC enhancer starr_30560 Neighboring gene STARR-positive B cell enhancer ABC_E1146 Neighboring gene STARR-seq mESC enhancer starr_30562 Neighboring gene STARR-seq mESC enhancer starr_30564 Neighboring gene sorting nexin 11 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_30565 Neighboring gene STARR-positive B cell enhancer ABC_E9144 Neighboring gene STARR-positive B cell enhancer ABC_E9371 Neighboring gene STARR-positive B cell enhancer ABC_E201 Neighboring gene nuclear factor, erythroid derived 2,-like 1 Neighboring gene microRNA 152 Neighboring gene coatomer protein complex, subunit zeta 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Dominant-negative variants in CBX1 cause a neurodevelopmental disorder. Kuroda Y, et al. Genet Med, 2023 Jul. PMID 37087635
    2. Structure of the chromatin binding (chromo) domain from mouse modifier protein 1. Ball LJ, et al. EMBO J, 1997 May 1. PMID 9171360, Free PMC Article
    3. The M31 gene has a complex developmentally regulated expression profile and may encode alternative protein products that possess diverse subcellular localisation patterns. Peterson K, et al. J Exp Zool, 1998 Mar 1. PMID 9493348
    4. Heterochromatin Protein 1β (HP1β) has distinct functions and distinct nuclear distribution in pluripotent versus differentiated cells. Mattout A, et al. Genome Biol, 2015 Sep 28. PMID 26415775, Free PMC Article
    5. Increased sex chromosome expression and epigenetic abnormalities in spermatids from male mice with Y chromosome deletions. Reynard LN, et al. J Cell Sci, 2009 Nov 15. PMID 19861498, Free PMC Article

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
      Title: Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
    2. Role of HP1beta during spermatogenesis and DNA replication.
      Title: Role of HP1β during spermatogenesis and DNA replication.
    3. Phosphorylation of the HP1beta hinge region sequesters KAP1 in heterochromatin and promotes the exit from naive pluripotency.
      Title: Phosphorylation of the HP1β hinge region sequesters KAP1 in heterochromatin and promotes the exit from naïve pluripotency.
    4. We demonstrate an unexpected duality in the role of HP1b: it is essential in ESCs for maintaining pluripotency, while it is required for proper differentiation in differentiated cells.
      Title: Heterochromatin Protein 1β (HP1β) has distinct functions and distinct nuclear distribution in pluripotent versus differentiated cells.
    5. The N-terminal portion of LBR is probably responsible for the binding to HP1b.
      Title: Intrabody-mediated diverting of HP1β to the cytoplasm induces co-aggregation of H3-H4 histones and lamin-B receptor.
    6. HP1b negatively regulates MMP2 expression in a transcriptional level and prevents MMP2 activation through reducing the expression of MT1MMP.
      Title: HP1β suppresses metastasis of human cancer cells by decreasing the expression and activation of MMP2.
    7. Study concludes that only the 53BP1 status in DNA lesions, induced by UVA or gamma-rays, is affected by A-type lamin deficiency, which was not observed for heterochromatin-related proteins HP1beta and BMI1.
      Title: Recruitment of HP1β to UVA-induced DNA lesions is independent of radiation-induced changes in A-type lamins.
    8. SUV39h1 associated with HP1 beta in fibrillarin-positive nucleolar regions.
      Title: SUV39h-independent association of HP1 beta with fibrillarin-positive nucleolar regions.
    9. HP1-beta is required for development of the cerebral neocortex and neuromuscular junctions
      Title: HP1-beta is required for development of the cerebral neocortex and neuromuscular junctions.
    10. HP1alpha and HP1beta proteins on the heterochromatin of transcriptionally active oocytes and their absence in transcriptionally silent oocytes suggest that they are necessary for the repression of RNA synthesis in heterochromatin domains.
      Title: Constitutive heterochromatin during mouse oogenesis: the pattern of histone H3 modifications and localization of HP1alpha and HP1beta proteins.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone methyltransferase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone methyltransferase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in heterochromatin formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromocenter IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromosome, centromeric region ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in female pronucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in male pronucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in pericentric heterochromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in pericentric heterochromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in site of DNA damage ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in site of DNA damage ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spindle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    chromobox protein homolog 1
    Names
    chromobox homolog 1
    heterochromatin protein 1 homolog beta
    heterochromatin protein p25
    modifier 1 protein

    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.

    mRNA and Protein(s)

    1. NM_001362560.1 → NP_001349489.1  chromobox protein homolog 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596384
      Consensus CDS
      CCDS25303.1
      UniProtKB/Swiss-Prot
      P83917
      Conserved Domains (2) summary
      cd18650
      Location:20 → 69
      CD_HP1beta_Cbx1; chromodomain of heterochromatin protein 1 homolog beta
      cd18654
      Location:112 → 169
      CSD_HP1beta_Cbx1; chromo shadow domain of heterochromatin protein 1 homolog beta

    2. NM_001362561.1 → NP_001349490.1  chromobox protein homolog 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596384
      Consensus CDS
      CCDS25303.1
      UniProtKB/Swiss-Prot
      P83917
      Conserved Domains (2) summary
      cd18650
      Location:20 → 69
      CD_HP1beta_Cbx1; chromodomain of heterochromatin protein 1 homolog beta
      cd18654
      Location:112 → 169
      CSD_HP1beta_Cbx1; chromo shadow domain of heterochromatin protein 1 homolog beta

    3. NM_001362563.1 → NP_001349492.1  chromobox protein homolog 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596384
      Consensus CDS
      CCDS25303.1
      UniProtKB/Swiss-Prot
      P83917
      Conserved Domains (2) summary
      cd18650
      Location:20 → 69
      CD_HP1beta_Cbx1; chromodomain of heterochromatin protein 1 homolog beta
      cd18654
      Location:112 → 169
      CSD_HP1beta_Cbx1; chromo shadow domain of heterochromatin protein 1 homolog beta

    4. NM_001362564.1 → NP_001349493.1  chromobox protein homolog 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK017608, AL596384
      Consensus CDS
      CCDS88236.1
      UniProtKB/TrEMBL
      Q9CYJ8
      Related
      ENSMUSP00000078640.4, ENSMUST00000079702.4
      Conserved Domains (2) summary
      pfam00385
      Location:27 → 70
      Chromo; Chromo (CHRromatin Organisation MOdifier) domain
      cl00044
      Location:111 → 139
      ChSh; Chromo Shadow Domain, found in association with N-terminal chromo (CHRromatin Organization MOdifier) domain; Chromo domains mediate the interaction of the heterochromatin with other heterochromatin proteins, thereby affecting chromatin structure (e.g. ...

    5. NM_007622.4 → NP_031648.1  chromobox protein homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_031648.1

      Status: VALIDATED

      Source sequence(s)
      AK014215, AL596384
      Consensus CDS
      CCDS25303.1
      UniProtKB/Swiss-Prot
      P83917
      Related
      ENSMUSP00000091475.4, ENSMUST00000093943.10
      Conserved Domains (2) summary
      cd18650
      Location:20 → 69
      CD_HP1beta_Cbx1; chromodomain of heterochromatin protein 1 homolog beta
      cd18654
      Location:112 → 169
      CSD_HP1beta_Cbx1; chromo shadow domain of heterochromatin protein 1 homolog beta

    RNA

    1. NR_155761.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL596384, BC055290
      Related
      ENSMUST00000134585.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      96679506..96699808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017314242.2 → XP_017169731.1  chromobox protein homolog 1 isoform X1

      UniProtKB/Swiss-Prot
      P83917
      Conserved Domains (2) summary
      cd18650
      Location:20 → 69
      CD_HP1beta_Cbx1; chromodomain of heterochromatin protein 1 homolog beta
      cd18654
      Location:112 → 169
      CSD_HP1beta_Cbx1; chromo shadow domain of heterochromatin protein 1 homolog beta

    2. XM_006532102.3 → XP_006532165.1  chromobox protein homolog 1 isoform X2

      Related
      ENSMUSP00000018810.4, ENSMUST00000018810.10
      Conserved Domains (2) summary
      cd18650
      Location:20 → 69
      CD_HP1beta_Cbx1; chromodomain of heterochromatin protein 1 homolog beta
      cl28914
      Location:112 → 137
      CD_CSD; CHROMO (CHRromatin Organization Modifier) domains and chromo shadow domains

    RNA

    1. XR_003949269.1 RNA Sequence

    2. XR_003949267.1 RNA Sequence

    3. XR_003949268.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P83917.1 GenPept UniProtKB/Swiss-Prot:P83917

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools