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Cbx1 chromobox 1 [ Mus musculus (house mouse) ]

Gene ID: 12412, updated on 21-Apr-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 transcription, DNA-templated. 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, Apr 2022]
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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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

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Role of HP1β during spermatogenesis and DNA replication. Charaka V, et al. Chromosoma, 2020 Dec. PMID 32651609
  2. 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
  3. 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
  4. HP1-beta is required for development of the cerebral neocortex and neuromuscular junctions. Aucott R, et al. J Cell Biol, 2008 Nov 17. PMID 19015315, Free PMC Article
  5. Molecular dynamics of heterochromatin protein 1beta, HP1beta, during mouse preimplantation development. Yamazaki T, et al. J Reprod Dev, 2007 Oct. PMID 17558186

See all (104) 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 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 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
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
part_of 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
  
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 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
  
part_of pericentric heterochromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of 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 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

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