Cbx1 chromobox 1 [Mus musculus (house mouse)] - Gene

Summary

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, Nov 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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Title: Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Role of HP1beta during spermatogenesis and DNA replication.
Title: Role of HP1β during spermatogenesis and DNA replication.
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.
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.
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.
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.
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.
SUV39h1 associated with HP1 beta in fibrillarin-positive nucleolar regions.
Title: SUV39h-independent association of HP1 beta with fibrillarin-positive nucleolar regions.
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.
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)

Endonuclease-mediated (1)
Gene trapped (1) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cbx1 (e-PCR), detects polymorphism
- UniSTS:256819

Cbx1 (e-PCR), detects polymorphism
- UniSTS:506782

Cbx1 (e-PCR), detects polymorphism
- UniSTS:141250

RH135339 (e-PCR)
- UniSTS:218616

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)

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
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
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
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. ...
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

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

96679506..96699808

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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