• Gene id: 10951

Gene Summary

• Gene Symbol: CBX1   Gene   UCSC   Ensembl
• Aliases: CBX, HP1-BETA, HP1Hs-beta, HP1Hsbeta, M31, MOD1, p25beta
• Gene name: chromobox 1
• Alternate names: chromobox protein homolog 1, HP1 beta homolog, chromobox homolog 1 (HP1 beta homolog Drosophila ), heterochromatin protein 1 homolog beta, heterochromatin protein 1-beta, heterochromatin protein p25 beta, modifier 1 protein,
• Gene location: 17q21.32 (48101477: 48070058)     Exons: 6     NC_000017.11
• Gene summary(Entrez): 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 b
• OMIM: 604511

Protein Summary

• Protein general information: P83916  
  • Name: Chromobox protein homolog 1 (HP1Hsbeta) (Heterochromatin protein 1 homolog beta) (HP1 beta) (Heterochromatin protein p25) (M31) (Modifier 1 protein) (p25beta)
  • Length: 185  
  • Mass: 21418
  • Tissue specificity: Expressed in all adult and embryonic tissues.
• Sequence:

  MGKKQNKKKVEEVLEEEEEEYVVEKVLDRRVVKGKVEYLLKWKGFSDEDNTWEPEENLDCPDLIAEFLQSQKTAH
  ETDKSEGGKRKADSDSEDKGEESKPKKKKEESEKPRGFARGLEPERIIGATDSSGELMFLMKWKNSDEADLVPAK
  EANVKCPQVVISFYEERLTWHSYPSEDDDKKDDKN

• Structural information:
  • Protein Domains: (21..7-)
    (/note="Chromo-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053-)
    (117..17-)
    (/note="Chromo-)
    (subtype-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053"-)
  • Interpro: IPR016197  IPR000953  IPR017984  IPR023780  IPR008251   IPR023779  
  • Prosite: PS00598 PS50013
  • PDB: 2FMM 3F2U 3Q6S 5T1G 6D07 6D08
  • PDBsum: 2FMM 3F2U 3Q6S 5T1G 6D07 6D08
  • DIP: 28135
  • STRING: ENSP00000377060
• Other Databases: GeneCards:  CBX1  Malacards:  CBX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000785	chromatin	IDA	cellular component
GO:0000775	chromosome, centromeric region	IDA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0090734	site of DNA damage	IMP	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003682	chromatin binding	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005720	nuclear heterochromatin	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005721	pericentric heterochromatin	IEA	cellular component
GO:0010369	chromocenter	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0001939	female pronucleus	IEA	cellular component
GO:0001940	male pronucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990226	histone methyltransferase binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Prostate cancer	PMID:18436254
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881