CBX1

Chromobox protein homolog 1 is a protein that in humans is encoded by the CBX1 gene.[5][6]

CBX1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCBX1, CBX, HP1-BETA, HP1Hs-beta, HP1Hsbeta, M31, MOD1, p25beta, chromobox 1
External IDsOMIM: 604511 MGI: 105369 HomoloGene: 89116 GeneCards: CBX1
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q21.32Start48,070,052 bp[1]
End48,101,478 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10951

12412

Ensembl

ENSG00000108468

ENSMUSG00000018666

UniProt

P83916

P83917

RefSeq (mRNA)

NM_006807
NM_001127228

NM_007622
NM_001362560
NM_001362561
NM_001362563
NM_001362564

RefSeq (protein)

NP_001120700
NP_006798

NP_031648
NP_001349489
NP_001349490
NP_001349492
NP_001349493

Location (UCSC)Chr 17: 48.07 – 48.1 MbChr 11: 96.79 – 96.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

The protein is localized at heterochromatin sites, where it mediates gene silencing.[6]

Model organisms

Model organisms have been used in the study of CBX1 function. A conditional knockout mouse line, called Cbx1tm1a(EUCOMM)Wtsi[10][11] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty two tests were carried out and two phenotypes were reported. No homozygous mutant animals survived until two weeks of age, therefore the remaining tests were carried out on heterozygous mutant mice. Male heterozygotes showed increased VO2, rate of elimination of carbon dioxide, and energy expenditure as determined by indirect calorimetry.[8]

Interactions

CBX1 has been shown to interact with:

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000108468 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000018666 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Furuta K, Chan EK, Kiyosawa K, Reimer G, Luderschmidt C, Tan EM (Jun 1997). "Heterochromatin protein HP1Hsbeta (p25beta) and its localization with centromeres in mitosis". Chromosoma. 106 (1): 11–9. doi:10.1007/s004120050219. PMID 9169582. S2CID 33460511.
  6. "Entrez Gene: CBX1 chromobox homolog 1 (HP1 beta homolog Drosophila )".
  7. "Indirect calorimetry data for Cbx1". Wellcome Trust Sanger Institute.
  8. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  9. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. "International Knockout Mouse Consortium". Archived from the original on 2012-03-20. Retrieved 2012-01-05.
  11. "Mouse Genome Informatics".
  12. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  13. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. S2CID 39281705.
  14. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  15. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
  16. Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T (Nov 2003). "EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer". Cell. 115 (5): 523–35. doi:10.1016/s0092-8674(03)00930-9. PMID 14651845. S2CID 18911371.
  17. Nielsen AL, Oulad-Abdelghani M, Ortiz JA, Remboutsika E, Chambon P, Losson R (Apr 2001). "Heterochromatin formation in mammalian cells: interaction between histones and HP1 proteins". Molecular Cell. 7 (4): 729–39. doi:10.1016/S1097-2765(01)00218-0. PMID 11336697.
  18. Aagaard L, Laible G, Selenko P, Schmid M, Dorn R, Schotta G, Kuhfittig S, Wolf A, Lebersorger A, Singh PB, Reuter G, Jenuwein T (Apr 1999). "Functional mammalian homologues of the Drosophila PEV-modifier Su(var)3-9 encode centromere-associated proteins which complex with the heterochromatin component M31". The EMBO Journal. 18 (7): 1923–38. doi:10.1093/emboj/18.7.1923. PMC 1171278. PMID 10202156.

Further reading

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