NCAPH

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Non-SMC condensin I complex, subunit H
Identifiers
Symbols NCAPH ; BRRN1; CAP-H
External IDs OMIM602332 MGI2444777 HomoloGene133986 GeneCards: NCAPH Gene
RNA expression pattern
PBB GE NCAPH 212949 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 23397 215387
Ensembl ENSG00000121152 ENSMUSG00000034906
UniProt Q15003 Q8C156
RefSeq (mRNA) NM_001281710 NM_144818
RefSeq (protein) NP_001268639 NP_659067
Location (UCSC) Chr 2:
97 – 97.04 Mb
Chr 2:
127.1 – 127.13 Mb
PubMed search [1] [2]

Condensin complex subunit 2 also known as chromosome-associated protein H (CAP-H) or non-SMC condensin I complex subunit H (NCAPH) is a protein that in humans is encoded by the NCAPH gene.[1][2] CAP-H is a subunit of condensin I, a large protein complex involved in chromosome condensation

Function[edit]

CAP-H is a member of the barr protein family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. CAP-H is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization.[2]

Model organisms[edit]

Model organisms have been used in the study of NCAPH function. A conditional knockout mouse line, called Ncaphtm1a(EUCOMM)Wtsi[7][8] 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.[9][10][11]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty four tests were carried out on mutant mice and three significant abnormalities were observed.[5] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and an increased susceptibility to bacterial infection was observed in male animals.[5]

References[edit]

  1. ^ Cabello OA, Baldini A, Bhat M, Bellen H, Belmont JW (Feb 1998). "Localization of BRRN1, the human homologue of Drosophila barr, to 2q11.2". Genomics 46 (2): 311–3. doi:10.1006/geno.1997.5021. PMID 9417923. 
  2. ^ a b "Entrez Gene: NCAPH non-SMC condensin I complex, subunit H". 
  3. ^ "Salmonella infection data for Ncaph". Wellcome Trust Sanger Institute. 
  4. ^ "Citrobacter infection data for Ncaph". Wellcome Trust Sanger Institute. 
  5. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  6. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  7. ^ "International Knockout Mouse Consortium". 
  8. ^ "Mouse Genome Informatics". 
  9. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  10. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  11. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  12. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]