NCAPH

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Identifiers
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External IDs| GeneCards: [1]
Orthologs
Species| Human| Mouse
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UniProt| |

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RefSeq (mRNA)| |

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Location (UCSC)| n/a| n/a
PubMed search| n/a| n/a
Wikidata
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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

## Contents

* 1 Function
* 2 Model organisms
* 3 References
* 4 Further reading

## Function

[edit | edit source]

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 | edit source]

Ncaph knockout mouse phenotype  Characteristic | Phenotype

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Homozygote viability | Abnormal
Recessive lethal study | Abnormal
Fertility | Normal
Body weight | Normal
Anxiety | Normal
Neurological assessment | Normal
Grip strength | Normal
Hot plate | Normal
Dysmorphology | Normal
Indirect calorimetry | Normal
Glucose tolerance test | Normal
Auditory brainstem response | Normal
DEXA | Normal
Radiography | Normal
Body temperature | Normal
Eye morphology | Normal
Clinical chemistry | Normal
Haematology | Normal
Peripheral blood lymphocytes | Normal
Micronucleus test | Normal
Heart weight | Normal
Skin Histopathology | Normal
Salmonella infection | Abnormal[3]
Citrobacter infection | Normal[4]
All tests and analysis from[5][6]

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 | edit source]

1. ↑ Cabello OA, Baldini A, Bhat M, Bellen H, Belmont JW (Dec 1997). "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. ↑ 2.0 2.1 "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. ↑ 5.0 5.1 5.2 5.3 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 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.
10. ↑ Dolgin E (Jun 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 (Jan 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 Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

## Further reading

[edit | edit source]

* Nomura N, Nagase T, Miyajima N, Sazuka T, Tanaka A, Sato S, Seki N, Kawarabayasi Y, Ishikawa K, Tabata S (1995). "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research. 1 (5): 223–9. doi:10.1093/dnares/1.5.223. PMID 7584044.
* Hirano T, Kobayashi R, Hirano M (May 1997). "Condensins, chromosome condensation protein complexes containing XCAP-C, XCAP-E and a Xenopus homolog of the Drosophila Barren protein". Cell. 89 (4): 511–21. doi:10.1016/S0092-8674(00)80233-0. PMID 9160743.
* Kimura K, Cuvier O, Hirano T (Feb 2001). "Chromosome condensation by a human condensin complex in Xenopus egg extracts". The Journal of Biological Chemistry. 276 (8): 5417–20. doi:10.1074/jbc.C000873200. PMID 11136719.
* Cabello OA, Eliseeva E, He WG, Youssoufian H, Plon SE, Brinkley BR, Belmont JW (Nov 2001). "Cell cycle-dependent expression and nucleolar localization of hCAP-H". Molecular Biology of the Cell. 12 (11): 3527–37. doi:10.1091/mbc.12.11.3527. PMC 60273. PMID 11694586.
* Heale JT, Ball AR, Schmiesing JA, Kim JS, Kong X, Zhou S, Hudson DF, Earnshaw WC, Yokomori K (Mar 2006). "Condensin I interacts with the PARP-1-XRCC1 complex and functions in DNA single-strand break repair". Molecular Cell. 21 (6): 837–48. doi:10.1016/j.molcel.2006.01.036. PMID 16543152.
* Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (Apr 2006). "Phosphoproteome analysis of the human mitotic spindle". Proceedings of the National Academy of Sciences of the United States of America. 103 (14): 5391–6. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
* Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (Oct 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.

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Structures of the cell nucleus / nuclear protein

Envelope (membrane)/
nuclear lamina|

* Pore complex:
* Nucleoporin
* NUP35
* NUP37
* NUP43
* NUP50
* NUP54
* NUP62
* NUP85
* NUP88
* NUP93
* NUP98
* NUP107
* NUP133
* NUP153
* NUP155
* NUP160
* NUP188
* NUP205
* NUP210
* NUP214
* AAAS

Nucleolus|

* Cajal (coiled) body
* SMN
* GEMIN2
* GEMIN4
* GEMIN5
* GEMIN6
* GEMIN7
* DDX20
* COIL
* Perinucleolar compartment
* PTBP1
* CUGBP1
* TCOF
* ATXN7

Other|

* Chromatin
* Dot (PML body)
* Paraspeckle

SMC protein:|

* Cohesin
* SMC1A
* SMC1B
* SMC3
* Condensin
* NCAPD2
* NCAPD3
* NCAPG
* NCAPG2
* NCAPH
* NCAPH2
* SMC2
* SMC4
* DNA repair
* SMC5
* SMC6

Transition nuclear protein:|

*     * TNP1
* TNP2

* Nuclear matrix (Nucleoskeleton)
* Nucleoplasm (Nucleosol)

* LITAF

* see also transcription factors and intracellular receptors

see also nucleus diseases
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