CLUAP1

Clusterin associated protein 1, also known as CLUAP1, is a human gene.[5]

CLUAP1
Identifiers
Aliases	CLUAP1, CFAP22, FAP22, IFT38, clusterin associated protein 1
External IDs	OMIM: 616787 MGI: 1924029 HomoloGene: 14831 GeneCards: CLUAP1
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 3,500,976 bp[1] End 3,539,048 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 A1 Start 3,908,801 bp[2] End 3,941,147 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • intraciliary transport particle B • centrosome • cell projection • ciliary tip • intracellular membrane-bounded organelle • cell nucleus • nucleoplasm • cilium Biological process • cell projection organization • intraciliary transport involved in cilium assembly • cilium morphogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23059	76779
Ensembl	ENSG00000103351	ENSMUSG00000014232
UniProt	Q96AJ1	Q8R3P7
RefSeq (mRNA)	NM_015041 NM_024793 NM_001330454	NM_029738
RefSeq (protein)	NP_001317383 NP_055856 NP_079069	NP_084014
Location (UCSC)	Chr 16: 3.5 – 3.54 Mb	Chr 16: 3.91 – 3.94 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Cluap1 knockout mouse phenotype

Characteristic	Phenotype
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	Abnormal[6]
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Abnormal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Normal[7]
Citrobacter infection	Normal[8]
All tests and analysis from[9][10]

Model organisms have been used in the study of CLUAP1 function. A conditional knockout mouse line, called Cluap1^{tm1a(KOMP)Wtsi}[11][12] 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.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty six tests were carried out on mutant mice and four significant abnormalities were observed.[9] 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; both sexes had decreased IgG1 levels while males also displayed abnormal spine curvature resulting in kyphosis.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000103351 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000014232 - 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. "Entrez Gene: clusterin associated protein 1". Retrieved 2011-08-30.
6. "Radiography data for Cluap1". Wellcome Trust Sanger Institute.
7. "Salmonella infection data for Cluap1". Wellcome Trust Sanger Institute.
8. "Citrobacter infection data for Cluap1". Wellcome Trust Sanger Institute.
9. 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.
10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
11. "International Knockout Mouse Consortium". Archived from the original on 2012-05-29. Retrieved 2012-02-14.
12. "Mouse Genome Informatics".
13. 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.
14. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
15. 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.
16. 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.

External links

• Human CLUAP1 genome location and CLUAP1 gene details page in the UCSC Genome Browser.

Further reading

• Rual JF, Venkatesan K, Hao T (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514.
• Follit JA, Xu F, Keady BT, Pazour GJ (2009). "Characterization of mouse IFT complex B". Cell Motility and the Cytoskeleton. 66 (8): 457–68. doi:10.1002/cm.20346. PMC 2753169. PMID 19253336.
• Gerhard DS, Wagner L, Feingold EA (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Research. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nature Genetics. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences USA. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ishikawa K, Nagase T, Suyama M (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
• Takahashi M, Lin YM, Nakamura Y, Furukawa Y (2004). "Isolation and characterization of a novel gene CLUAP1 whose expression is frequently upregulated in colon cancer". Oncogene. 23 (57): 9289–94. doi:10.1038/sj.onc.1208100. PMID 15480429.
• Ishikura H, Ikeda H, Abe H (2007). "Identification of CLUAP1 as a human osteosarcoma tumor-associated antigen recognized by the humoral immune system". International Journal of Oncology. 30 (2): 461–7. doi:10.3892/ijo.30.2.461 (inactive 2020-05-21). PMID 17203229.