Kaptin (actin binding protein)

KPTN
Identifiers
Aliases KPTN, 2E4, MRT41, kaptin (actin binding protein), kaptin, actin binding protein
External IDs MGI: 1890380 HomoloGene: 5127 GeneCards: KPTN
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

11133

70394

Ensembl

ENSG00000118162

ENSMUSG00000006021

UniProt

Q9Y664

Q8VCX6

RefSeq (mRNA)

NM_001291296
NM_007059

NM_133727

RefSeq (protein)

NP_001278225.1
NP_008990.2

n/a

Location (UCSC) Chr 19: 47.48 – 47.48 Mb Chr 7: 16.12 – 16.13 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Kaptin is a protein that in humans is encoded by the KPTN gene.[3][4]

Model organisms

Model organisms have been used in the study of KPTN function. A conditional knockout mouse line, called Kptntm1a(EUCOMM)Wtsi[14][15] 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.[16][17][18]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[12][19] Twenty two tests were carried out on mutant mice and six significant abnormalities were observed.[12] Homozygous mutant mice had hyperalbuminemia, decreased mature B cell numbers and increased susceptibility to bacterial infection. Female mice also had increased body weight, body fat and impaired glucose tolerance.[12]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Bearer EL, Abraham MT (Jul 1999). "2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear". Eur J Cell Biol. 78 (2): 117–26. doi:10.1016/s0171-9335(99)80013-2. PMID 10099934.
  4. "Entrez Gene: KPTN kaptin (actin binding protein)".
  5. "Body weight data for Kptn". Wellcome Trust Sanger Institute.
  6. "Glucose tolerance test data for Kptn". Wellcome Trust Sanger Institute.
  7. "DEXA data for Kptn". Wellcome Trust Sanger Institute.
  8. "Clinical chemistry data for Kptn". Wellcome Trust Sanger Institute.
  9. "Peripheral blood lymphocytes data for Kptn". Wellcome Trust Sanger Institute.
  10. "Salmonella infection data for Kptn". Wellcome Trust Sanger Institute.
  11. "Citrobacter infection data for Kptn". Wellcome Trust Sanger Institute.
  12. 1 2 3 4 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.
  13. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  14. "International Knockout Mouse Consortium".
  15. "Mouse Genome Informatics".
  16. 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 3572410Freely accessible. PMID 21677750.
  17. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  18. 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.
  19. 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 3218837Freely accessible. PMID 21722353.

Further reading


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