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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