SEC24A
SEC24 family, member A (S. cerevisiae) is a protein that in humans is encoded by the SEC24A gene.[5] The protein belongs to a protein family that are homologous to yeast Sec24.[6] It is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum.[5]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| 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 | Abnormal[7] |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Tail epidermis wholemount | Normal |
| Skin Histopathology | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[8] |
| Citrobacter infection | Normal[9] |
| All tests and analysis from[10][11] |
Model organisms have been used in the study of SEC24A function. A conditional knockout mouse line, called Sec24atm1a(KOMP)Wtsi[12][13] 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.[14][15][16]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty five tests were carried out on mutant mice and one significant abnormality was observed.[10] Male homozygotes had decreased circulating cholesterol and LDL cholesterol levels.[10]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000113615 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036391 - Ensembl, May 2017
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 "SEC24 family, member A (S. cerevisiae)". Retrieved 2011-12-05.
- ↑ Tang BL, Kausalya J, Low DY, Lock ML, Hong W (May 1999). "A family of mammalian proteins homologous to yeast Sec24p". Biochemical and Biophysical Research Communications. 258 (3): 679–84. doi:10.1006/bbrc.1999.0574. PMID 10329445.
- ↑ "Clinical chemistry data for Sec24a". Wellcome Trust Sanger Institute.
- ↑ "Salmonella infection data for Sec24a". Wellcome Trust Sanger Institute.
- ↑ "Citrobacter infection data for Sec24a". Wellcome Trust Sanger Institute.
- 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.
- ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ↑ "International Knockout Mouse Consortium".
- ↑ "Mouse Genome Informatics".
- ↑ 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 (June 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.
- ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ↑ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ van der Weyden L, White JK, Adams DJ, Logan DW (June 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
- Mancias JD, Goldberg J (May 2007). "The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope". Molecular Cell. 26 (3): 403–14. doi:10.1016/j.molcel.2007.03.017. PMID 17499046.
- Wendeler MW, Paccaud JP, Hauri HP (March 2007). "Role of Sec24 isoforms in selective export of membrane proteins from the endoplasmic reticulum". EMBO Reports. 8 (3): 258–64. doi:10.1038/sj.embor.7400893. PMC 1808030. PMID 17255961.
- Kirchhausen T (December 2000). "Three ways to make a vesicle". Nature Reviews. Molecular Cell Biology. 1 (3): 187–98. doi:10.1038/35043117. PMID 11252894.