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]

SEC24A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2NUP, 2NUT, 3EGD, 3EGX
Identifiers
Aliases	SEC24A, SEC24 homolog A, COPII coat complex component
External IDs	OMIM: 607183 MGI: 1924621 HomoloGene: 70131 GeneCards: SEC24A
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.1 Start 134,648,785 bp[1] End 134,727,909 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B1.3 Start 51,692,264 bp[2] End 51,763,634 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • zinc ion binding • metal ion binding Cellular component • cytoplasm • endoplasmic reticulum membrane • membrane • Golgi membrane • endoplasmic reticulum • COPII vesicle coat • cytosol • ER to Golgi transport vesicle membrane • cytoplasmic vesicle Biological process • antigen processing and presentation of exogenous peptide antigen via MHC class II • antigen processing and presentation of peptide antigen via MHC class I • regulation of low-density lipoprotein particle receptor biosynthetic process • COPII vesicle coating • positive regulation of protein secretion • protein transport • intracellular protein transport • vesicle-mediated transport • ER to Golgi vesicle-mediated transport • cargo loading into COPII-coated vesicle • cholesterol homeostasis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10802	77371
Ensembl	ENSG00000113615	ENSMUSG00000036391
UniProt	O95486	Q3U2P1
RefSeq (mRNA)	NM_001252231 NM_021982	NM_001290785 NM_175255
RefSeq (protein)	NP_001239160 NP_068817	NP_001277714 NP_780464
Location (UCSC)	Chr 5: 134.65 – 134.73 Mb	Chr 11: 51.69 – 51.76 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Sec24a knockout mouse phenotype

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 Sec24a^{tm1a(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. GRCh38: Ensembl release 89: ENSG00000113615 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036391 - 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. "SEC24 family, member A (S. cerevisiae)". Retrieved 2011-12-05.
6. 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.
7. "Clinical chemistry data for Sec24a". Wellcome Trust Sanger Institute.
8. "Salmonella infection data for Sec24a". Wellcome Trust Sanger Institute.
9. "Citrobacter infection data for Sec24a". Wellcome Trust Sanger Institute.
10. 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.
11. Mouse Resources Portal, Wellcome Trust Sanger Institute.
12. "International Knockout Mouse Consortium".
13. "Mouse Genome Informatics".
14. 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.
15. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
16. 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.
17. 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.

External links

• PDBe-KB provides an overview of all the structure information available in the PDB for Human Protein transport protein Sec24A