SEC24A

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; OMA:SEC24A - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	134,727,909 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	51,654,461 bp
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; mucosa of sigmoid colon; ; oocyte; ; cartilage tissue; ; parotid gland; ; oral cavity; ; secondary oocyte; ; Epithelium of choroid plexus; ; tail of epididymis; ; tibia;
	Top expressed in
	epithelium of small intestine; ; seminal vesicula; ; left lobe of liver; ; migratory enteric neural crest cell; ; salivary gland; ; lacrimal gland; ; submandibular gland; ; body of femur; ; lobe of prostate; ; cumulus cell;
	More reference expression data
	n/a
Gene ontology
Molecular function	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; COPII vesicle coating; positive regulation of protein secretion; protein transport; intracellular protein transport; vesicle-mediated transport; endoplasmic reticulum to Golgi vesicle-mediated transport; COPII-coated vesicle cargo loading; cholesterol homeostasis;
	Sources:Amigo / QuickGO
Orthologs
	10802
	77371
	ENSG00000113615
	ENSMUSG00000036391
	O95486
	Q3U2P1
	NM_001252231; NM_021982
	NM_001290785; NM_175255
	NP_001239160; NP_068817
	NP_001277714; NP_780464
	Wikidata
View/Edit Human	View/Edit Mouse

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

*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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000113615 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036391 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "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.
^ ^a ^b ^c ^d 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. S2CID 85911512.
^ 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. S2CID 18872015.
^ 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

External links

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

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000113615 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-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.

[Clinical_chemistry-7] "Clinical chemistry data for Sec24a". Wellcome Trust Sanger Institute.

[''Salmonella''_infection-8] "Salmonella infection data for Sec24a". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-9] "Citrobacter infection data for Sec24a". Wellcome Trust Sanger Institute.

[mgp_reference-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. S2CID 85911512.

[11] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-12] "International Knockout Mouse Consortium".

[mgi_allele_ref-13] "Mouse Genome Informatics".

[pmid21677750-14] 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.

[mouse_library-15] Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-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. S2CID 18872015.

[pmid21722353-17] 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

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Model organisms

References

Further reading

External links