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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSEC24A, SEC24 homolog A, COPII coat complex component
External IDsOMIM: 607183 MGI: 1924621 HomoloGene: 70131 GeneCards: SEC24A
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q31.1Start134,648,785 bp[1]
End134,727,909 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 11: 51.69 – 51.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Model organisms

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. 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. S2CID 85911512.
  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. S2CID 18872015.
  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

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