Biology:SEC31A
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Protein transport protein Sec31A is a protein that in humans is encoded by the SEC31A gene.[1][2][3]
The protein encoded by this gene is similar to the SEC31 protein from yeast. The yeast SEC31 protein is known to be a component of the COPII protein complex, which is responsible for vesicle budding from endoplasmic reticulum (ER). This protein was found to colocalize with SEC13, one of the other components of COPII, in the subcellular structures corresponding to the vesicle transport function. An immunodepletion experiment confirmed that this protein is required for ER-Golgi transport. Alternative splicing results in multiple transcript variants encoding different isoforms.[3]
Halperin-Birk syndrome (HLBKS), a rare autosomal recessive neurodevelopmental disorder, is caused by a null mutation in the SEC31A gene.[4]
References
- ↑ "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research 5 (6): 355–364. December 1998. doi:10.1093/dnares/5.6.355. PMID 10048485.
- ↑ "Mammalian homologues of yeast sec31p. An ubiquitously expressed form is localized to endoplasmic reticulum (ER) exit sites and is essential for ER-Golgi transport". The Journal of Biological Chemistry 275 (18): 13597–13604. May 2000. doi:10.1074/jbc.275.18.13597. PMID 10788476.
- ↑ 3.0 3.1 "Entrez Gene: SEC31A SEC31 homolog A (S. cerevisiae)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22872.
- ↑ "SEC31A mutation affects ER homeostasis, causing a neurological syndrome". Journal of Medical Genetics 56 (3): 139–148. March 2019. doi:10.1136/jmedgenet-2018-105503. PMID 30464055.
Further reading
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. January 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. October 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Identification and isolation of differentially expressed genes in osmotically stressed human oral keratinocytes". Archives of Oral Biology 46 (4): 335–341. April 2001. doi:10.1016/S0003-9969(00)00133-3. PMID 11269867.
- "Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants". Molecular Vision 8: 205–220. June 2002. PMID 12107410.
- "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology 21 (5): 566–569. May 2003. doi:10.1038/nbt810. PMID 12665801.
- "The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis". Molecular Biology of the Cell 15 (7): 3333–3344. July 2004. doi:10.1091/mbc.E03-12-0878. PMID 15146057.
- "Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor". International Journal of Cancer 118 (5): 1181–1186. March 2006. doi:10.1002/ijc.21490. PMID 16161041.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research 16 (1): 55–65. January 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "Structure of the Sec13/31 COPII coat cage". Nature 439 (7073): 234–238. January 2006. doi:10.1038/nature04339. PMID 16407955. Bibcode: 2006Natur.439..234S.
- "The Ca2+-binding protein ALG-2 is recruited to endoplasmic reticulum exit sites by Sec31A and stabilizes the localization of Sec31A". Molecular Biology of the Cell 17 (11): 4876–4887. November 2006. doi:10.1091/mbc.E06-05-0444. PMID 16957052.
- "ALG-2 directly binds Sec31A and localizes at endoplasmic reticulum exit sites in a Ca2+-dependent manner". Biochemical and Biophysical Research Communications 353 (3): 756–763. February 2007. doi:10.1016/j.bbrc.2006.12.101. PMID 17196169.
- "ALG-2 oscillates in subcellular localization, unitemporally with calcium oscillations". Biochemical and Biophysical Research Communications 353 (4): 1063–1067. February 2007. doi:10.1016/j.bbrc.2006.12.143. PMID 17214967.
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