SEC31A explained

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.

Halperin-Birk syndrome (HLBKS), a rare autosomal recessive neurodevelopmental disorder, is caused by a null mutation in the SEC31A gene.^[4]

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–174 . January 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–156 . October 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Kim JH, Hong JA, Pih KT, Hwang I . Identification and isolation of differentially expressed genes in osmotically stressed human oral keratinocytes . Archives of Oral Biology . 46 . 4 . 335–341 . April 2001 . 11269867 . 10.1016/S0003-9969(00)00133-3 .
• Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K . 6 . 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 . 12107410 .
• Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J . Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides . Nature Biotechnology . 21 . 5 . 566–569 . May 2003 . 12665801 . 10.1038/nbt810 . 23783563 .
• Loïodice I, Alves A, Rabut G, Van Overbeek M, Ellenberg J, Sibarita JB, Doye V . 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 . 15146057 . 452587 . 10.1091/mbc.E03-12-0878 .
• Panagopoulos I, Nilsson T, Domanski HA, Isaksson M, Lindblom P, Mertens F, Mandahl N . Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor . International Journal of Cancer . 118 . 5 . 1181–1186 . March 2006 . 16161041 . 10.1002/ijc.21490 . 6860211 . free .
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S . 6 . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Research . 16 . 1 . 55–65 . January 2006 . 16344560 . 1356129 . 10.1101/gr.4039406 .
• Stagg SM, Gürkan C, Fowler DM, LaPointe P, Foss TR, Potter CS, Carragher B, Balch WE . 6 . Structure of the Sec13/31 COPII coat cage . Nature . 439 . 7073 . 234–238 . January 2006 . 16407955 . 10.1038/nature04339 . 2006Natur.439..234S . 2426465 .
• Yamasaki A, Tani K, Yamamoto A, Kitamura N, Komada M . 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 . 16957052 . 1635383 . 10.1091/mbc.E06-05-0444 .
• Shibata H, Suzuki H, Yoshida H, Maki M . 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 . 17196169 . 10.1016/j.bbrc.2006.12.101 .
• la Cour JM, Mollerup J, Berchtold MW . ALG-2 oscillates in subcellular localization, unitemporally with calcium oscillations . Biochemical and Biophysical Research Communications . 353 . 4 . 1063–1067 . February 2007 . 17214967 . 10.1016/j.bbrc.2006.12.143 .

Notes and References

1. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . 6 . 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 . 10048485 . 10.1093/dnares/5.6.355 . free .
2. Tang BL, Zhang T, Low DY, Wong ET, Horstmann H, Hong W . 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 . 10788476 . 10.1074/jbc.275.18.13597 . free .
3. Web site: Entrez Gene: SEC31A SEC31 homolog A (S. cerevisiae).
4. Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS . 6 . SEC31A mutation affects ER homeostasis, causing a neurological syndrome . Journal of Medical Genetics . 56 . 3 . 139–148 . March 2019 . 30464055 . 10.1136/jmedgenet-2018-105503 . 53717389 .