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Protein transport protein Sec31A is a protein that in humans is encoded by the SEC31A gene.[5][6][7]
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.[7]
Halperin-Birk syndrome (HLBKS), a rare autosomal recessive neurodevelopmental disorder, is caused by a null mutation in the SEC31A gene.[8]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000138674 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035325 – 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.
- ^ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, et al. (December 1998). "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. doi:10.1093/dnares/5.6.355. PMID 10048485.
- ^ Tang BL, Zhang T, Low DY, Wong ET, Horstmann H, Hong W (May 2000). "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. doi:10.1074/jbc.275.18.13597. PMID 10788476.
- ^ a b "Entrez Gene: SEC31A SEC31 homolog A (S. cerevisiae)".
- ^ Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, et al. (March 2019). "SEC31A mutation affects ER homeostasis, causing a neurological syndrome". Journal of Medical Genetics. 56 (3): 139–148. doi:10.1136/jmedgenet-2018-105503. PMID 30464055. S2CID 53717389.
Further reading
[edit]- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Kim JH, Hong JA, Pih KT, Hwang I (April 2001). "Identification and isolation of differentially expressed genes in osmotically stressed human oral keratinocytes". Archives of Oral Biology. 46 (4): 335–341. doi:10.1016/S0003-9969(00)00133-3. PMID 11269867.
- Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW, et al. (June 2002). "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. PMID 12107410.
- Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (May 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology. 21 (5): 566–569. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
- Loïodice I, Alves A, Rabut G, Van Overbeek M, Ellenberg J, Sibarita JB, Doye V (July 2004). "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. doi:10.1091/mbc.E03-12-0878. PMC 452587. PMID 15146057.
- Panagopoulos I, Nilsson T, Domanski HA, Isaksson M, Lindblom P, Mertens F, Mandahl N (March 2006). "Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor". International Journal of Cancer. 118 (5): 1181–1186. doi:10.1002/ijc.21490. PMID 16161041. S2CID 6860211.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Stagg SM, Gürkan C, Fowler DM, LaPointe P, Foss TR, Potter CS, et al. (January 2006). "Structure of the Sec13/31 COPII coat cage". Nature. 439 (7073): 234–238. Bibcode:2006Natur.439..234S. doi:10.1038/nature04339. PMID 16407955. S2CID 2426465.
- Yamasaki A, Tani K, Yamamoto A, Kitamura N, Komada M (November 2006). "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. doi:10.1091/mbc.E06-05-0444. PMC 1635383. PMID 16957052.
- Shibata H, Suzuki H, Yoshida H, Maki M (February 2007). "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. doi:10.1016/j.bbrc.2006.12.101. PMID 17196169.
- la Cour JM, Mollerup J, Berchtold MW (February 2007). "ALG-2 oscillates in subcellular localization, unitemporally with calcium oscillations". Biochemical and Biophysical Research Communications. 353 (4): 1063–1067. doi:10.1016/j.bbrc.2006.12.143. PMID 17214967.
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