SEC31A

Protein transport protein Sec31A is a protein that in humans is encoded by the SEC31A gene.^[5][6][7]

SEC31A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3WXA
Identifiers
Aliases	SEC31A, ABP125, ABP130, HSPC334, SEC31L1, HSPC275, SEC31 homolog A, COPII coat complex component, NEDSOSB, HPBKS
External IDs	OMIM: 610257; MGI: 1916412; HomoloGene: 42056; GeneCards: SEC31A; OMA:SEC31A - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q21.22 Start 82,818,509 bp[1] End 82,901,166 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 E4 Start 100,509,508 bp[2] End 100,564,093 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa pancreatic ductal cell body of pancreas tibia Achilles tendon stromal cell of endometrium epithelium of colon periodontal fiber left ovary right ovary Top expressed in calvaria tail of embryo molar genital tubercle zygote duodenum yolk sac lip parotid gland secondary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding calcium-dependent protein binding structural molecule activity Cellular component COPII-coated ER to Golgi transport vesicle cytoplasmic vesicle ER to Golgi transport vesicle membrane intracellular membrane-bounded organelle perinuclear region of cytoplasm membrane endoplasmic reticulum cytoplasm endoplasmic reticulum exit site endoplasmic reticulum membrane vesicle coat Golgi membrane cytosol COPII vesicle coat Biological process IRE1-mediated unfolded protein response response to calcium ion COPII vesicle coating vesicle-mediated transport antigen processing and presentation of exogenous peptide antigen via MHC class II protein transport antigen processing and presentation of peptide antigen via MHC class I endoplasmic reticulum to Golgi vesicle-mediated transport COPII-coated vesicle cargo loading intracellular protein transport COPII-coated vesicle budding endoplasmic reticulum organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 22872 69162 Ensembl ENSG00000138674 ENSMUSG00000035325 UniProt O94979 Q3UPL0 RefSeq (mRNA) NM_001077206 NM_001077207 NM_001077208 NM_001191049 NM_001300744 NM_001300745 NM_014933 NM_016211 NM_001318119 NM_001318120 NM_026969 NM_001359323 NM_001359332 NM_001359344 NM_001359348 NM_001359349 NM_001359350 NM_001400516 NM_001400517 RefSeq (protein) NP_001070674 NP_001070675 NP_001070676 NP_001177978 NP_001287673 NP_001287674 NP_001305048 NP_001305049 NP_057295 NP_081245 NP_001346252 NP_001346261 NP_001346273 NP_001346277 NP_001346278 NP_001346279 NP_001387445 NP_001387446 Location (UCSC) Chr 4: 82.82 – 82.9 Mb Chr 5: 100.51 – 100.56 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000138674 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035325 – 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. 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.
6. 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.
7. "Entrez Gene: SEC31A SEC31 homolog A (S. cerevisiae)".
8. 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

• 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.