SEC31A

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
Gene location (Human)
Chr.	Chromosome 4 (human)[1]
End	82,901,166 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	100,564,093 bp[2]
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; pancreatic ductal cell; ; body of pancreas; ; tibia; ; Achilles tendon; ; stromal cell of endometrium; ; periodontal fiber; ; islet of Langerhans; ; synovial joint; ; canal of the cervix;
	Top expressed in
	calvaria; ; molar; ; duodenum; ; yolk sac; ; lip; ; parotid gland; ; secondary oocyte; ; superior frontal gyrus; ; jejunum; ; submandibular gland;
	More reference expression data
	; ;
	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
	22872
	69162
	ENSG00000138674
	ENSMUSG00000035325
	O94979
	Q3UPL0
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

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

GRCh38: Ensembl release 89: ENSG00000138674 - Ensembl, May 2017
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.
"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.

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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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000138674 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10048485-5] 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.

[pmid10788476-6] 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.

[entrez-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.

SEC31A

References

Further reading