SMG1

SMG1
Identifiers
Aliases	SMG1, 61E3.4, ATX, LIP, nonsense mediated mRNA decay associated PI3K related kinase, SMG1 nonsense mediated mRNA decay associated PI3K related kinase
External IDs	OMIM: 607032 MGI: 1919742 HomoloGene: 56697 GeneCards: SMG1
Gene location (Human)
Chr.	Chromosome 16 (human)
End	18,926,408 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	117,842,893 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; Achilles tendon; ; parietal pleura; ; visceral pleura; ; jejunal mucosa; ; biceps brachii; ; thymus; ; trabecular bone; ; superior surface of tongue; ; endothelial cell;
	Top expressed in
	cerebellar vermis; ; medullary collecting duct; ; renal corpuscle; ; spermatocyte; ; thymus; ; cumulus cell; ; blood; ; spermatid; ; Paneth cell; ; conjunctival fornix;
	More reference expression data
	n/a
Gene ontology
Molecular function	telomeric DNA binding; ATP binding; protein kinase activity; protein binding; kinase activity; metal ion binding; nucleotide binding; transferase activity; protein serine/threonine kinase activity; RNA binding;
Cellular component	nucleus; cytosol; cytoplasm; nucleoplasm;
Biological process	response to stress; mRNA export from nucleus; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; peptidyl-serine phosphorylation; phosphatidylinositol phosphate biosynthetic process; cellular response to DNA damage stimulus; protein autophosphorylation; phosphorylation; regulation of telomere maintenance; DNA repair; regulation of response to DNA damage stimulus; protein phosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	23049
	233789
	ENSG00000157106
	ENSMUSG00000030655
	Q96Q15
	Q8BKX6
	NM_015092
	NM_001031814; NM_177180
	NP_055907
	NP_001026984
	Wikidata
View/Edit Human	View/Edit Mouse

Serine/threonine-protein kinase SMG1 is an enzyme that in humans is encoded by the SMG1 gene.^[5]^[6]^[7]^[8] SMG1 belongs to the phosphatidylinositol 3-kinase-related kinase protein family.

Function edit

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternative spliced transcript variants have been described, but their full-length natures have not been determined.^[8]

Interactions edit

SMG1 (gene) has been shown to interact with PRKCI^[9] and UPF1.^[10]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000157106 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030655 – 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.
^ Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1998). "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 4 (5): 307–13. doi:10.1093/dnares/4.5.307. PMID 9455477.
^ Denning G, Jamieson L, Maquat LE, Thompson EA, Fields AP (June 2001). "Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein". J. Biol. Chem. 276 (25): 22709–14. doi:10.1074/jbc.C100144200. PMID 11331269.
^ Morita T, Yamashita A, Kashima I, Ogata K, Ishiura S, Ohno S (March 2007). "Distant N- and C-terminal domains are required for intrinsic kinase activity of SMG-1, a critical component of nonsense-mediated mRNA decay". J. Biol. Chem. 282 (11): 7799–808. doi:10.1074/jbc.M610159200. PMID 17229728.
^ ^a ^b "Entrez Gene: SMG1 PI-3-kinase-related kinase SMG-1".
^ Diaz-Meco MT, Municio MM, Sanchez P, Lozano J, Moscat J (January 1996). "Lambda-interacting protein, a novel protein that specifically interacts with the zinc finger domain of the atypical protein kinase C isotype lambda/iota and stimulates its kinase activity in vitro and in vivo". Mol. Cell. Biol. 16 (1): 105–14. doi:10.1128/mcb.16.1.105. PMC 230983. PMID 8524286.
^ Yamashita A, Ohnishi T, Kashima I, Taya Y, Ohno S (September 2001). "Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay". Genes Dev. 15 (17): 2215–28. doi:10.1101/gad.913001. PMC 312771. PMID 11544179.

Further reading edit

Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. CiteSeerX 10.1.1.500.923. doi:10.1093/dnares/9.3.99. PMID 12168954.
Abraham RT (2005). "The ATM-related kinase, hSMG-1, bridges genome and RNA surveillance pathways". DNA Repair (Amst.). 3 (8–9): 919–25. doi:10.1016/j.dnarep.2004.04.003. PMID 15279777.
Diaz-Meco MT, Municio MM, Sanchez P, Lozano J, Moscat J (1996). "Lambda-interacting protein, a novel protein that specifically interacts with the zinc finger domain of the atypical protein kinase C isotype lambda/iota and stimulates its kinase activity in vitro and in vivo". Mol. Cell. Biol. 16 (1): 105–14. doi:10.1128/MCB.16.1.105. PMC 230983. PMID 8524286.
Sanchez P, De Carcer G, Sandoval IV, Moscat J, Diaz-Meco MT (1998). "Localization of atypical protein kinase C isoforms into lysosome-targeted endosomes through interaction with p62". Mol. Cell. Biol. 18 (5): 3069–80. doi:10.1128/mcb.18.5.3069. PMC 110686. PMID 9566925.
Carmeliet P, Lampugnani MG, Moons L, Breviario F, Compernolle V, Bono F, Balconi G, Spagnuolo R, Oosthuyse B, Dewerchin M, Zanetti A, Angellilo A, Mattot V, Nuyens D, Lutgens E, Clotman F, de Ruiter MC, Gittenberger-de Groot A, Poelmann R, Lupu F, Herbert JM, Collen D, Dejana E (1999). "Targeted deficiency or cytosolic truncation of the VE-cadherin gene in mice impairs VEGF-mediated endothelial survival and angiogenesis". Cell. 98 (2): 147–57. doi:10.1016/S0092-8674(00)81010-7. PMID 10428027. S2CID 2668221.
Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y, Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC, Adams MD (1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID 10493829.
Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
Yamashita A, Ohnishi T, Kashima I, Taya Y, Ohno S (2001). "Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay". Genes Dev. 15 (17): 2215–28. doi:10.1101/gad.913001. PMC 312771. PMID 11544179.
Eichler EE, Johnson ME, Alkan C, Tuzun E, Sahinalp C, Misceo D, Archidiacono N, Rocchi M (2002). "Divergent origins and concerted expansion of two segmental duplications on chromosome 16". J. Hered. 92 (6): 462–8. doi:10.1093/jhered/92.6.462. PMID 11948212.
Chiu SY, Serin G, Ohara O, Maquat LE (2003). "Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1". RNA. 9 (1): 77–87. doi:10.1261/rna.2137903. PMC 1370372. PMID 12554878.
Ohnishi T, Yamashita A, Kashima I, Schell T, Anders KR, Grimson A, Hachiya T, Hentze MW, Anderson P, Ohno S (2003). "Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7". Mol. Cell. 12 (5): 1187–200. doi:10.1016/S1097-2765(03)00443-X. PMID 14636577.
Brumbaugh KM, Otterness DM, Geisen C, Oliveira V, Brognard J, Li X, Lejeune F, Tibbetts RS, Maquat LE, Abraham RT (2004). "The mRNA surveillance protein hSMG-1 functions in genotoxic stress response pathways in mammalian cells". Mol. Cell. 14 (5): 585–98. doi:10.1016/j.molcel.2004.05.005. PMID 15175154.
Kashima I, Yamashita A, Izumi N, Kataoka N, Morishita R, Hoshino S, Ohno M, Dreyfuss G, Ohno S (2006). "Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay". Genes Dev. 20 (3): 355–67. doi:10.1101/gad.1389006. PMC 1361706. PMID 16452507.
Azzalin CM, Lingner J (2006). "The human RNA surveillance factor UPF1 is required for S phase progression and genome stability". Curr. Biol. 16 (4): 433–9. Bibcode:2006CBio...16..433A. doi:10.1016/j.cub.2006.01.018. PMID 16488880. S2CID 17197870.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000157106 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030655 – 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.

[pmid9455477-5] Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1998). "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 4 (5): 307–13. doi:10.1093/dnares/4.5.307. PMID 9455477.

[pmid11331269-6] Denning G, Jamieson L, Maquat LE, Thompson EA, Fields AP (June 2001). "Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein". J. Biol. Chem. 276 (25): 22709–14. doi:10.1074/jbc.C100144200. PMID 11331269.

[pmid17229728-7] Morita T, Yamashita A, Kashima I, Ogata K, Ishiura S, Ohno S (March 2007). "Distant N- and C-terminal domains are required for intrinsic kinase activity of SMG-1, a critical component of nonsense-mediated mRNA decay". J. Biol. Chem. 282 (11): 7799–808. doi:10.1074/jbc.M610159200. PMID 17229728.

[entrez-8] "Entrez Gene: SMG1 PI-3-kinase-related kinase SMG-1".

[pmid8524286-9] Diaz-Meco MT, Municio MM, Sanchez P, Lozano J, Moscat J (January 1996). "Lambda-interacting protein, a novel protein that specifically interacts with the zinc finger domain of the atypical protein kinase C isotype lambda/iota and stimulates its kinase activity in vitro and in vivo". Mol. Cell. Biol. 16 (1): 105–14. doi:10.1128/mcb.16.1.105. PMC 230983. PMID 8524286.

[pmid11544179-10] Yamashita A, Ohnishi T, Kashima I, Taya Y, Ohno S (September 2001). "Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay". Genes Dev. 15 (17): 2215–28. doi:10.1101/gad.913001. PMC 312771. PMID 11544179.

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