SMG1

For the video game, see Super Mario Galaxy.

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.

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; OMA:SMG1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p12.3 Start 18,804,860 bp[1] End 18,926,408 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F1 Start 117,730,531 bp[2] End 117,842,893 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh sural nerve epithelium of colon skin of hip Achilles tendon epithelium of nasopharynx parietal pleura mucosa of sigmoid colon visceral pleura jejunal mucosa Top expressed in tail of embryo genital tubercle lobe of cerebellum cerebellar vermis mesenteric lymph nodes medullary collecting duct Rostral migratory stream renal corpuscle neural layer of retina spermatocyte More reference expression data BioGPS 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 Species Human Mouse Entrez 23049 233789 Ensembl ENSG00000157106 ENSMUSG00000030655 UniProt Q96Q15 Q8BKX6 RefSeq (mRNA) NM_015092 NM_001031814 NM_177180 RefSeq (protein) NP_055907 NP_001026984 Location (UCSC) Chr 16: 18.8 – 18.93 Mb Chr 7: 117.73 – 117.84 Mb PubMed search [3] [4]
Wikidata
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Function

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

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