Aliases for SMG1 Gene
External Ids for SMG1 Gene
Previous GeneCards Identifiers for SMG1 Gene
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. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]
GeneCards Summary for SMG1 Gene
SMG1 (SMG1 Phosphatidylinositol 3-Kinase-Related Kinase) is a Protein Coding gene. Diseases associated with SMG1 include ullrich congenital muscular dystrophy. Among its related pathways are Cell Cycle / Checkpoint Control and Cell Cycle / Checkpoint Control. GO annotations related to this gene include protein serine/threonine kinase activity and protein kinase activity. An important paralog of this gene is ENSG00000261740.
UniProtKB/Swiss-Prot for SMG1 Gene
Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Also acts as a genotoxic stress-activated protein kinase that displays some functional overlap with ATM. Can phosphorylate p53/TP53 and is required for optimal p53/TP53 activation after cellular exposure to genotoxic stress. Its depletion leads to spontaneous DNA damage and increased sensitivity to ionizing radiation (IR). May activate PRKCI but not PRKCZ.