Human Gene SMG1 (ENST00000446231.7) from GENCODE V44
Description: Homo sapiens SMG1 nonsense mediated mRNA decay associated PI3K related kinase (SMG1), mRNA. (from RefSeq NM_015092) RefSeq Summary (NM_015092): 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]. Gencode Transcript: ENST00000446231.7 Gencode Gene: ENSG00000157106.18 Transcript (Including UTRs) Position: hg38 chr16:18,804,860-18,926,408 Size: 121,549 Total Exon Count: 63 Strand: - Coding Region Position: hg38 chr16:18,809,569-18,926,041 Size: 116,473 Coding Exon Count: 63
ID:SMG1_HUMAN DESCRIPTION: RecName: Full=Serine/threonine-protein kinase SMG1; Short=SMG-1; Short=hSMG-1; EC=2.7.11.1; AltName: Full=61E3.4; AltName: Full=Lambda/iota protein kinase C-interacting protein; Short=Lambda-interacting protein; FUNCTION: 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. CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein. COFACTOR: Manganese. ENZYME REGULATION: Inhibited by caffeine, LY294002 and wortmannin. SUBUNIT: Component of the SMG1C complex composed of SMG1, SMG8 and SMG9; the recruitment of SMG8 to SMG1 N-terminus induces a large conformational change in the SMG1 C-terminal head domain containing the catalytic domain. Component of the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. Interacts with PRKCI. Interacts with TELO2 and TTI1. Interacts with RUVBL1 and RUVBL2. Interacts with UPF2. INTERACTION: P11940:PABPC1; NbExp=2; IntAct=EBI-1049832, EBI-81531; Q9HAU5:UPF2; NbExp=6; IntAct=EBI-1049832, EBI-372073; SUBCELLULAR LOCATION: Nucleus. Cytoplasm. TISSUE SPECIFICITY: Widely expressed, with highest level in heart and skeletal muscle. Expressed in placenta, brain, lung and spleen, but not in liver. PTM: Autophosphorylated (Probable). Phosphorylated upon DNA damage, probably by ATM or ATR. MISCELLANEOUS: This gene is located in a region of chromosome 16 that contains 2 segmental duplications. Other genes that are highly related to this exist, but they probably represent pseudogenes. SIMILARITY: Belongs to the PI3/PI4-kinase family. SIMILARITY: Contains 1 FAT domain. SIMILARITY: Contains 1 FATC domain. SIMILARITY: Contains 1 HEAT repeat. SIMILARITY: Contains 1 PI3K/PI4K domain. SEQUENCE CAUTION: Sequence=AAA86535.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96Q15
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
