| Gene Symbol |
SMG1
|
| Entrez Gene |
23049
|
| Alt Symbol |
61E3.4, ATX, LIP
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
SMG1 phosphatidylinositol 3-kinase-related kinase
|
| Other Description |
PI-3-kinase-related kinase SMG-1|lambda-interacting protein|lambda/iota protein kinase C-interacting protein|serine/threonine-protein kinase SMG1|smg-1 homolog, phosphatidylinositol 3-kinase-related kinase
|
| Swissprots |
Q8NFX2 Q96Q15 Q96RW3 O43305 Q96QV0 Q13284
|
| Accessions |
EAW50260 EAW50262 Q96Q15 AB007881 BAA24851 AB061371 BAB70696 AF186377 AAK58892 AF395444 AAM73708 AK025794 AK057563 AK074359 AK123332 AL833298 AW088221 AW503964 AY014957 AAK00511 BC037335 BC047629 BC156497 AAI56498 BE079340 BF333707 BU633006 CA868047 DA433527 DA854035 U32581 AAA86535 XM_005255182 XP_005255239 XM_005255183 XP_005255240 XM_005255184 XP_005255241 XM_011545769 XP_011544071 XM_011545770 XP_011544072 NM_015092 NP_055907
|
| 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)
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:15175154}. Cytoplasm {ECO:0000269|PubMed:15175154}.
|
| Tissue Specificity |
Widely expressed, with highest level in heart and skeletal muscle. Expressed in placenta, brain, lung and spleen, but not in liver. {ECO:0000269|PubMed:15175154, ECO:0000269|PubMed:8524286}.
|
| Top Pathways |
mRNA surveillance pathway
|