Name | Number of supported studies | Average coverage | |
---|---|---|---|
brain | 15 studies | 37% ± 19% | |
peripheral blood | 11 studies | 28% ± 15% | |
lung | 10 studies | 26% ± 13% | |
kidney | 5 studies | 24% ± 5% | |
liver | 5 studies | 29% ± 13% | |
bone marrow | 4 studies | 21% ± 5% | |
heart | 4 studies | 32% ± 8% | |
intestine | 4 studies | 18% ± 2% | |
adipose | 4 studies | 26% ± 2% | |
breast | 3 studies | 20% ± 4% | |
skin | 3 studies | 21% ± 2% | |
lymph node | 3 studies | 19% ± 2% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 9773.18 | 1445 / 1445 | 100% | 26.38 | 183 / 183 |
breast | 100% | 8858.38 | 459 / 459 | 99% | 22.99 | 1112 / 1118 |
uterus | 100% | 10245.72 | 170 / 170 | 98% | 14.78 | 452 / 459 |
lung | 100% | 8711.93 | 576 / 578 | 99% | 14.57 | 1140 / 1155 |
bladder | 100% | 9334.10 | 21 / 21 | 98% | 13.45 | 495 / 504 |
intestine | 100% | 10026.18 | 966 / 966 | 98% | 14.94 | 517 / 527 |
thymus | 100% | 11858.13 | 653 / 653 | 98% | 13.41 | 592 / 605 |
stomach | 100% | 7003.87 | 359 / 359 | 97% | 17.18 | 278 / 286 |
prostate | 100% | 8833.09 | 245 / 245 | 97% | 13.00 | 487 / 502 |
ovary | 100% | 9258.42 | 180 / 180 | 97% | 9.06 | 417 / 430 |
pancreas | 99% | 5025.27 | 325 / 328 | 98% | 13.91 | 174 / 178 |
kidney | 100% | 6660.40 | 89 / 89 | 95% | 12.60 | 858 / 901 |
brain | 96% | 7350.20 | 2545 / 2642 | 99% | 13.13 | 697 / 705 |
skin | 100% | 14632.06 | 1809 / 1809 | 95% | 13.11 | 448 / 472 |
adrenal gland | 100% | 5938.78 | 258 / 258 | 87% | 6.83 | 201 / 230 |
liver | 100% | 5098.06 | 226 / 226 | 76% | 5.58 | 309 / 406 |
adipose | 100% | 9267.32 | 1204 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 9925.57 | 1335 / 1335 | 0% | 0 | 0 / 0 |
muscle | 100% | 23158.02 | 803 / 803 | 0% | 0 | 0 / 0 |
spleen | 100% | 9427.67 | 241 / 241 | 0% | 0 | 0 / 0 |
ureter | 0% | 0 | 0 / 0 | 100% | 4.08 | 1 / 1 |
tonsil | 0% | 0 | 0 / 0 | 98% | 16.31 | 44 / 45 |
lymph node | 0% | 0 | 0 / 0 | 97% | 14.55 | 28 / 29 |
heart | 96% | 6310.29 | 823 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 82% | 6703.29 | 763 / 929 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 74% | 6.67 | 59 / 80 |
abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
GO_0018105 | Biological process | peptidyl-serine phosphorylation |
GO_0006281 | Biological process | DNA repair |
GO_0032204 | Biological process | regulation of telomere maintenance |
GO_0006974 | Biological process | DNA damage response |
GO_0046854 | Biological process | phosphatidylinositol phosphate biosynthetic process |
GO_0000184 | Biological process | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
GO_0006406 | Biological process | mRNA export from nucleus |
GO_0046777 | Biological process | protein autophosphorylation |
GO_0005654 | Cellular component | nucleoplasm |
GO_0033391 | Cellular component | chromatoid body |
GO_0005829 | Cellular component | cytosol |
GO_0005737 | Cellular component | cytoplasm |
GO_0005634 | Cellular component | nucleus |
GO_0106310 | Molecular function | protein serine kinase activity |
GO_0042162 | Molecular function | telomeric DNA binding |
GO_0004674 | Molecular function | protein serine/threonine kinase activity |
GO_0004672 | Molecular function | protein kinase activity |
GO_0046872 | Molecular function | metal ion binding |
GO_0005524 | Molecular function | ATP binding |
GO_0003723 | Molecular function | RNA binding |
GO_0004697 | Molecular function | diacylglycerol-dependent serine/threonine kinase activity |
GO_0005515 | Molecular function | protein binding |
Gene name | SMG1 |
Protein name | non-specific serine/threonine protein kinase (EC 2.7.11.1) Serine/threonine-protein kinase SMG1 (SMG-1) (hSMG-1) (EC 2.7.11.1) (Lambda/iota protein kinase C-interacting protein) (Lambda-interacting protein) (Nonsense mediated mRNA decay-associated PI3K-related kinase SMG1) SMG1 nonsense mediated mRNA decay associated PI3K related kinase |
Synonyms | LIP KIAA0421 ATX |
Description | 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. . |
Accessions | ENST00000565324.5 I3L400 E9PNP6 A0A087X1K8 H3BPS6 I3L144 ENST00000561947.5 ENST00000568038.1 ENST00000565224.5 H3BQN7 ENST00000566328.2 J3KRA9 I3L0W2 ENST00000446231.7 [Q96Q15-1] ENST00000563235.5 ENST00000563836.1 ENST00000569122.1 H3BR09 ENST00000532700.6 Q96Q15 |