Name | Number of supported studies | Average coverage | |
---|---|---|---|
epithelial cell | 3 studies | 17% ± 1% |
Insufficient scRNA-seq data for expression of SMCR8 at tissue level.
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 1895.81 | 1445 / 1445 | 100% | 22.70 | 183 / 183 |
stomach | 100% | 1919.24 | 359 / 359 | 100% | 17.83 | 285 / 286 |
breast | 100% | 2202.74 | 459 / 459 | 99% | 24.46 | 1104 / 1118 |
skin | 100% | 2597.58 | 1809 / 1809 | 99% | 23.21 | 466 / 472 |
prostate | 100% | 2003.49 | 245 / 245 | 99% | 20.32 | 495 / 502 |
intestine | 100% | 2404.20 | 966 / 966 | 98% | 14.10 | 518 / 527 |
lung | 100% | 2333.70 | 576 / 578 | 98% | 16.30 | 1137 / 1155 |
thymus | 100% | 2039.00 | 653 / 653 | 98% | 14.26 | 592 / 605 |
kidney | 100% | 1660.85 | 89 / 89 | 97% | 17.77 | 872 / 901 |
pancreas | 100% | 1155.09 | 327 / 328 | 97% | 12.73 | 172 / 178 |
ovary | 99% | 1885.60 | 179 / 180 | 97% | 12.73 | 415 / 430 |
brain | 96% | 1335.44 | 2549 / 2642 | 99% | 14.96 | 697 / 705 |
uterus | 100% | 2105.61 | 170 / 170 | 94% | 12.27 | 433 / 459 |
bladder | 100% | 2122.29 | 21 / 21 | 93% | 10.85 | 467 / 504 |
adrenal gland | 100% | 1951.80 | 258 / 258 | 89% | 10.97 | 204 / 230 |
liver | 100% | 853.66 | 226 / 226 | 76% | 6.29 | 309 / 406 |
adipose | 100% | 1966.11 | 1204 / 1204 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 16.94 | 29 / 29 |
spleen | 100% | 3291.62 | 241 / 241 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 1685.81 | 1334 / 1335 | 0% | 0 | 0 / 0 |
muscle | 100% | 1485.14 | 802 / 803 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 99% | 22.86 | 79 / 80 |
peripheral blood | 97% | 2831.93 | 900 / 929 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 96% | 18.32 | 43 / 45 |
heart | 94% | 1075.82 | 808 / 861 | 0% | 0 | 0 / 0 |
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 |
ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
GO_0016242 | Biological process | negative regulation of macroautophagy |
GO_0043547 | Biological process | positive regulation of GTPase activity |
GO_0010629 | Biological process | negative regulation of gene expression |
GO_1903432 | Biological process | regulation of TORC1 signaling |
GO_0050777 | Biological process | negative regulation of immune response |
GO_0010506 | Biological process | regulation of autophagy |
GO_1902902 | Biological process | negative regulation of autophagosome assembly |
GO_0006914 | Biological process | autophagy |
GO_0045920 | Biological process | negative regulation of exocytosis |
GO_1901098 | Biological process | positive regulation of autophagosome maturation |
GO_0032008 | Biological process | positive regulation of TOR signaling |
GO_0098793 | Cellular component | presynapse |
GO_0032045 | Cellular component | guanyl-nucleotide exchange factor complex |
GO_0005654 | Cellular component | nucleoplasm |
GO_0098794 | Cellular component | postsynapse |
GO_1990316 | Cellular component | Atg1/ULK1 kinase complex |
GO_0005737 | Cellular component | cytoplasm |
GO_0042995 | Cellular component | cell projection |
GO_0000785 | Cellular component | chromatin |
GO_0004860 | Molecular function | protein kinase inhibitor activity |
GO_0005085 | Molecular function | guanyl-nucleotide exchange factor activity |
GO_0019901 | Molecular function | protein kinase binding |
GO_0005096 | Molecular function | GTPase activator activity |
GO_0005515 | Molecular function | protein binding |
Gene name | SMCR8 |
Protein name | Guanine nucleotide exchange protein SMCR8 (Smith-Magenis syndrome chromosomal region candidate gene 8 protein) |
Synonyms | |
Description | FUNCTION: Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy . In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation . The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ULK1/ATG1 kinase complex and inhibiting its protein kinase activity . As part of the C9orf72-SMCR8 complex, stimulates RAB8A and RAB11A GTPase activity in vitro . Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates . In addition to its activity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8 also localizes in the nucleus, where it associates with chromatin and negatively regulates expression of suppresses ULK1 and WIPI2 genes . . |
Accessions | Q8TEV9 ENST00000406438.5 [Q8TEV9-1] ENST00000639332.2 [Q8TEV9-1] |