Name | Number of supported studies | Average coverage | |
---|---|---|---|
endothelial cell | 18 studies | 34% ± 16% | |
astrocyte | 13 studies | 33% ± 14% | |
oligodendrocyte | 13 studies | 37% ± 14% | |
microglial cell | 10 studies | 30% ± 8% | |
oligodendrocyte precursor cell | 10 studies | 33% ± 13% | |
GABAergic neuron | 9 studies | 42% ± 24% | |
macrophage | 9 studies | 32% ± 12% | |
adipocyte | 9 studies | 36% ± 16% | |
fibroblast | 9 studies | 35% ± 16% | |
glutamatergic neuron | 8 studies | 51% ± 24% | |
smooth muscle cell | 7 studies | 28% ± 11% | |
endothelial cell of lymphatic vessel | 6 studies | 33% ± 18% | |
neuron | 5 studies | 44% ± 23% | |
interneuron | 5 studies | 47% ± 22% | |
club cell | 5 studies | 29% ± 10% | |
type I pneumocyte | 5 studies | 35% ± 15% | |
type II pneumocyte | 5 studies | 39% ± 18% | |
granule cell | 4 studies | 26% ± 7% | |
cardiac muscle cell | 4 studies | 23% ± 3% | |
mast cell | 4 studies | 22% ± 5% | |
mesothelial cell | 4 studies | 23% ± 4% | |
epithelial cell | 4 studies | 34% ± 21% | |
amacrine cell | 4 studies | 18% ± 3% | |
retinal cone cell | 4 studies | 27% ± 8% | |
myeloid cell | 4 studies | 26% ± 5% | |
monocyte | 4 studies | 36% ± 17% | |
ciliated cell | 4 studies | 27% ± 13% | |
pericyte | 4 studies | 33% ± 10% | |
GABAergic interneuron | 3 studies | 27% ± 5% | |
dendritic cell | 3 studies | 24% ± 9% | |
GABAergic amacrine cell | 3 studies | 19% ± 4% | |
Mueller cell | 3 studies | 18% ± 1% | |
glycinergic amacrine cell | 3 studies | 17% ± 1% | |
retinal rod cell | 3 studies | 28% ± 10% | |
hepatocyte | 3 studies | 46% ± 22% | |
retinal pigment epithelial cell | 3 studies | 39% ± 20% | |
ependymal cell | 3 studies | 28% ± 13% | |
T cell | 3 studies | 46% ± 19% | |
alveolar macrophage | 3 studies | 43% ± 16% | |
lymphocyte | 3 studies | 32% ± 8% | |
basal cell | 3 studies | 37% ± 21% | |
brush cell | 3 studies | 28% ± 13% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
breast | 100% | 2413.86 | 459 / 459 | 100% | 24.04 | 1117 / 1118 |
intestine | 100% | 2154.95 | 966 / 966 | 100% | 18.25 | 525 / 527 |
prostate | 100% | 2215.65 | 245 / 245 | 100% | 19.05 | 500 / 502 |
skin | 100% | 2826.90 | 1809 / 1809 | 100% | 29.77 | 470 / 472 |
thymus | 100% | 2259.67 | 653 / 653 | 100% | 23.89 | 602 / 605 |
esophagus | 100% | 1957.89 | 1445 / 1445 | 99% | 17.93 | 182 / 183 |
bladder | 100% | 2186.19 | 21 / 21 | 99% | 15.64 | 501 / 504 |
lung | 100% | 1910.43 | 578 / 578 | 99% | 17.56 | 1148 / 1155 |
stomach | 100% | 1664.43 | 359 / 359 | 99% | 18.51 | 284 / 286 |
brain | 99% | 1890.22 | 2625 / 2642 | 100% | 20.98 | 703 / 705 |
uterus | 100% | 2599.50 | 170 / 170 | 99% | 16.25 | 454 / 459 |
kidney | 100% | 1625.79 | 89 / 89 | 99% | 16.63 | 890 / 901 |
ovary | 100% | 2413.75 | 180 / 180 | 99% | 17.34 | 424 / 430 |
pancreas | 99% | 936.32 | 324 / 328 | 99% | 18.51 | 176 / 178 |
adrenal gland | 100% | 3485.22 | 258 / 258 | 96% | 15.01 | 220 / 230 |
liver | 100% | 1015.77 | 225 / 226 | 96% | 11.02 | 389 / 406 |
adipose | 100% | 2048.60 | 1204 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 2188.84 | 1335 / 1335 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 100% | 33.76 | 80 / 80 |
lymph node | 0% | 0 | 0 / 0 | 100% | 16.45 | 29 / 29 |
muscle | 100% | 1631.63 | 803 / 803 | 0% | 0 | 0 / 0 |
spleen | 100% | 2125.54 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 17.33 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 4.27 | 1 / 1 |
heart | 98% | 1180.59 | 843 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 96% | 1302.73 | 892 / 929 | 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 |
GO_0008285 | Biological process | negative regulation of cell population proliferation |
GO_0000209 | Biological process | protein polyubiquitination |
GO_0000045 | Biological process | autophagosome assembly |
GO_0006357 | Biological process | regulation of transcription by RNA polymerase II |
GO_2000045 | Biological process | regulation of G1/S transition of mitotic cell cycle |
GO_0009267 | Biological process | cellular response to starvation |
GO_0030154 | Biological process | cell differentiation |
GO_0010508 | Biological process | positive regulation of autophagy |
GO_1901526 | Biological process | positive regulation of mitophagy |
GO_0051897 | Biological process | positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction |
GO_0000423 | Biological process | mitophagy |
GO_0010667 | Biological process | negative regulation of cardiac muscle cell apoptotic process |
GO_0043524 | Biological process | negative regulation of neuron apoptotic process |
GO_0021915 | Biological process | neural tube development |
GO_0045591 | Biological process | positive regulation of regulatory T cell differentiation |
GO_0043161 | Biological process | proteasome-mediated ubiquitin-dependent protein catabolic process |
GO_1904544 | Biological process | positive regulation of free ubiquitin chain polymerization |
GO_0035307 | Biological process | positive regulation of protein dephosphorylation |
GO_0098780 | Biological process | response to mitochondrial depolarisation |
GO_0005856 | Cellular component | cytoskeleton |
GO_0048471 | Cellular component | perinuclear region of cytoplasm |
GO_0005739 | Cellular component | mitochondrion |
GO_0080008 | Cellular component | Cul4-RING E3 ubiquitin ligase complex |
GO_0005925 | Cellular component | focal adhesion |
GO_0005930 | Cellular component | axoneme |
GO_0005783 | Cellular component | endoplasmic reticulum |
GO_0005829 | Cellular component | cytosol |
GO_0045335 | Cellular component | phagocytic vesicle |
GO_0005776 | Cellular component | autophagosome |
GO_0005737 | Cellular component | cytoplasm |
GO_0043231 | Cellular component | intracellular membrane-bounded organelle |
GO_0005741 | Cellular component | mitochondrial outer membrane |
GO_0005634 | Cellular component | nucleus |
GO_1990756 | Molecular function | ubiquitin-like ligase-substrate adaptor activity |
GO_0019903 | Molecular function | protein phosphatase binding |
GO_0051020 | Molecular function | GTPase binding |
GO_0031625 | Molecular function | ubiquitin protein ligase binding |
GO_0005515 | Molecular function | protein binding |
Gene name | AMBRA1 |
Protein name | Activating molecule in BECN1-regulated autophagy protein 1 (DDB1- and CUL4-associated factor 3) Autophagy and beclin 1 regulator 1 |
Synonyms | DCAF3 KIAA1736 |
Description | FUNCTION: Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex involved in cell cycle control and autophagy . The DCX(AMBRA1) complex specifically mediates the polyubiquitination of target proteins such as BECN1, CCND1, CCND2, CCND3, ELOC and ULK1 . Acts as an upstream master regulator of the transition from G1 to S cell phase: AMBRA1 specifically recognizes and binds phosphorylated cyclin-D (CCND1, CCND2 and CCND3), leading to cyclin-D ubiquitination by the DCX(AMBRA1) complex and subsequent degradation . By controlling the transition from G1 to S phase and cyclin-D degradation, AMBRA1 acts as a tumor suppressor that promotes genomic integrity during DNA replication and counteracts developmental abnormalities and tumor growth . AMBRA1 also regulates the cell cycle by promoting MYC dephosphorylation and degradation independently of the DCX(AMBRA1) complex: acts via interaction with the catalytic subunit of protein phosphatase 2A (PPP2CA), which enhances interaction between PPP2CA and MYC, leading to MYC dephosphorylation and degradation . Acts as a regulator of Cul5-RING (CRL5) E3 ubiquitin-protein ligase complexes by mediating ubiquitination and degradation of Elongin-C (ELOC) component of CRL5 complexes . Acts as a key regulator of autophagy by modulating the BECN1-PIK3C3 complex: controls protein turnover during neuronal development, and regulates normal cell survival and proliferation . In normal conditions, AMBRA1 is tethered to the cytoskeleton via interaction with dyneins DYNLL1 and DYNLL2 . Upon autophagy induction, AMBRA1 is released from the cytoskeletal docking site to induce autophagosome nucleation by mediating ubiquitination of proteins involved in autophagy . The DCX(AMBRA1) complex mediates 'Lys-63'-linked ubiquitination of BECN1, increasing the association between BECN1 and PIK3C3 to promote PIK3C3 activity (By similarity). In collaboration with TRAF6, AMBRA1 mediates 'Lys-63'-linked ubiquitination of ULK1 following autophagy induction, promoting ULK1 stability and kinase activity . Also activates ULK1 via interaction with TRIM32: TRIM32 stimulates ULK1 through unanchored 'Lys-63'-linked polyubiquitin chains . Also acts as an activator of mitophagy via interaction with PRKN and LC3 proteins (MAP1LC3A, MAP1LC3B or MAP1LC3C); possibly by bringing damaged mitochondria onto autophagosomes . Also activates mitophagy by acting as a cofactor for HUWE1; acts by promoting HUWE1-mediated ubiquitination of MFN2 . AMBRA1 is also involved in regulatory T-cells (Treg) differentiation by promoting FOXO3 dephosphorylation independently of the DCX(AMBRA1) complex: acts via interaction with PPP2CA, which enhances interaction between PPP2CA and FOXO3, leading to FOXO3 dephosphorylation and stabilization . May act as a regulator of intracellular trafficking, regulating the localization of active PTK2/FAK and SRC (By similarity). Also involved in transcription regulation by acting as a scaffold for protein complexes at chromatin (By similarity). . |
Accessions | Q9C0C7 ENST00000458649.6 [Q9C0C7-1] H0YE34 ENST00000526545.5 ENST00000314845.7 [Q9C0C7-4] ENST00000534300.5 [Q9C0C7-2] ENST00000683756.1 [Q9C0C7-1] ENST00000533727.5 ENST00000526606.1 E9PL55 ENST00000528950.1 [Q9C0C7-3] A0A075B6T1 |