Name | Number of supported studies | Average coverage | |
---|---|---|---|
endothelial cell | 24 studies | 25% ± 8% | |
endothelial cell of lymphatic vessel | 13 studies | 31% ± 13% | |
fibroblast | 12 studies | 22% ± 7% | |
astrocyte | 8 studies | 27% ± 10% | |
oligodendrocyte | 7 studies | 24% ± 6% | |
capillary endothelial cell | 6 studies | 23% ± 5% | |
pericyte | 6 studies | 23% ± 6% | |
macrophage | 6 studies | 25% ± 7% | |
glutamatergic neuron | 5 studies | 47% ± 20% | |
microglial cell | 5 studies | 24% ± 6% | |
smooth muscle cell | 5 studies | 21% ± 3% | |
myeloid cell | 5 studies | 20% ± 3% | |
epithelial cell | 5 studies | 33% ± 13% | |
adipocyte | 5 studies | 30% ± 8% | |
endothelial cell of vascular tree | 4 studies | 24% ± 11% | |
GABAergic neuron | 4 studies | 41% ± 9% | |
oligodendrocyte precursor cell | 4 studies | 30% ± 8% | |
dendritic cell | 4 studies | 28% ± 11% | |
basal cell | 4 studies | 28% ± 17% | |
classical monocyte | 3 studies | 24% ± 7% | |
non-classical monocyte | 3 studies | 26% ± 7% | |
glial cell | 3 studies | 18% ± 3% | |
mast cell | 3 studies | 21% ± 7% | |
ciliated cell | 3 studies | 21% ± 4% | |
lymphocyte | 3 studies | 21% ± 2% | |
alveolar macrophage | 3 studies | 25% ± 8% | |
monocyte | 3 studies | 27% ± 2% | |
type I pneumocyte | 3 studies | 20% ± 4% | |
goblet cell | 3 studies | 29% ± 12% | |
interneuron | 3 studies | 41% ± 20% | |
neuron | 3 studies | 34% ± 6% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 2208.26 | 1445 / 1445 | 100% | 9.66 | 183 / 183 |
prostate | 100% | 2741.84 | 245 / 245 | 100% | 9.21 | 502 / 502 |
breast | 100% | 3084.83 | 459 / 459 | 100% | 9.12 | 1117 / 1118 |
lung | 100% | 2467.03 | 578 / 578 | 100% | 7.39 | 1152 / 1155 |
uterus | 100% | 3246.29 | 170 / 170 | 100% | 8.45 | 457 / 459 |
ovary | 100% | 3099.41 | 180 / 180 | 100% | 7.21 | 428 / 430 |
brain | 99% | 1445.89 | 2628 / 2642 | 100% | 5.69 | 704 / 705 |
thymus | 100% | 3076.22 | 653 / 653 | 99% | 7.45 | 600 / 605 |
pancreas | 100% | 1257.26 | 327 / 328 | 99% | 7.05 | 176 / 178 |
bladder | 100% | 2250.29 | 21 / 21 | 98% | 7.21 | 496 / 504 |
stomach | 100% | 1578.54 | 359 / 359 | 98% | 6.52 | 281 / 286 |
intestine | 100% | 2259.03 | 966 / 966 | 98% | 6.06 | 517 / 527 |
kidney | 100% | 1664.37 | 89 / 89 | 94% | 5.76 | 851 / 901 |
adrenal gland | 100% | 1512.88 | 258 / 258 | 94% | 4.80 | 216 / 230 |
skin | 100% | 3005.43 | 1809 / 1809 | 93% | 5.54 | 440 / 472 |
liver | 100% | 964.39 | 226 / 226 | 87% | 3.40 | 355 / 406 |
adipose | 100% | 2932.40 | 1204 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 2294.78 | 1335 / 1335 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 7.09 | 29 / 29 |
spleen | 100% | 2567.20 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 7.45 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 3.50 | 1 / 1 |
heart | 100% | 1304.30 | 858 / 861 | 0% | 0 | 0 / 0 |
muscle | 95% | 748.79 | 764 / 803 | 0% | 0 | 0 / 0 |
peripheral blood | 82% | 986.10 | 766 / 929 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 65% | 2.96 | 52 / 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_0071108 | Biological process | protein K48-linked deubiquitination |
GO_0034605 | Biological process | cellular response to heat |
GO_0006289 | Biological process | nucleotide-excision repair |
GO_0006511 | Biological process | ubiquitin-dependent protein catabolic process |
GO_0071218 | Biological process | cellular response to misfolded protein |
GO_0010810 | Biological process | regulation of cell-substrate adhesion |
GO_1904327 | Biological process | protein localization to cytosolic proteasome complex |
GO_0035520 | Biological process | monoubiquitinated protein deubiquitination |
GO_0030036 | Biological process | actin cytoskeleton organization |
GO_0070536 | Biological process | protein K63-linked deubiquitination |
GO_0006515 | Biological process | protein quality control for misfolded or incompletely synthesized proteins |
GO_2000060 | Biological process | positive regulation of ubiquitin-dependent protein catabolic process |
GO_0007268 | Biological process | chemical synaptic transmission |
GO_0045104 | Biological process | intermediate filament cytoskeleton organization |
GO_0034198 | Biological process | cellular response to amino acid starvation |
GO_0000226 | Biological process | microtubule cytoskeleton organization |
GO_0016579 | Biological process | protein deubiquitination |
GO_1904294 | Biological process | positive regulation of ERAD pathway |
GO_1904262 | Biological process | negative regulation of TORC1 signaling |
GO_0007399 | Biological process | nervous system development |
GO_0043161 | Biological process | proteasome-mediated ubiquitin-dependent protein catabolic process |
GO_0042405 | Cellular component | nuclear inclusion body |
GO_0005730 | Cellular component | nucleolus |
GO_0005886 | Cellular component | plasma membrane |
GO_0005789 | Cellular component | endoplasmic reticulum membrane |
GO_0031966 | Cellular component | mitochondrial membrane |
GO_0005654 | Cellular component | nucleoplasm |
GO_0016363 | Cellular component | nuclear matrix |
GO_0005829 | Cellular component | cytosol |
GO_0045202 | Cellular component | synapse |
GO_0005759 | Cellular component | mitochondrial matrix |
GO_0005737 | Cellular component | cytoplasm |
GO_0005765 | Cellular component | lysosomal membrane |
GO_0005634 | Cellular component | nucleus |
GO_0004843 | Molecular function | cysteine-type deubiquitinase activity |
GO_0031625 | Molecular function | ubiquitin protein ligase binding |
GO_0061578 | Molecular function | K63-linked deubiquitinase activity |
GO_1990380 | Molecular function | K48-linked deubiquitinase activity |
GO_0051117 | Molecular function | ATPase binding |
GO_0005515 | Molecular function | protein binding |
Gene name | ATXN3 |
Protein name | ubiquitinyl hydrolase 1 (EC 3.4.19.12) Ataxin 3 variant h Ataxin-3 (EC 3.4.19.12) (Machado-Joseph disease protein 1) (Spinocerebellar ataxia type 3 protein) Ataxin 3 variant an Ataxin 3 Ataxin 3 variant e |
Synonyms | ATX3 MJD SCA3 MJD1 |
Description | FUNCTION: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates . Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins . Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription . Acts as a negative regulator of mTORC1 signaling in response to amino acid deprivation by mediating deubiquitination of RHEB, thereby promoting RHEB inactivation by the TSC-TBC complex . Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 . . |
Accessions | D3VVA7 D3VVB8 D3VVF1 D3VVH1 D3VVM6 D3VVI7 D3VVF5 ENST00000554350.5 D3VVC3 D3VVB6 ENST00000556958.5 ENST00000526872.3 A0A2R8Y888 D3VVN4 D3VVL6 D3VVB1 D3VVI6 ENST00000556898.5 D3VVM4 D3VVJ5 D3VVN9 D3VVD6 D3VVE6 D3VVG6 D3VVK7 D3VVA8 D3VVH4 D3VVP2 G3V3A6 ENST00000556315.6 D3VVC6 G3V4U9 D3VVI1 D3VVJ3 F5H211 D3VVN1 D3VVP0 ENST00000340660.10 [P54252-3] D3VVN0 D3VVN2 D3VVG4 A0A2R8Y3X7 D3VVL1 D3VVR7 D3VVR9 D3VVJ0 D3VVS9 D3VVB3 D3VVJ1 D3VVM3 ENST00000429774.6 D3VVE0 D3VVL8 ENST00000557311.6 ENST00000545170.5 D3VVQ3 D3VVK4 ENST00000515746.6 D3VVB2 C9JQV6 D3VVR0 D3VVQ6 D3VVE5 D3VVR3 D3VVH8 D3VVI2 D3VVE4 D3VVT1 D3VVL0 D6R9I5 G3V2G1 D3VVG9 ENST00000556082.6 D3VVQ2 D3VVN5 G3V390 D3VVN7 G3V5H3 D3VVP5 D3VVL9 D3VVB4 ENST00000555816.5 D3VVH2 D3VVS2 D3VVI5 D3VVF6 G3V3T6 A0A0A0MS38 D3VVT4 D3VVB0 D3VVA9 D3VVL3 E9PJN5 D3VVP1 D3VVJ7 D3VVK3 ENST00000556288.5 D3VVF3 D3VVF4 D3VVJ2 D3VVE1 D3VVK2 D3VVF8 ENST00000359366.10 D3VVS8 G3V4F4 D3VVG7 D3VVQ5 D3VVG2 D3VVI3 ENST00000553491.5 D3VVE8 D3VVR8 D3VVJ8 D3VVH7 D3VVT6 D3VVF9 D3VVD4 D3VVS0 D3VVK0 D3VVP8 D3VVF7 ENST00000503767.5 [P54252-4] D3VVQ8 D3VVR6 B9W0P3 D3VVE7 D3VVQ0 D3VVE3 ENST00000556374.5 D3VVG3 D3VVD2 Q4VBR4 D3VVS1 D3VVP6 ENST00000646485.1 ENST00000554672.6 D3VVK1 D3VVQ4 ENST00000556671.5 D3VVQ7 G3V3T0 G3V4F5 D3VVI9 D3VVG1 D3VVD3 D3VVM9 D3VVB9 D3VVR5 ENST00000553570.5 D3VVM5 ENST00000532032.5 [P54252-1] D3VVE2 D3VVM0 G3V4B1 D3VVD5 D3VVC7 D3VVP3 D3VVH9 D3VVB5 ENST00000647161.1 D3VVL2 D3VVC8 D3VVD1 D3VVD9 D3VVT0 D3VVC0 D3VVL5 D3VVC1 D3VVF2 D3VVF0 D3VVM2 ENST00000556220.5 D3VVM7 ENST00000502250.5 [P54252-5] D3VVD7 D3VVR1 D3VVN3 ENST00000556274.5 D3VVP7 D3VVM1 D3VVH6 D3VVQ9 D3VVJ4 S4R399 D3VVC2 D3VVR2 D3VVJ9 D3VVR4 D3VVN6 D3VVH0 D3VVG8 ENST00000553488.5 D3VVE9 D3VVC9 D3VVQ1 D3VVS7 D3VVD8 D3VVT2 D3VVI0 D3VVH5 P54252 D3VVJ6 D3VVI4 D3VVK5 D3VVC5 D3VVI8 D3VVT5 D3VVM8 G3V3R7 ENST00000557030.6 D3VVS4 D3VVP4 D3VVG0 ENST00000554592.5 ENST00000555381.5 ENST00000554994.5 D3VVK9 D3VVD0 G3V2G2 D3VVG5 D3VVS6 ENST00000506466.5 ENST00000554673.5 G3V328 D3VVS5 D3VVL7 D3VVC4 ENST00000644486.2 [P54252-2] D3VVS3 D3VVK8 D3VVK6 G3V526 D3VVN8 G3V3S5 D3VVL4 D3VVH3 ENST00000393287.9 D3VVP9 |