Name | Number of supported studies | Average coverage | |
---|---|---|---|
endothelial cell | 18 studies | 40% ± 13% | |
astrocyte | 17 studies | 66% ± 18% | |
oligodendrocyte | 14 studies | 54% ± 17% | |
microglial cell | 14 studies | 52% ± 18% | |
glutamatergic neuron | 12 studies | 62% ± 24% | |
oligodendrocyte precursor cell | 12 studies | 64% ± 16% | |
GABAergic neuron | 11 studies | 62% ± 24% | |
fibroblast | 11 studies | 45% ± 13% | |
pericyte | 10 studies | 33% ± 14% | |
adipocyte | 10 studies | 60% ± 21% | |
smooth muscle cell | 10 studies | 35% ± 14% | |
macrophage | 9 studies | 38% ± 18% | |
endothelial cell of lymphatic vessel | 8 studies | 36% ± 10% | |
mast cell | 7 studies | 31% ± 10% | |
cardiac muscle cell | 6 studies | 75% ± 17% | |
myeloid cell | 6 studies | 31% ± 12% | |
neuron | 5 studies | 53% ± 19% | |
mesothelial cell | 5 studies | 35% ± 16% | |
interneuron | 5 studies | 72% ± 24% | |
Mueller cell | 4 studies | 53% ± 12% | |
amacrine cell | 4 studies | 48% ± 14% | |
retina horizontal cell | 4 studies | 41% ± 11% | |
retinal cone cell | 4 studies | 70% ± 21% | |
retinal ganglion cell | 4 studies | 65% ± 24% | |
retinal rod cell | 4 studies | 49% ± 14% | |
ciliated cell | 4 studies | 27% ± 8% | |
type I pneumocyte | 4 studies | 33% ± 5% | |
type II pneumocyte | 4 studies | 28% ± 4% | |
vein endothelial cell | 3 studies | 34% ± 17% | |
GABAergic amacrine cell | 3 studies | 56% ± 12% | |
OFF-bipolar cell | 3 studies | 38% ± 10% | |
ON-bipolar cell | 3 studies | 39% ± 10% | |
glycinergic amacrine cell | 3 studies | 38% ± 7% | |
endothelial cell of vascular tree | 3 studies | 39% ± 11% | |
retinal pigment epithelial cell | 3 studies | 70% ± 20% | |
ependymal cell | 3 studies | 51% ± 16% | |
epithelial cell | 3 studies | 49% ± 27% | |
capillary endothelial cell | 3 studies | 23% ± 4% | |
club cell | 3 studies | 30% ± 7% | |
basal cell | 3 studies | 39% ± 27% | |
granule cell | 3 studies | 53% ± 22% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
brain | 99% | 775.17 | 2612 / 2642 | 96% | 3.11 | 679 / 705 |
kidney | 100% | 671.60 | 89 / 89 | 89% | 4.27 | 806 / 901 |
adrenal gland | 99% | 597.22 | 256 / 258 | 87% | 3.23 | 199 / 230 |
prostate | 87% | 210.23 | 213 / 245 | 59% | 0.92 | 298 / 502 |
thymus | 89% | 176.18 | 580 / 653 | 40% | 0.60 | 245 / 605 |
breast | 99% | 346.04 | 456 / 459 | 30% | 0.52 | 332 / 1118 |
ovary | 98% | 320.66 | 176 / 180 | 15% | 0.25 | 65 / 430 |
uterus | 94% | 251.04 | 160 / 170 | 12% | 0.21 | 53 / 459 |
bladder | 95% | 413.71 | 20 / 21 | 8% | 0.13 | 39 / 504 |
stomach | 85% | 265.39 | 306 / 359 | 17% | 0.29 | 49 / 286 |
muscle | 100% | 1469.39 | 803 / 803 | 0% | 0 | 0 / 0 |
blood vessel | 99% | 407.15 | 1323 / 1335 | 0% | 0 | 0 / 0 |
adipose | 99% | 375.99 | 1190 / 1204 | 0% | 0 | 0 / 0 |
intestine | 87% | 338.94 | 843 / 966 | 11% | 0.16 | 60 / 527 |
heart | 95% | 1015.59 | 818 / 861 | 0% | 0 | 0 / 0 |
skin | 80% | 256.28 | 1446 / 1809 | 15% | 0.24 | 70 / 472 |
lung | 74% | 136.03 | 429 / 578 | 15% | 0.30 | 171 / 1155 |
esophagus | 74% | 342.19 | 1069 / 1445 | 13% | 0.20 | 23 / 183 |
spleen | 57% | 94.32 | 138 / 241 | 0% | 0 | 0 / 0 |
liver | 15% | 21.38 | 34 / 226 | 24% | 0.60 | 99 / 406 |
eye | 0% | 0 | 0 / 0 | 36% | 0.59 | 29 / 80 |
pancreas | 17% | 24.71 | 56 / 328 | 17% | 0.25 | 30 / 178 |
tonsil | 0% | 0 | 0 / 0 | 2% | 0.18 | 1 / 45 |
peripheral blood | 0% | 0.36 | 2 / 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 |
lymph node | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 29 |
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_1903265 | Biological process | positive regulation of tumor necrosis factor-mediated signaling pathway |
GO_0010821 | Biological process | regulation of mitochondrion organization |
GO_0070585 | Biological process | protein localization to mitochondrion |
GO_1903377 | Biological process | negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway |
GO_1903382 | Biological process | negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway |
GO_0016236 | Biological process | macroautophagy |
GO_0090090 | Biological process | negative regulation of canonical Wnt signaling pathway |
GO_0046676 | Biological process | negative regulation of insulin secretion |
GO_0010994 | Biological process | free ubiquitin chain polymerization |
GO_0061734 | Biological process | parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization |
GO_0001933 | Biological process | negative regulation of protein phosphorylation |
GO_0099074 | Biological process | mitochondrion to lysosome vesicle-mediated transport |
GO_0050821 | Biological process | protein stabilization |
GO_0046329 | Biological process | negative regulation of JNK cascade |
GO_1901526 | Biological process | positive regulation of mitophagy |
GO_0007417 | Biological process | central nervous system development |
GO_0010637 | Biological process | negative regulation of mitochondrial fusion |
GO_1902283 | Biological process | negative regulation of primary amine oxidase activity |
GO_1905366 | Biological process | negative regulation of intralumenal vesicle formation |
GO_0001964 | Biological process | startle response |
GO_0000423 | Biological process | mitophagy |
GO_0042415 | Biological process | norepinephrine metabolic process |
GO_0006979 | Biological process | response to oxidative stress |
GO_0060828 | Biological process | regulation of canonical Wnt signaling pathway |
GO_0043161 | Biological process | proteasome-mediated ubiquitin-dependent protein catabolic process |
GO_0014059 | Biological process | regulation of dopamine secretion |
GO_0098779 | Biological process | positive regulation of mitophagy in response to mitochondrial depolarization |
GO_1903351 | Biological process | cellular response to dopamine |
GO_1901800 | Biological process | positive regulation of proteasomal protein catabolic process |
GO_0000209 | Biological process | protein polyubiquitination |
GO_1902236 | Biological process | negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway |
GO_0010629 | Biological process | negative regulation of gene expression |
GO_0007612 | Biological process | learning |
GO_0034976 | Biological process | response to endoplasmic reticulum stress |
GO_0032436 | Biological process | positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
GO_0010628 | Biological process | positive regulation of gene expression |
GO_0051865 | Biological process | protein autoubiquitination |
GO_0042417 | Biological process | dopamine metabolic process |
GO_0071287 | Biological process | cellular response to manganese ion |
GO_0031396 | Biological process | regulation of protein ubiquitination |
GO_0045732 | Biological process | positive regulation of protein catabolic process |
GO_0042981 | Biological process | regulation of apoptotic process |
GO_0010506 | Biological process | regulation of autophagy |
GO_1902254 | Biological process | negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator |
GO_0070534 | Biological process | protein K63-linked ubiquitination |
GO_1904049 | Biological process | negative regulation of spontaneous neurotransmitter secretion |
GO_0000422 | Biological process | autophagy of mitochondrion |
GO_0085020 | Biological process | protein K6-linked ubiquitination |
GO_0016567 | Biological process | protein ubiquitination |
GO_2000377 | Biological process | regulation of reactive oxygen species metabolic process |
GO_0034620 | Biological process | cellular response to unfolded protein |
GO_0070979 | Biological process | protein K11-linked ubiquitination |
GO_0010498 | Biological process | proteasomal protein catabolic process |
GO_0032092 | Biological process | positive regulation of protein binding |
GO_0090201 | Biological process | negative regulation of release of cytochrome c from mitochondria |
GO_0060544 | Biological process | regulation of necroptotic process |
GO_0006511 | Biological process | ubiquitin-dependent protein catabolic process |
GO_0044828 | Biological process | negative regulation by host of viral genome replication |
GO_0031648 | Biological process | protein destabilization |
GO_0034599 | Biological process | cellular response to oxidative stress |
GO_0007005 | Biological process | mitochondrion organization |
GO_0044314 | Biological process | protein K27-linked ubiquitination |
GO_1900407 | Biological process | regulation of cellular response to oxidative stress |
GO_0043388 | Biological process | positive regulation of DNA binding |
GO_0033132 | Biological process | negative regulation of glucokinase activity |
GO_0043524 | Biological process | negative regulation of neuron apoptotic process |
GO_0036503 | Biological process | ERAD pathway |
GO_0045944 | Biological process | positive regulation of transcription by RNA polymerase II |
GO_0000266 | Biological process | mitochondrial fission |
GO_0090141 | Biological process | positive regulation of mitochondrial fission |
GO_1903214 | Biological process | regulation of protein targeting to mitochondrion |
GO_1900242 | Biological process | regulation of synaptic vesicle endocytosis |
GO_0010636 | Biological process | positive regulation of mitochondrial fusion |
GO_0008344 | Biological process | adult locomotory behavior |
GO_0042053 | Biological process | regulation of dopamine metabolic process |
GO_1902803 | Biological process | regulation of synaptic vesicle transport |
GO_1905281 | Biological process | positive regulation of retrograde transport, endosome to Golgi |
GO_0051583 | Biological process | dopamine uptake involved in synaptic transmission |
GO_0010906 | Biological process | regulation of glucose metabolic process |
GO_1903861 | Biological process | positive regulation of dendrite extension |
GO_2000378 | Biological process | negative regulation of reactive oxygen species metabolic process |
GO_0000122 | Biological process | negative regulation of transcription by RNA polymerase II |
GO_0140251 | Biological process | regulation protein catabolic process at presynapse |
GO_0051881 | Biological process | regulation of mitochondrial membrane potential |
GO_0070050 | Biological process | neuron cellular homeostasis |
GO_1990000 | Biological process | amyloid fibril formation |
GO_0070936 | Biological process | protein K48-linked ubiquitination |
GO_1905477 | Biological process | positive regulation of protein localization to membrane |
GO_0043123 | Biological process | positive regulation of canonical NF-kappaB signal transduction |
GO_1903542 | Biological process | negative regulation of exosomal secretion |
GO_0032368 | Biological process | regulation of lipid transport |
GO_0070842 | Biological process | aggresome assembly |
GO_0097237 | Biological process | cellular response to toxic substance |
GO_1902530 | Biological process | positive regulation of protein linear polyubiquitination |
GO_0035519 | Biological process | protein K29-linked ubiquitination |
GO_0006513 | Biological process | protein monoubiquitination |
GO_0032232 | Biological process | negative regulation of actin filament bundle assembly |
GO_0051582 | Biological process | positive regulation of neurotransmitter uptake |
GO_0031647 | Biological process | regulation of protein stability |
GO_0035249 | Biological process | synaptic transmission, glutamatergic |
GO_0098793 | Cellular component | presynapse |
GO_0043005 | Cellular component | neuron projection |
GO_0005634 | Cellular component | nucleus |
GO_0098691 | Cellular component | dopaminergic synapse |
GO_0099073 | Cellular component | mitochondrion-derived vesicle |
GO_0097413 | Cellular component | Lewy body |
GO_0005739 | Cellular component | mitochondrion |
GO_0005794 | Cellular component | Golgi apparatus |
GO_0005783 | Cellular component | endoplasmic reticulum |
GO_0014069 | Cellular component | postsynaptic density |
GO_0005737 | Cellular component | cytoplasm |
GO_0005741 | Cellular component | mitochondrial outer membrane |
GO_0019005 | Cellular component | SCF ubiquitin ligase complex |
GO_0000151 | Cellular component | ubiquitin ligase complex |
GO_0048471 | Cellular component | perinuclear region of cytoplasm |
GO_0016607 | Cellular component | nuclear speck |
GO_0005829 | Cellular component | cytosol |
GO_1990452 | Cellular component | Parkin-FBXW7-Cul1 ubiquitin ligase complex |
GO_0016235 | Cellular component | aggresome |
GO_0042802 | Molecular function | identical protein binding |
GO_0031625 | Molecular function | ubiquitin protein ligase binding |
GO_0001664 | Molecular function | G protein-coupled receptor binding |
GO_0008270 | Molecular function | zinc ion binding |
GO_1990381 | Molecular function | ubiquitin-specific protease binding |
GO_0019900 | Molecular function | kinase binding |
GO_1990444 | Molecular function | F-box domain binding |
GO_0043274 | Molecular function | phospholipase binding |
GO_0030544 | Molecular function | Hsp70 protein binding |
GO_0003779 | Molecular function | actin binding |
GO_0043130 | Molecular function | ubiquitin binding |
GO_0017124 | Molecular function | SH3 domain binding |
GO_0042826 | Molecular function | histone deacetylase binding |
GO_0061630 | Molecular function | ubiquitin protein ligase activity |
GO_0019899 | Molecular function | enzyme binding |
GO_0031072 | Molecular function | heat shock protein binding |
GO_0030165 | Molecular function | PDZ domain binding |
GO_0051087 | Molecular function | protein-folding chaperone binding |
GO_0005515 | Molecular function | protein binding |
GO_0031624 | Molecular function | ubiquitin conjugating enzyme binding |
GO_0015631 | Molecular function | tubulin binding |
GO_0044877 | Molecular function | protein-containing complex binding |
GO_0019901 | Molecular function | protein kinase binding |
GO_0003714 | Molecular function | transcription corepressor activity |
GO_0097602 | Molecular function | cullin family protein binding |
GO_0008013 | Molecular function | beta-catenin binding |
GO_0004842 | Molecular function | ubiquitin-protein transferase activity |
Gene name | PRKN |
Protein name | Parkinson protein 2 E3 ubiquitin protein ligase isoform 3 Parkin RBR E3 ubiquitin protein ligase (Truncated parkin variant SV4,8DEL) (Truncated parkin variant SV4DEL (EC 6.3.2.19)) E3 ubiquitin-protein ligase parkin (Parkin) (EC 2.3.2.31) (Parkin RBR E3 ubiquitin-protein ligase) (Parkinson juvenile disease protein 2) (Parkinson disease protein 2) Parkin RBR E3 ubiquitin protein ligase (Truncated parkin variant SV3,8,9DEL (EC 6.3.2.19)) Parkinson disease (Autosomal recessive, juvenile) 2, parkin, isoform CRA_b (Parkinson protein 2 E3 ubiquitin protein ligase isoform 1) RBR-type E3 ubiquitin transferase (EC 2.3.2.31) E3 ubiquitin-protein ligase parkin (EC 2.3.2.31) Parkin RBR E3 ubiquitin protein ligase (Parkinson protein 2 E3 ubiquitin protein ligase isoform 2) PARK2 splice variant Parkin Truncated parkin variant SV1bINS (EC 6.3.2.19) Parkin RBR E3 ubiquitin protein ligase |
Synonyms | hCG_2029643 PARK2 |
Description | FUNCTION: Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins . Substrates include SYT11 and VDAC1 . Other substrates are BCL2, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPTIN5, TOMM20, USP30, ZNF746, MIRO1 and AIMP2 . Mediates monoubiquitination as well as 'Lys-6', 'Lys-11', 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination of substrates depending on the context . Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating 'Lys-63'-linked polyubiquitination of misfolded proteins such as PARK7: 'Lys-63'-linked polyubiquitinated misfolded proteins are then recognized by HDAC6, leading to their recruitment to aggresomes, followed by degradation . Mediates 'Lys-63'-linked polyubiquitination of a 22 kDa O-linked glycosylated isoform of SNCAIP, possibly playing a role in Lewy-body formation . Mediates monoubiquitination of BCL2, thereby acting as a positive regulator of autophagy . Protects against mitochondrial dysfunction during cellular stress, by acting downstream of PINK1 to coordinate mitochondrial quality control mechanisms that remove and replace dysfunctional mitochondrial components . Depending on the severity of mitochondrial damage and/or dysfunction, activity ranges from preventing apoptosis and stimulating mitochondrial biogenesis to regulating mitochondrial dynamics and eliminating severely damaged mitochondria via mitophagy . Activation and recruitment onto the outer membrane of damaged/dysfunctional mitochondria (OMM) requires PINK1-mediated phosphorylation of both PRKN and ubiquitin . After mitochondrial damage, functions with PINK1 to mediate the decision between mitophagy or preventing apoptosis by inducing either the poly- or monoubiquitination of VDAC1, respectively; polyubiquitination of VDAC1 promotes mitophagy, while monoubiquitination of VDAC1 decreases mitochondrial calcium influx which ultimately inhibits apoptosis . When cellular stress results in irreversible mitochondrial damage, promotes the autophagic degradation of dysfunctional depolarized mitochondria (mitophagy) by promoting the ubiquitination of mitochondrial proteins such as TOMM20, RHOT1/MIRO1, MFN1 and USP30 . Preferentially assembles 'Lys-6'-, 'Lys-11'- and 'Lys-63'-linked polyubiquitin chains, leading to mitophagy . The PINK1-PRKN pathway also promotes fission of damaged mitochondria by PINK1-mediated phosphorylation which promotes the PRKN-dependent degradation of mitochondrial proteins involved in fission such as MFN2 . This prevents the refusion of unhealthy mitochondria with the mitochondrial network or initiates mitochondrial fragmentation facilitating their later engulfment by autophagosomes . Regulates motility of damaged mitochondria via the ubiquitination and subsequent degradation of MIRO1 and MIRO2; in motor neurons, this likely inhibits mitochondrial intracellular anterograde transport along the axons which probably increases the chance of the mitochondria undergoing mitophagy in the soma . Involved in mitochondrial biogenesis via the 'Lys-48'-linked polyubiquitination of transcriptional repressor ZNF746/PARIS which leads to its subsequent proteasomal degradation and allows activation of the transcription factor PPARGC1A . Limits the production of reactive oxygen species (ROS) . Regulates cyclin-E during neuronal apoptosis . In collaboration with CHPF isoform 2, may enhance cell viability and protect cells from oxidative stress . Independently of its ubiquitin ligase activity, protects from apoptosis by the transcriptional repression of p53/TP53 . May protect neurons against alpha synuclein toxicity, proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity . May play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis. May represent a tumor suppressor gene . . |
Accessions | ENST00000647006.2 A0A1W5XGE1 D3K2X1 D3K2X2 A0A6I8PRS9 M4T2U2 ENST00000366892.5 A0A1W5XGE7 D3JZW5 A0A1W5XGD7 Q6S8G7 A0A669KBE3 Q6Q2I7 A0A0S2Z447 B1AKC3 O60260 X5DNX0 X5DR79 ENST00000366896.5 [O60260-6] Q5XNR7 M4T4F2 Q6Q2I8 ENST00000673871.1 ENST00000674250.1 ENST00000366898.6 [O60260-1] ENST00000338468.8 ENST00000479615.5 [O60260-3] A0A6I8PII0 S4X465 ENST00000366897.5 [O60260-2] Q5XNR8 A0A0S2Z446 ENST00000366894.6 |