Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| fibroblast | 14 studies | 20% ± 5% | |
| ciliated cell | 12 studies | 31% ± 13% | |
| endothelial cell | 12 studies | 28% ± 11% | |
| oligodendrocyte precursor cell | 9 studies | 30% ± 13% | |
| retinal rod cell | 8 studies | 41% ± 9% | |
| glutamatergic neuron | 7 studies | 39% ± 24% | |
| macrophage | 7 studies | 22% ± 6% | |
| GABAergic neuron | 7 studies | 35% ± 20% | |
| endothelial cell of lymphatic vessel | 6 studies | 18% ± 3% | |
| type I pneumocyte | 6 studies | 22% ± 3% | |
| interneuron | 6 studies | 35% ± 22% | |
| microglial cell | 6 studies | 24% ± 6% | |
| epithelial cell | 6 studies | 39% ± 17% | |
| retinal cone cell | 6 studies | 40% ± 15% | |
| oligodendrocyte | 6 studies | 25% ± 6% | |
| B cell | 5 studies | 20% ± 3% | |
| basal cell | 5 studies | 28% ± 10% | |
| astrocyte | 5 studies | 28% ± 8% | |
| natural killer cell | 4 studies | 19% ± 3% | |
| neuron | 4 studies | 31% ± 8% | |
| myofibroblast cell | 4 studies | 21% ± 4% | |
| pericyte | 4 studies | 21% ± 4% | |
| plasma cell | 4 studies | 30% ± 10% | |
| lymphocyte | 4 studies | 22% ± 5% | |
| goblet cell | 4 studies | 26% ± 14% | |
| T cell | 3 studies | 16% ± 1% | |
| smooth muscle cell | 3 studies | 16% ± 1% | |
| secretory cell | 3 studies | 20% ± 5% | |
| naive thymus-derived CD4-positive, alpha-beta T cell | 3 studies | 18% ± 3% | |
| CD16-positive, CD56-dim natural killer cell, human | 3 studies | 19% ± 3% | |
| CD8-positive, alpha-beta T cell | 3 studies | 19% ± 4% | |
| classical monocyte | 3 studies | 26% ± 7% | |
| plasmablast | 3 studies | 28% ± 8% | |
| abnormal cell | 3 studies | 24% ± 7% | |
| retinal bipolar neuron | 3 studies | 18% ± 2% | |
| GABAergic interneuron | 3 studies | 21% ± 6% | |
| granule cell | 3 studies | 20% ± 2% | |
| progenitor cell | 3 studies | 18% ± 1% | |
| club cell | 3 studies | 23% ± 2% | |
| amacrine cell | 3 studies | 21% ± 5% | |
| retina horizontal cell | 3 studies | 24% ± 3% | |
| cardiac muscle cell | 3 studies | 24% ± 5% | |
| luminal hormone-sensing cell of mammary gland | 3 studies | 18% ± 0% | |
| enteroendocrine cell | 3 studies | 22% ± 6% | |
| gamma-delta T cell | 3 studies | 21% ± 8% | |
| transit amplifying cell | 3 studies | 27% ± 10% | |
| adipocyte | 3 studies | 27% ± 10% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| esophagus | 100% | 5795.81 | 1445 / 1445 | 100% | 42.10 | 183 / 183 |
| lung | 100% | 6846.21 | 578 / 578 | 100% | 47.51 | 1155 / 1155 |
| ovary | 100% | 9058.24 | 180 / 180 | 100% | 32.38 | 430 / 430 |
| stomach | 100% | 5492.31 | 359 / 359 | 100% | 36.88 | 286 / 286 |
| breast | 100% | 7943.01 | 459 / 459 | 100% | 62.77 | 1117 / 1118 |
| prostate | 100% | 6935.89 | 245 / 245 | 100% | 49.98 | 501 / 502 |
| intestine | 100% | 6959.08 | 966 / 966 | 100% | 38.54 | 525 / 527 |
| bladder | 100% | 6696.67 | 21 / 21 | 100% | 41.51 | 502 / 504 |
| kidney | 100% | 5467.88 | 89 / 89 | 100% | 42.97 | 897 / 901 |
| thymus | 100% | 9170.19 | 653 / 653 | 100% | 63.35 | 602 / 605 |
| pancreas | 100% | 4192.34 | 328 / 328 | 99% | 44.67 | 177 / 178 |
| brain | 99% | 5114.04 | 2620 / 2642 | 100% | 35.51 | 705 / 705 |
| skin | 100% | 6919.43 | 1809 / 1809 | 99% | 47.46 | 468 / 472 |
| uterus | 100% | 8217.80 | 170 / 170 | 99% | 44.70 | 455 / 459 |
| adrenal gland | 100% | 6416.18 | 258 / 258 | 98% | 45.27 | 225 / 230 |
| liver | 100% | 3372.95 | 226 / 226 | 94% | 21.25 | 380 / 406 |
| adipose | 100% | 7214.48 | 1204 / 1204 | 0% | 0 | 0 / 0 |
| blood vessel | 100% | 7898.35 | 1335 / 1335 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 100% | 29.88 | 29 / 29 |
| spleen | 100% | 6526.48 | 241 / 241 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 100% | 40.65 | 45 / 45 |
| ureter | 0% | 0 | 0 / 0 | 100% | 14.51 | 1 / 1 |
| muscle | 99% | 2757.01 | 797 / 803 | 0% | 0 | 0 / 0 |
| heart | 99% | 6022.69 | 854 / 861 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 96% | 32.82 | 77 / 80 |
| peripheral blood | 83% | 2353.00 | 767 / 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_0007040 | Biological process | lysosome organization |
| GO_0031293 | Biological process | membrane protein intracellular domain proteolysis |
| GO_0034976 | Biological process | response to endoplasmic reticulum stress |
| GO_0008203 | Biological process | cholesterol metabolic process |
| GO_0060627 | Biological process | regulation of vesicle-mediated transport |
| GO_0036500 | Biological process | ATF6-mediated unfolded protein response |
| GO_0016485 | Biological process | protein processing |
| GO_0007095 | Biological process | mitotic G2 DNA damage checkpoint signaling |
| GO_0030968 | Biological process | endoplasmic reticulum unfolded protein response |
| GO_0006508 | Biological process | proteolysis |
| GO_0045540 | Biological process | regulation of cholesterol biosynthetic process |
| GO_0051604 | Biological process | protein maturation |
| GO_0005795 | Cellular component | Golgi stack |
| GO_0005789 | Cellular component | endoplasmic reticulum membrane |
| GO_0005794 | Cellular component | Golgi apparatus |
| GO_0000139 | Cellular component | Golgi membrane |
| GO_0005788 | Cellular component | endoplasmic reticulum lumen |
| GO_0005515 | Molecular function | protein binding |
| GO_0004252 | Molecular function | serine-type endopeptidase activity |
| Gene name | MBTPS1 |
| Protein name | Membrane-bound transcription factor site-1 protease (EC 3.4.21.112) (Endopeptidase S1P) (Subtilisin/kexin-isozyme 1) (SKI-1) Alternative protein MBTPS1 Membrane bound transcription factor peptidase, site 1 |
| Synonyms | S1P SKI1 KIAA0091 |
| Description | FUNCTION: Serine protease that cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4: known substrates include SREBF1/SREBP1, SREBF2/SREBP2, BDNF, GNPTAB, ATF6, ATF6B and FAM20C . Cleaves substrates after Arg-Ser-Val-Leu (SREBP2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu . Catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 . Also mediates the first step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) . Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes . Cleaves the propeptide from FAM20C which is required for FAM20C secretion from the Golgi apparatus membrane and for enhancement of FAM20C kinase activity, promoting osteoblast differentiation and biomineralization . Involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes . It is required for the activation of CREB3L2/BBF2H7, a transcriptional activator of MIA3/TANGO and other genes controlling mega vesicle formation . Therefore, it plays a key role in the regulation of mega vesicle-mediated collagen trafficking . In astrocytes and osteoblasts, upon DNA damage and ER stress, mediates the first step of the regulated intramembrane proteolytic activation of the transcription factor CREB3L1, leading to the inhibition of cell-cycle progression . . |
| Accessions | ENST00000563231.5 H3BV53 L8E7W9 H3BS61 ENST00000562788.2 ENST00000692460.1 H3BU75 A0A087WXJ6 Q14703 A0A8I5KPA5 ENST00000569907.5 ENST00000343411.8 ENST00000570012.1 |