Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| endothelial cell | 4 studies | 19% ± 4% | |
| fibroblast | 4 studies | 24% ± 7% | |
| B cell | 3 studies | 25% ± 9% | |
| epithelial cell | 3 studies | 40% ± 1% | |
| ciliated cell | 3 studies | 24% ± 5% | |
| GABAergic neuron | 3 studies | 21% ± 4% | |
| astrocyte | 3 studies | 20% ± 6% | |
| glutamatergic neuron | 3 studies | 25% ± 4% | |
| dendritic cell | 3 studies | 20% ± 5% | |
| basal cell | 3 studies | 24% ± 6% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| thymus | 100% | 3662.70 | 653 / 653 | 98% | 2.91 | 592 / 605 |
| kidney | 100% | 1570.21 | 89 / 89 | 90% | 1.94 | 807 / 901 |
| brain | 99% | 688.19 | 2608 / 2642 | 89% | 1.55 | 628 / 705 |
| pancreas | 99% | 696.74 | 326 / 328 | 85% | 1.34 | 151 / 178 |
| prostate | 100% | 1133.99 | 245 / 245 | 81% | 1.24 | 405 / 502 |
| breast | 100% | 1418.43 | 459 / 459 | 73% | 1.24 | 814 / 1118 |
| esophagus | 100% | 967.85 | 1445 / 1445 | 67% | 1.13 | 123 / 183 |
| adrenal gland | 100% | 1076.71 | 258 / 258 | 63% | 0.95 | 145 / 230 |
| stomach | 100% | 910.01 | 359 / 359 | 57% | 0.94 | 164 / 286 |
| ovary | 100% | 1776.26 | 180 / 180 | 56% | 0.96 | 242 / 430 |
| skin | 100% | 1062.21 | 1809 / 1809 | 56% | 0.89 | 262 / 472 |
| lung | 100% | 1113.24 | 578 / 578 | 54% | 0.88 | 628 / 1155 |
| uterus | 100% | 1339.74 | 170 / 170 | 50% | 0.75 | 230 / 459 |
| intestine | 100% | 1062.50 | 966 / 966 | 50% | 0.75 | 264 / 527 |
| bladder | 100% | 1073.48 | 21 / 21 | 46% | 0.77 | 234 / 504 |
| liver | 100% | 575.45 | 225 / 226 | 15% | 0.22 | 60 / 406 |
| adipose | 100% | 1392.61 | 1204 / 1204 | 0% | 0 | 0 / 0 |
| blood vessel | 100% | 1624.78 | 1335 / 1335 | 0% | 0 | 0 / 0 |
| spleen | 100% | 949.11 | 241 / 241 | 0% | 0 | 0 / 0 |
| heart | 97% | 646.06 | 837 / 861 | 0% | 0 | 0 / 0 |
| muscle | 93% | 381.14 | 744 / 803 | 0% | 0 | 0 / 0 |
| peripheral blood | 62% | 353.50 | 580 / 929 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 55% | 0.72 | 16 / 29 |
| tonsil | 0% | 0 | 0 / 0 | 38% | 0.52 | 17 / 45 |
| eye | 0% | 0 | 0 / 0 | 30% | 0.39 | 24 / 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 |
| ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
| GO_0006465 | Biological process | signal peptide processing |
| GO_0007040 | Biological process | lysosome organization |
| GO_0007601 | Biological process | visual perception |
| GO_1904426 | Biological process | positive regulation of GTP binding |
| GO_0007042 | Biological process | lysosomal lumen acidification |
| GO_0070085 | Biological process | glycosylation |
| GO_0042147 | Biological process | retrograde transport, endosome to Golgi |
| GO_0042551 | Biological process | neuron maturation |
| GO_0022008 | Biological process | neurogenesis |
| GO_0030163 | Biological process | protein catabolic process |
| GO_0007420 | Biological process | brain development |
| GO_0048471 | Cellular component | perinuclear region of cytoplasm |
| GO_0016020 | Cellular component | membrane |
| GO_0005764 | Cellular component | lysosome |
| GO_0005775 | Cellular component | vacuolar lumen |
| GO_0070062 | Cellular component | extracellular exosome |
| GO_0005794 | Cellular component | Golgi apparatus |
| GO_0005783 | Cellular component | endoplasmic reticulum |
| GO_0005829 | Cellular component | cytosol |
| GO_0005765 | Cellular component | lysosomal membrane |
| GO_0052816 | Molecular function | long-chain fatty acyl-CoA hydrolase activity |
| GO_0005537 | Molecular function | D-mannose binding |
| GO_0016798 | Molecular function | hydrolase activity, acting on glycosyl bonds |
| GO_0160121 | Molecular function | bis(monoacylglycero)phosphate synthase activity |
| GO_0005515 | Molecular function | protein binding |
| Gene name | CLN5 |
| Protein name | CLN5 intracellular trafficking protein Bis(monoacylglycero)phosphate synthase CLN5 (BMP synthase CLN5) (EC 2.3.1.-) (Ceroid-lipofuscinosis neuronal protein 5) (Protein CLN5) (Palmitoyl protein thioesterase CLN5) (EC 3.1.2.22) (S-depalmitoylase CLN5) [Cleaved into: Bis(monoacylglycero)phosphate synthase CLN5, secreted form] |
| Synonyms | BMPS |
| Description | FUNCTION: [Bis(monoacylglycero)phosphate synthase CLN5, secreted form]: Catalyzes the synthesis of bis(monoacylglycero)phosphate (BMP) via transacylation of 2 molecules of lysophosphatidylglycerol (LPG) . BMP also known as lysobisphosphatidic acid plays a key role in the formation of intraluminal vesicles and in maintaining intracellular cholesterol homeostasis . Can use only LPG as the exclusive lysophospholipid acyl donor for base exchange and displays BMP synthase activity towards various LPGs (LPG 14:0, LPG 16:0, LPG 18:0, LPG 18:1) with a higher preference for longer chain lengths . Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane . Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane . .; FUNCTION: Exhibits palmitoyl protein thioesterase (S-depalmitoylation) activity in vitro and most likely plays a role in protein S-depalmitoylation. . |
| Accessions | ENST00000637537.2 A0A1B0GWI2 A0A1B0GTV7 A0A1B0GV94 ENST00000616833.6 ENST00000636681.1 ENST00000636183.2 A0A1C7CYZ2 ENST00000377453.9 ENST00000635915.1 ENST00000636705.1 A0A1B0GTR6 ENST00000636525.2 A0A087WZY0 A0A1B0GUE8 O75503 ENST00000636780.2 A0A1B0GVL0 ENST00000636767.2 A0A1B0GU14 ENST00000637397.2 ENST00000485938.4 |
