Tissue | GTEx Coverage  | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| skin | 100% | 4755.75 | 1809 / 1809 | 100% | 48.79 | 472 / 472 |
| esophagus | 100% | 3102.63 | 1444 / 1445 | 100% | 35.06 | 183 / 183 |
| lung | 100% | 5741.97 | 578 / 578 | 100% | 27.44 | 1150 / 1155 |
| brain | 100% | 3032.78 | 2632 / 2642 | 100% | 28.22 | 703 / 705 |
| stomach | 100% | 2636.74 | 359 / 359 | 99% | 17.60 | 284 / 286 |
| breast | 100% | 3313.72 | 459 / 459 | 99% | 18.75 | 1106 / 1118 |
| intestine | 100% | 2338.01 | 966 / 966 | 98% | 15.56 | 519 / 527 |
| kidney | 100% | 2445.01 | 89 / 89 | 98% | 23.01 | 887 / 901 |
| uterus | 100% | 2929.65 | 170 / 170 | 97% | 20.83 | 444 / 459 |
| thymus | 100% | 1958.25 | 651 / 653 | 94% | 11.93 | 571 / 605 |
| bladder | 100% | 2662.48 | 21 / 21 | 94% | 14.34 | 474 / 504 |
| prostate | 100% | 2354.94 | 244 / 245 | 93% | 10.76 | 468 / 502 |
| adrenal gland | 100% | 11436.65 | 258 / 258 | 93% | 15.30 | 213 / 230 |
| ovary | 100% | 2724.48 | 180 / 180 | 88% | 9.43 | 379 / 430 |
| pancreas | 88% | 915.15 | 287 / 328 | 98% | 18.01 | 175 / 178 |
| liver | 92% | 1324.71 | 209 / 226 | 84% | 10.44 | 343 / 406 |
| adipose | 100% | 3096.28 | 1204 / 1204 | 0% | 0 | 0 / 0 |
| blood vessel | 100% | 3363.69 | 1335 / 1335 | 0% | 0 | 0 / 0 |
| spleen | 100% | 2501.41 | 241 / 241 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 99% | 25.16 | 79 / 80 |
| tonsil | 0% | 0 | 0 / 0 | 96% | 23.18 | 43 / 45 |
| heart | 91% | 1233.85 | 782 / 861 | 0% | 0 | 0 / 0 |
| muscle | 90% | 2322.80 | 720 / 803 | 0% | 0 | 0 / 0 |
| peripheral blood | 84% | 1836.57 | 778 / 929 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 83% | 12.37 | 24 / 29 |
| 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_0007628 | Biological process | adult walking behavior |
| GO_0006897 | Biological process | endocytosis |
| GO_0008206 | Biological process | bile acid metabolic process |
| GO_0016242 | Biological process | negative regulation of macroautophagy |
| GO_0030299 | Biological process | intestinal cholesterol absorption |
| GO_0012501 | Biological process | programmed cell death |
| GO_0007041 | Biological process | lysosomal transport |
| GO_0008203 | Biological process | cholesterol metabolic process |
| GO_0071383 | Biological process | cellular response to steroid hormone stimulus |
| GO_0032367 | Biological process | intracellular cholesterol transport |
| GO_0016236 | Biological process | macroautophagy |
| GO_0001889 | Biological process | liver development |
| GO_2000900 | Biological process | cyclodextrin metabolic process |
| GO_0010878 | Biological process | cholesterol storage |
| GO_0046686 | Biological process | response to cadmium ion |
| GO_0046718 | Biological process | symbiont entry into host cell |
| GO_0071404 | Biological process | cellular response to low-density lipoprotein particle stimulus |
| GO_0022008 | Biological process | neurogenesis |
| GO_0090150 | Biological process | establishment of protein localization to membrane |
| GO_1904036 | Biological process | negative regulation of epithelial cell apoptotic process |
| GO_0006914 | Biological process | autophagy |
| GO_0010467 | Biological process | gene expression |
| GO_0033344 | Biological process | cholesterol efflux |
| GO_0009410 | Biological process | response to xenobiotic stimulus |
| GO_0031579 | Biological process | membrane raft organization |
| GO_1904262 | Biological process | negative regulation of TORC1 signaling |
| GO_0030301 | Biological process | cholesterol transport |
| GO_0006486 | Biological process | protein glycosylation |
| GO_0042632 | Biological process | cholesterol homeostasis |
| GO_0032365 | Biological process | intracellular lipid transport |
| GO_0031902 | Cellular component | late endosome membrane |
| GO_0005576 | Cellular component | extracellular region |
| GO_0005886 | Cellular component | plasma membrane |
| GO_0045121 | Cellular component | membrane raft |
| GO_0048471 | Cellular component | perinuclear region of cytoplasm |
| GO_0016020 | Cellular component | membrane |
| GO_0005764 | Cellular component | lysosome |
| GO_0070062 | Cellular component | extracellular exosome |
| GO_0005794 | Cellular component | Golgi apparatus |
| GO_0005635 | Cellular component | nuclear envelope |
| GO_0005783 | Cellular component | endoplasmic reticulum |
| GO_0005765 | Cellular component | lysosomal membrane |
| GO_0038023 | Molecular function | signaling receptor activity |
| GO_0015485 | Molecular function | cholesterol binding |
| GO_0004888 | Molecular function | transmembrane signaling receptor activity |
| GO_0001618 | Molecular function | virus receptor activity |
| GO_0005319 | Molecular function | lipid transporter activity |
| GO_0005515 | Molecular function | protein binding |
| Gene name | NPC1 |
| Protein name | Niemann-Pick C1 protein NPC intracellular cholesterol transporter 1 (Niemann-Pick C1 protein) NPC intracellular cholesterol transporter 1 Truncated Niemann-Pick C1 Niemann-Pick C1 |
| Synonyms | |
| Description | FUNCTION: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment . Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 . Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket . Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable). Inhibits cholesterol-mediated mTORC1 activation throught its interaction with SLC38A9 . .; FUNCTION: (Microbial infection) Acts as an endosomal entry receptor for ebolavirus. . |
| Accessions | A0A0A8JCD0 ENST00000593280.2 A0A193DRS0 A0A0S2A5C8 K7ENZ0 K7ERM4 K7ERW2 ENST00000591107.6 K7EIH7 ENST00000591051.1 ENST00000590723.5 ENST00000586150.5 ENST00000269228.10 [O15118-1] O15118 K7EQ23 |
