Name | Number of supported studies | Average coverage | |
---|---|---|---|
pancreatic A cell | 4 studies | 30% ± 9% | |
fibroblast | 3 studies | 31% ± 9% | |
epithelial cell | 3 studies | 23% ± 6% | |
type I pneumocyte | 3 studies | 19% ± 4% |
Name | Number of supported studies | Average coverage | |
---|---|---|---|
pancreas | 3 studies | 27% ± 9% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
liver | 100% | 4340.33 | 226 / 226 | 100% | 74.24 | 406 / 406 |
thymus | 100% | 3702.56 | 653 / 653 | 100% | 89.03 | 605 / 605 |
brain | 100% | 2204.00 | 2634 / 2642 | 100% | 81.35 | 705 / 705 |
prostate | 100% | 2879.95 | 245 / 245 | 100% | 102.47 | 500 / 502 |
adrenal gland | 100% | 3498.12 | 258 / 258 | 100% | 99.23 | 229 / 230 |
kidney | 100% | 5345.46 | 89 / 89 | 99% | 73.24 | 896 / 901 |
pancreas | 100% | 1726.34 | 328 / 328 | 99% | 61.28 | 177 / 178 |
skin | 100% | 3929.70 | 1809 / 1809 | 99% | 91.63 | 468 / 472 |
breast | 100% | 2216.85 | 459 / 459 | 98% | 51.68 | 1100 / 1118 |
lung | 100% | 3471.06 | 578 / 578 | 98% | 42.14 | 1130 / 1155 |
uterus | 100% | 2114.81 | 170 / 170 | 97% | 39.01 | 447 / 459 |
ovary | 100% | 1887.96 | 180 / 180 | 97% | 35.52 | 415 / 430 |
stomach | 100% | 1998.92 | 359 / 359 | 96% | 34.04 | 274 / 286 |
intestine | 100% | 2426.18 | 966 / 966 | 95% | 33.65 | 502 / 527 |
esophagus | 100% | 2107.65 | 1445 / 1445 | 94% | 29.90 | 172 / 183 |
bladder | 100% | 2447.71 | 21 / 21 | 93% | 35.60 | 467 / 504 |
adipose | 100% | 2239.47 | 1204 / 1204 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 100% | 78.43 | 80 / 80 |
lymph node | 0% | 0 | 0 / 0 | 100% | 40.18 | 29 / 29 |
muscle | 100% | 2407.80 | 803 / 803 | 0% | 0 | 0 / 0 |
spleen | 100% | 2234.33 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 35.75 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 12.09 | 1 / 1 |
blood vessel | 100% | 2651.77 | 1331 / 1335 | 0% | 0 | 0 / 0 |
heart | 99% | 3207.61 | 850 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 94% | 1126.28 | 870 / 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_0001778 | Biological process | plasma membrane repair |
GO_0006685 | Biological process | sphingomyelin catabolic process |
GO_0006684 | Biological process | sphingomyelin metabolic process |
GO_0034644 | Biological process | cellular response to UV |
GO_0010212 | Biological process | response to ionizing radiation |
GO_0007165 | Biological process | signal transduction |
GO_0009615 | Biological process | response to virus |
GO_0008203 | Biological process | cholesterol metabolic process |
GO_0046598 | Biological process | positive regulation of viral entry into host cell |
GO_0045807 | Biological process | positive regulation of endocytosis |
GO_0070555 | Biological process | response to interleukin-1 |
GO_0023021 | Biological process | termination of signal transduction |
GO_0034612 | Biological process | response to tumor necrosis factor |
GO_0046513 | Biological process | ceramide biosynthetic process |
GO_0071277 | Biological process | cellular response to calcium ion |
GO_0046479 | Biological process | glycosphingolipid catabolic process |
GO_0042060 | Biological process | wound healing |
GO_0042220 | Biological process | response to cocaine |
GO_0046718 | Biological process | symbiont entry into host cell |
GO_0043407 | Biological process | negative regulation of MAP kinase activity |
GO_0009410 | Biological process | response to xenobiotic stimulus |
GO_0043065 | Biological process | positive regulation of apoptotic process |
GO_0034340 | Biological process | response to type I interferon |
GO_0007399 | Biological process | nervous system development |
GO_0035307 | Biological process | positive regulation of protein dephosphorylation |
GO_0005615 | Cellular component | extracellular space |
GO_0005886 | Cellular component | plasma membrane |
GO_0005811 | Cellular component | lipid droplet |
GO_0042599 | Cellular component | lamellar body |
GO_0005764 | Cellular component | lysosome |
GO_0070062 | Cellular component | extracellular exosome |
GO_0036019 | Cellular component | endolysosome |
GO_0043202 | Cellular component | lysosomal lumen |
GO_0005768 | Cellular component | endosome |
GO_0004767 | Molecular function | sphingomyelin phosphodiesterase activity |
GO_0016798 | Molecular function | hydrolase activity, acting on glycosyl bonds |
GO_0008270 | Molecular function | zinc ion binding |
GO_0034480 | Molecular function | phosphatidylcholine phospholipase C activity |
GO_0005515 | Molecular function | protein binding |
GO_0061750 | Molecular function | acid sphingomyelin phosphodiesterase activity |
Gene name | SMPD1 |
Protein name | Sphingomyelin phosphodiesterase Sphingomyelin phosphodiesterase 1 isoform 7 (EC 3.1.4.12) Sphingomyelin phosphodiesterase (EC 3.1.4.12) (EC 3.1.4.3) (Acid sphingomyelinase) (aSMase) [Cleaved into: Sphingomyelin phosphodiesterase, processed form] Sphingomyelin phosphodiesterase 1 isoform 6 (EC 3.1.4.12) Sphingomyelin phosphodiesterase 1 Sphingomyelin phosphodiesterase (EC 3.1.4.12) SMPD1 protein |
Synonyms | ASM hCG_24080 |
Description | FUNCTION: Converts sphingomyelin to ceramide . Exists as two enzymatic forms that arise from alternative trafficking of a single protein precursor, one that is targeted to the endolysosomal compartment, whereas the other is released extracellularly . However, in response to various forms of stress, lysosomal exocytosis may represent a major source of the secretory form . .; FUNCTION: In the lysosomes, converts sphingomyelin to ceramide . Plays an important role in the export of cholesterol from the intraendolysosomal membranes . Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol . Modulates stress-induced apoptosis through the production of ceramide . .; FUNCTION: When secreted, modulates cell signaling with its ability to reorganize the plasma membrane by converting sphingomyelin to ceramide . Secreted form is increased in response to stress and inflammatory mediators such as IL1B, IFNG or TNF as well as upon infection with bacteria and viruses . Produces the release of ceramide in the outer leaflet of the plasma membrane playing a central role in host defense . Ceramide reorganizes these rafts into larger signaling platforms that are required to internalize P. aeruginosa, induce apoptosis and regulate the cytokine response in infected cells . In wounded cells, the lysosomal form is released extracellularly in the presence of Ca(2+) and promotes endocytosis and plasma membrane repair . .; FUNCTION: [Sphingomyelin phosphodiesterase, processed form]: This form is generated following cleavage by CASP7 in the extracellular milieu in response to bacterial infection . It shows increased ability to convert sphingomyelin to ceramide and promotes plasma membrane repair (By similarity). Plasma membrane repair by ceramide counteracts the action of gasdermin-D (GSDMD) perforin (PRF1) pores that are formed in response to bacterial infection (By similarity). .; FUNCTION: (Microbial infection) Secretion is activated by bacteria such as P. aeruginos, N. gonorrhoeae and others, this activation results in the release of ceramide in the outer leaflet of the plasma membrane which facilitates the infection. .; FUNCTION: (Microbial infection) Secretion is activated by human coronaviruses SARS-CoV and SARS-CoV-2 as well as Zaire ebolavirus, this activation results in the release of ceramide in the outer leaflet of the plasma membrane which facilitates the infection. .; FUNCTION: [Isoform 2]: Lacks residues that bind the cofactor Zn(2+) and has no enzyme activity. .; FUNCTION: [Isoform 3]: Lacks residues that bind the cofactor Zn(2+) and has no enzyme activity. . FUNCTION: Converts sphingomyelin to ceramide. . FUNCTION: Converts sphingomyelin to ceramide. . |
Accessions | E9LUE8 ENST00000533123.5 ENST00000534405.5 E9PPK6 Q8IUN0 ENST00000530395.1 Q15495 Q15496 ENST00000531303.5 P17405 ENST00000527275.5 [P17405-4] ENST00000526280.1 E9LUE7 ENST00000342245.9 [P17405-1] E9PL59 G3V1E1 H0YEP5 E9PQT3 Q8TEY3 E9LUE9 Q15494 E9LUE6 |