Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
thymus | 99% | 7975.09 | 649 / 653 | 98% | 10.73 | 590 / 605 |
lung | 100% | 8900.12 | 576 / 578 | 87% | 8.16 | 1008 / 1155 |
esophagus | 94% | 3662.87 | 1359 / 1445 | 89% | 10.48 | 162 / 183 |
uterus | 100% | 7703.60 | 170 / 170 | 80% | 7.06 | 367 / 459 |
breast | 100% | 7412.53 | 459 / 459 | 77% | 4.15 | 860 / 1118 |
bladder | 100% | 5565.67 | 21 / 21 | 71% | 5.95 | 360 / 504 |
skin | 99% | 10172.78 | 1790 / 1809 | 57% | 3.74 | 270 / 472 |
prostate | 97% | 6029.67 | 238 / 245 | 58% | 2.30 | 292 / 502 |
kidney | 82% | 2851.78 | 73 / 89 | 70% | 5.26 | 635 / 901 |
brain | 100% | 11767.90 | 2633 / 2642 | 51% | 1.77 | 362 / 705 |
intestine | 96% | 5235.67 | 928 / 966 | 49% | 2.68 | 258 / 527 |
ovary | 100% | 4557.12 | 180 / 180 | 27% | 1.11 | 116 / 430 |
stomach | 60% | 1661.09 | 214 / 359 | 57% | 3.02 | 163 / 286 |
pancreas | 9% | 210.10 | 29 / 328 | 93% | 8.29 | 166 / 178 |
spleen | 100% | 17854.68 | 241 / 241 | 0% | 0 | 0 / 0 |
ureter | 0% | 0 | 0 / 0 | 100% | 4.49 | 1 / 1 |
adipose | 100% | 8672.18 | 1203 / 1204 | 0% | 0 | 0 / 0 |
peripheral blood | 99% | 11941.91 | 920 / 929 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 96% | 12.43 | 43 / 45 |
blood vessel | 94% | 4820.79 | 1249 / 1335 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 93% | 12.54 | 27 / 29 |
adrenal gland | 45% | 1675.37 | 116 / 258 | 44% | 2.23 | 102 / 230 |
heart | 86% | 2944.63 | 741 / 861 | 0% | 0 | 0 / 0 |
liver | 8% | 189.21 | 19 / 226 | 38% | 2.09 | 155 / 406 |
muscle | 26% | 560.63 | 207 / 803 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 4% | 0.13 | 3 / 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 |
GO_0006919 | Biological process | activation of cysteine-type endopeptidase activity involved in apoptotic process |
GO_0051260 | Biological process | protein homooligomerization |
GO_0002221 | Biological process | pattern recognition receptor signaling pathway |
GO_0032495 | Biological process | response to muramyl dipeptide |
GO_0007165 | Biological process | signal transduction |
GO_0051607 | Biological process | defense response to virus |
GO_0070269 | Biological process | pyroptotic inflammatory response |
GO_0050727 | Biological process | regulation of inflammatory response |
GO_0071493 | Biological process | cellular response to UV-B |
GO_0032731 | Biological process | positive regulation of interleukin-1 beta production |
GO_0051402 | Biological process | neuron apoptotic process |
GO_0042981 | Biological process | regulation of apoptotic process |
GO_0097264 | Biological process | self proteolysis |
GO_0042742 | Biological process | defense response to bacterium |
GO_1904784 | Biological process | NLRP1 inflammasome complex assembly |
GO_0006915 | Biological process | apoptotic process |
GO_0050729 | Biological process | positive regulation of inflammatory response |
GO_0140374 | Biological process | antiviral innate immune response |
GO_0072558 | Cellular component | NLRP1 inflammasome complex |
GO_0005730 | Cellular component | nucleolus |
GO_0005654 | Cellular component | nucleoplasm |
GO_0005829 | Cellular component | cytosol |
GO_0005737 | Cellular component | cytoplasm |
GO_0061702 | Cellular component | canonical inflammasome complex |
GO_0005634 | Cellular component | nucleus |
GO_0019899 | Molecular function | enzyme binding |
GO_0008233 | Molecular function | peptidase activity |
GO_0038187 | Molecular function | pattern recognition receptor activity |
GO_0019904 | Molecular function | protein domain specific binding |
GO_0003690 | Molecular function | double-stranded DNA binding |
GO_0008656 | Molecular function | cysteine-type endopeptidase activator activity involved in apoptotic process |
GO_0035591 | Molecular function | signaling adaptor activity |
GO_0140693 | Molecular function | molecular condensate scaffold activity |
GO_0005524 | Molecular function | ATP binding |
GO_0140608 | Molecular function | cysteine-type endopeptidase activator activity |
GO_0005515 | Molecular function | protein binding |
GO_0016887 | Molecular function | ATP hydrolysis activity |
GO_0003725 | Molecular function | double-stranded RNA binding |
Gene name | NLRP1 |
Protein name | NACHT, LRR and PYD domains-containing protein 1 NLRP1 protein NLR family pyrin domain containing 1 NACHT, LRR and PYD domains-containing protein 1 (EC 3.4.-.-) (EC 3.6.4.-) (Caspase recruitment domain-containing protein 7) (Death effector filament-forming ced-4-like apoptosis protein) (Nucleotide-binding domain and caspase recruitment domain) [Cleaved into: NACHT, LRR and PYD domains-containing protein 1, C-terminus (NLRP1-CT); NACHT, LRR and PYD domains-containing protein 1, N-terminus (NLRP1-NT)] |
Synonyms | NAC KIAA0926 CARD7 NALP1 DEFCAP |
Description | FUNCTION: Acts as the sensor component of the NLRP1 inflammasome, which mediates inflammasome activation in response to various pathogen-associated signals, leading to subsequent pyroptosis . Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation . Acts as a recognition receptor (PRR): recognizes specific pathogens and other damage-associated signals, such as cleavage by some human enteroviruses and rhinoviruses, double-stranded RNA, UV-B irradiation, or Val-boroPro inhibitor, and mediates the formation of the inflammasome polymeric complex composed of NLRP1, CASP1 and PYCARD/ASC . In response to pathogen-associated signals, the N-terminal part of NLRP1 is degraded by the proteasome, releasing the cleaved C-terminal part of the protein (NACHT, LRR and PYD domains-containing protein 1, C-terminus), which polymerizes and associates with PYCARD/ASC to initiate the formation of the inflammasome complex: the NLRP1 inflammasome recruits pro-caspase-1 (proCASP1) and promotes caspase-1 (CASP1) activation, which subsequently cleaves and activates inflammatory cytokines IL1B and IL18 and gasdermin-D (GSDMD), leading to pyroptosis . In the absence of GSDMD expression, the NLRP1 inflammasome is able to recruit and activate CASP8, leading to activation of gasdermin-E (GSDME) . Activation of NLRP1 inflammasome is also required for HMGB1 secretion; the active cytokines and HMGB1 stimulate inflammatory responses . Binds ATP and shows ATPase activity . Plays an important role in antiviral immunity and inflammation in the human airway epithelium . Specifically recognizes a number of pathogen-associated signals: upon infection by human rhinoviruses 14 and 16 (HRV-14 and HRV-16), NLRP1 is cleaved and activated which triggers NLRP1-dependent inflammasome activation and IL18 secretion . Positive-strand RNA viruses, such as Semliki forest virus and long dsRNA activate the NLRP1 inflammasome, triggering IL1B release in a NLRP1-dependent fashion . Acts as a direct sensor for long dsRNA and thus RNA virus infection . May also be activated by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, in a NOD2-dependent manner . The NLRP1 inflammasome is also activated in response to UV-B irradiation causing ribosome collisions: ribosome collisions cause phosphorylation and activation of NLRP1 in a MAP3K20-dependent manner, leading to pyroptosis . .; FUNCTION: [NACHT, LRR and PYD domains-containing protein 1]: Constitutes the precursor of the NLRP1 inflammasome, which mediates autoproteolytic processing within the FIIND domain to generate the N-terminal and C-terminal parts, which are associated non-covalently in absence of pathogens and other damage-associated signals. .; FUNCTION: [NACHT, LRR and PYD domains-containing protein 1, N-terminus]: Regulatory part that prevents formation of the NLRP1 inflammasome: in absence of pathogens and other damage-associated signals, interacts with the C-terminal part of NLRP1 (NACHT, LRR and PYD domains-containing protein 1, C-terminus), preventing activation of the NLRP1 inflammasome . In response to pathogen-associated signals, this part is ubiquitinated and degraded by the proteasome, releasing the cleaved C-terminal part of the protein, which polymerizes and forms the NLRP1 inflammasome . .; FUNCTION: [NACHT, LRR and PYD domains-containing protein 1, C-terminus]: Constitutes the active part of the NLRP1 inflammasome . In absence of pathogens and other damage-associated signals, interacts with the N-terminal part of NLRP1 (NACHT, LRR and PYD domains-containing protein 1, N-terminus), preventing activation of the NLRP1 inflammasome . In response to pathogen-associated signals, the N-terminal part of NLRP1 is degraded by the proteasome, releasing this form, which polymerizes and associates with PYCARD/ASC to form of the NLRP1 inflammasome complex: the NLRP1 inflammasome complex then directly recruits pro-caspase-1 (proCASP1) and promotes caspase-1 (CASP1) activation, leading to gasdermin-D (GSDMD) cleavage and subsequent pyroptosis . .; FUNCTION: [Isoform 2]: It is unclear whether is involved in inflammasome formation. It is not cleaved within the FIIND domain, does not assemble into specks, nor promote IL1B release . However, in an vitro cell-free system, it has been shown to be activated by MDP . . |
Accessions | ENST00000699713.1 A0A8V8TNJ2 A0A8V8TP02 A0A8V8TPC6 A0A8V8TP07 ENST00000572272.6 [Q9C000-1] ENST00000699613.1 ENST00000699801.1 ENST00000699644.1 ENST00000699707.1 A0A8V8TQB8 ENST00000699775.1 ENST00000699800.1 ENST00000699630.1 ENST00000699625.1 ENST00000699645.1 A0A8V8TQ83 ENST00000699615.1 Q9C000 A0A8V8TNG2 ENST00000699622.1 ENST00000699804.1 ENST00000699634.1 A0A8V8TNH7 A0A8V8TQ99 A0A8V8TP94 A0A8V8TQ85 ENST00000699771.1 ENST00000544378.7 [Q9C000-5] A0A8V8TNV8 ENST00000699776.1 ENST00000576905.5 A0A8V8TQI5 ENST00000699712.1 ENST00000699586.1 ENST00000699808.1 ENST00000354411.8 [Q9C000-4] ENST00000617618.5 [Q9C000-1] ENST00000699632.1 A0A8V8TP36 ENST00000699773.1 ENST00000699806.1 A0A8V8TP42 Q96AM0 A0A8V8TP48 ENST00000699777.1 A0A8V8TNN3 ENST00000699633.1 A0A8V8TQ79 ENST00000699809.1 ENST00000699612.1 A0A8V8TNK6 ENST00000699710.1 ENST00000699805.1 ENST00000699772.1 A0A8V8TNR1 A0A8V8TNV2 ENST00000699774.1 ENST00000699807.1 ENST00000699629.1 ENST00000571451.7 [Q9C000-2] A0A8V8TNS7 ENST00000699623.1 ENST00000572143.2 ENST00000571307.2 ENST00000699709.1 [Q9C000-1] A0A8V8TPW2 A0A8V8TNP3 ENST00000262467.11 [Q9C000-5] ENST00000699614.1 A0A8V8TQ17 A0A8V8TPB9 A0A8V8TQB3 ENST00000699643.1 A0A8V8TNS2 A0A8V8TP14 A0A8V8TQE6 A0A8V8TQ11 ENST00000699626.1 ENST00000699802.1 ENST00000269280.9 [Q9C000-2] A0A8V8TQK4 A0A8V8TPB4 A0A8V8TNP9 I3L0S2 A0A8V8TNR8 ENST00000699708.1 ENST00000577119.5 [Q9C000-3] ENST00000699665.1 ENST00000576905.6 [Q9C000-2] A0A8V8TNV1 A0A8V8TQL0 ENST00000699642.1 ENST00000699711.1 A0A8V8TP05 A0A8V8TQA8 A0A8V8TP12 ENST00000699705.1 A0A8V8TQ55 A0A8V8TNU7 ENST00000699803.1 ENST00000699810.1 ENST00000699706.1 |