Gene Information | |
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Gene Name | NAC |
Organism | Homo sapiens (Human) |
Gene Length | 1473 |
Protein Names | 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)] |
Target Name | NA |
Target Type | NA |
Gene Age | NA |
Evolutionary Stage | NA |
AlphaFoldDB | Q9C000 |
Gene Card | NLRP1 |
Uniprot ID | Q9C000 |
Pfam | PF00619; PF13553; PF13516; PF05729; PF17776; PF17779; PF02758 |
In ASD | no |
Allosteric Prediction | NA |
Ortholog in Animals | NA |
Ohnologs | NA |
Paralogs | NA |
Tissue | NA |
Tissue Specificity | Widely expressed (PubMed:11113115, PubMed:17164409). Abundantly expressed in primary immune cells (isoform 1 and isoform 2), including in neutrophils, monocytes/macrophages, dendritic cells (mostly Langerhans cells), and B- and T-lymphocytes (at protein level) (PubMed:15285719, PubMed:17164409). Strongly expressed in epithelial cells lining the glandular epithelium, such as that of the gastrointestinal tract (stomach, small intestine, colon), the respiratory tract (trachea and bronchi), and the endometrial and endocervical glands, gallbladder, prostate, and breast (at protein level). In testis, expressed in spermatogonia and primary spermatocytes, but not in Sertoli cells (at protein level). In the brain, expressed in neurons, in particular in pyramidal ones and in oligodendrocytes, but not detected in microglia (at protein level) (PubMed:17164409). Expressed in adult and fetal ocular tissues, including in adult and 24-week old fetal choroid, sclera, cornea, and optic nerve, as well as in adult retina and fetal retina/retinal pigment epithelium (PubMed:23349227). Highly expressed in the skin throughout the epidermis and in dermal fibroblasts, in both glabrous skin and plantar skin. It is detected in keratinocytes, but not in melanocytes. Expressed in epidermal appendages such as hair follicles (PubMed:27662089). {ECO:0000269|PubMed:11113115, ECO:0000269|PubMed:15285719, ECO:0000269|PubMed:17164409, ECO:0000269|PubMed:23349227, ECO:0000269|PubMed:27662089}. |
Pharmacological Animal Models | NA |
Gene Ontology (biological process) |
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Gene Ontology (cellular component) |
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Gene Ontology (molecular function) |
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PDB | 1PN5 (NMR - ) 3KAT (X-ray 3.10A ) 4IFP (X-ray 1.99A ) 4IM6 (X-ray 1.65A ) 5Y3S (X-ray 2.45A ) 6K7V (EM 3.70A ) 6X6C (EM 2.90A ) 6XKK (EM 3.60A ) |
DBSNP | rs1057519492 rs1057519493 rs397514692 rs12150220 rs11651595 rs3744718 rs776245016 rs11657747 rs2301582 rs9907167 rs35596958 rs11651270 rs1057524876 rs11653832 rs2137722 |
Subcellular location [CC] | Cytoplasm, cytosol {ECO:0000269|PubMed:17418785}. Cytoplasm {ECO:0000269|PubMed:17164409}. Nucleus {ECO:0000269|PubMed:17164409}. Note=Nucleocytoplasmic distribution in lymphoid organs (probably in T-cells) and in neurons. In epithelial cells, predominantly cytoplasmic. {ECO:0000269|PubMed:17164409}.; [NACHT, LRR and PYD domains-containing protein 1, C-terminus]: Inflammasome {ECO:0000269|PubMed:12191486, ECO:0000269|PubMed:22665479, ECO:0000269|PubMed:30291141, ECO:0000269|PubMed:33420028, ECO:0000269|PubMed:33420033}.; [NACHT, LRR and PYD domains-containing protein 1, N-terminus]: Nucleus {ECO:0000269|PubMed:35618833}. Note=(Microbial infection) Interaction with human herpes virus 8/HHV-8 proteins ORF45 promotes translocation of the N-terminal part of NLRP1 into the nucleus, relieving autoinhibition of the NLRP1 inflammasome and leading to its activation. {ECO:0000269|PubMed:35618833}. |
Mouse PG classification | NA |
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