| Gene Symbol |
NLRP1
|
| Entrez Gene |
22861
|
| Alt Symbol |
CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, NAC, NALP1, PP1044, SLEV1, VAMAS1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
NLR family, pyrin domain containing 1
|
| Other Description |
NACHT, LRR and PYD containing protein 1|NACHT, LRR and PYD domains-containing protein 1|NACHT, leucine rich repeat and PYD (pyrin domain) containing 1|NACHT, leucine rich repeat and PYD containing 1|caspase recruitment domain protein 7|caspase recruitment domain-containing protein 7|death effector filament-forming Ced-4-like apoptosis protein|nucleotide-binding domain and caspase recruitment domain|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1
|
| Swissprots |
Q9BZZ9 Q9HAV8 Q9H5Z7 Q9UFT4 Q9Y2E0 E9PE50 Q9BZZ8 Q9C000 I6L9D9 Q9H5Z8
|
| Accessions |
CAC34899 CAI40574 CAS01786 EAW90321 EAW90322 EAW90323 EAW90324 EAW90325 EAW90326 EAW90327 Q9C000 AB023143 BAA76770 AF229059 AAK00748 AF229060 AAK00749 AF229061 AAK00750 AF229062 AAK00751 AF298548 AAG15254 AF310105 AAG30288 AI819334 AK026393 BAB15469 AK026398 BAB15470 AK310936 AL117470 CAB55945 AL832400 BP391071 NM_001033053 NP_001028225 NM_014922 NP_055737 NM_033004 NP_127497 NM_033006 NP_127499 NM_033007 NP_127500
|
| Function |
Able to form cytoplasmic structures termed death effector filaments. Enhances APAF1 and cytochrome c-dependent activation of pro-caspase-9 and consecutive apoptosis. Stimulates apoptosis through activation of caspase-3. Involved in activation of caspase-1 and caspase-5 as part of the NALP1 inflammasome complex which leads to processing and release of IL1B and IL18. Binds ATP. {ECO:0000269|PubMed:12191486, ECO:0000269|PubMed:15212762, ECO:0000269|PubMed:17349957}.
|
| Subcellular Location |
Cytoplasm {ECO:0000269|PubMed:17164409}. Nucleus {ECO:0000269|PubMed:17164409}.
|
| Tissue Specificity |
Widely expressed. Isoform 1 and isoform 2 are expressed in peripheral blood leukocytes and chronic myelogenous leukemia cell line K-562, followed by thymus, spleen and heart. Also detected in brain, lung, placenta, small intestine, colon, kidney, liver, muscle, testis and epithelial cells. Absent from hematopoietic progenitor cells but expressed upon differentiation of cells into granulocytes and, to a lesser extent, monocytes. In peripheral blood cells, highest levels are found in T-lymphocytes, granulocytes and monocytes. Expression is significantly increased in bone marrow blast cells of some acute leukemia patients but not in solid tumors. Expressed in adult cornea as well as adult and 24-week fetal tissues, including choroid, sclera, cornea, optic nerve, and adult retina and fetal retina/retinal pigment epithelium. In addition, expressed in corneal epithelia obtained during photorefractive keratectomy. {ECO:0000269|PubMed:15285719, ECO:0000269|PubMed:17164409, ECO:0000269|PubMed:2
|
| Top Pathways |
NOD-like receptor signaling pathway
|