Homo sapiens Protein: NLRP1 | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-762351.3 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | NLRP1 | ||||||||||||||||||||||
Protein Name | |||||||||||||||||||||||
Synonyms | CARD7; CIDED; CLR17.1; DEFCAP; DEFCAP-L/S; NAC; NALP1; PP1044; SLEV1; VAMAS1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000460475 | ||||||||||||||||||||||
InnateDB Gene | IDBG-21836 (NLRP1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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:0000269PubMed:12191486, ECO:0000269PubMed:15212762, ECO:0000269PubMed:17349957}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000269PubMed:17164409}. Nucleus {ECO:0000269PubMed:17164409}. | ||||||||||||||||||||||
Disease Associations | Vitiligo (VTLG) [MIM:193200]: A pigmentary disorder of the skin and mucous membranes. It is characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. Vitiligo is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases. {ECO:0000269PubMed:17377159}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Vitiligo-associated multiple autoimmune disease 1 (VAMAS1) [MIM:606579]: A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED) [MIM:615225]: A disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, and dystrophic nails. {ECO:0000269PubMed:23349227}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
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:0000269PubMed:15285719, ECO:0000269PubMed:17164409, ECO:0000269PubMed:23349227}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001315
CARD domain IPR001611 Leucine-rich repeat IPR003590 Leucine-rich repeat, ribonuclease inhibitor subtype IPR004020 DAPIN domain IPR007111 NACHT nucleoside triphosphatase IPR011029 Death-like domain IPR027417 P-loop containing nucleoside triphosphate hydrolase |
||||||||||||||||||||||
PFAM |
PF00619
PF00560 PF13504 PF13855 PF02758 |
||||||||||||||||||||||
PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00114
SM00368 |
||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9C000 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9C000 | ||||||||||||||||||||||
TrEMBL | I3L2G5 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 22861 | ||||||||||||||||||||||
UniGene | Hs.736158 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:14374 | ||||||||||||||||||||||
OMIM | 606636 | ||||||||||||||||||||||
CCDS | CCDS42246 | ||||||||||||||||||||||
HPRD | 07364 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB023143 AC055839 AF229059 AF229060 AF229061 AF229062 AF298548 AF310105 AK026393 AK026398 AL117470 BC051787 | ||||||||||||||||||||||
GenPept | AAG15254 AAG30288 AAH51787 AAK00748 AAK00749 AAK00750 AAK00751 BAA76770 BAB15469 BAB15470 CAB55945 | ||||||||||||||||||||||