NLRP1
Sign in to saveAlso known as CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, NAC, NALP1, PP1044
NLRP1 encodes NACHT, LRR, FIIND, CARD domain and PYD domains-containing protein 1 in humans. NLRP1 was the first protein shown to form an inflammasome. NLRP1 is expressed by a variety of cell types, which are predominantly epithelial or hematopoietic. The expression is also seen within glandular epithelial structures including the lining of the small intestine, stomach, airway epithelia and in hairless or glabrous skin. NLRP1 polymorphisms are associated with skin extra-intestinal manifestations in CD. Its highest expression was detected in human skin, in psoriasis and in vitiligo. Polymorphis
Gene data
NLRP1- Name
- NLR family pyrin domain containing 1
- Type
- protein-coding
- Position
- 5,499,415–5,619,424 (−)
- Aliases
- AIADK, CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, JRRP, MSPC, NAC, NALP1
- Ensembl
- ENSG00000091592
- RefSeq RNA
- NM_001033053.3, NM_014922.5, NM_033004.4, NM_033006.4, NM_033007.4
- RefSeq protein
- NP_001028225.1, NP_055737.1, NP_127497.1, NP_127499.1, NP_127500.1
This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
NLR family pyrin domain containing 1
- Symbol
- NLRP1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:5,499,415-5,619,424
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~4 min read
Encyclopedic overview
8 sectionsContents
- Function
- Mechanism of activation
- Interactions
- Variants of NLRP1 in human
- Variants of NLRP1 in mice
- References
- Further reading
- External links
NLRP1 encodes NACHT, LRR, FIIND, CARD domain and PYD domains-containing protein 1 in humans. NLRP1 was the first protein shown to form an inflammasome. NLRP1 is expressed by a variety of cell types, which are predominantly epithelial or hematopoietic. The expression is also seen within glandular epithelial structures including the lining of the small intestine, stomach, airway epithelia and in hairless or glabrous skin. NLRP1 polymorphisms are associated with skin extra-intestinal manifestations in CD. Its highest expression was detected in human skin, in psoriasis and in vitiligo. Polymorphisms of NLRP1 were found in lupus erythematosus and diabetes type 1. Variants of mouse NLRP1 were found to be activated upon N-terminal cleavage by the protease in anthrax lethal factor.
== Function ==
Excerpted from Wikipedia’s “NLRP1” article, available under the CC BY-SA 4.0 licence.