NLRP3 Antibody – Goat Polyclonal

This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]

Function: May function as an inducer of apoptosis. Interacts selectively with ASC and this complex may function as an upstream activator of NF-kappa-B signaling. Inhibits TNF-alpha induced activation and nuclear translocation of RELA/NF-KB p65. Also inhibits transcriptional activity of RELA. Activates caspase-1 in response to a number of triggers including bacterial or viral infection which leads to processing and release of IL1B and IL18. Ref.3 Ref.4

Subunit structure: Interacts with PYCARD/ASC. Part of the NALP3 inflammasome complex which is involved in activation of caspase-1 and caspase-5, leading to processing of IL1B and IL18. Interacts with PML (isoform PML-1). Interacts with EIF2AK2/PKR. Ref.3 Ref.10 Ref.13 Ref.14

Subcellular location: Cytoplasm Ref.3 Ref.4 Ref.11.

Tissue specificity: Expressed in blood leukocytes. Strongly expressed in polymorphonuclear cells and osteoblasts. Undetectable or expressed at a lower magnitude in B- and T-lymphoblasts, respectively. High level of expression detected in chondrocytes. Detected in non-keratinizing epithelia of oropharynx, esophagus and ectocervix and in the urothelial layer of the bladder. Ref.3 Ref.11 Ref.12 Ref.16

Induction: By TNF. Ref.4

Involvement in disease: Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]: A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.15 Ref.18 Ref.20 Ref.23Muckle-Wells syndrome (MWS) [MIM:191900]: A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.15 Ref.20Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]: Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Ref.17 Ref.19 Ref.20 Ref.21 Ref.22

Sequence similarities: Belongs to the NLRP family.Contains 1 DAPIN domain.Contains 9 LRR (leucine-rich) repeats.Contains 1 NACHT domain.

Sequence caution: The sequence AAC39910.1 differs from that shown. Reason: Frameshift at positions 893, 918 and 926. The sequence AAL12497.1 differs from that shown. Reason: Erroneous initiation. The sequence AAL12498.1 differs from that shown. Reason: Erroneous initiation. The sequence AAL33908.1 differs from that shown. Reason: Erroneous initiation. The sequence AAL65136.1 differs from that shown. Reason: Erroneous initiation. The sequence AAQ98889.1 differs from that shown. Reason: Erroneous initiation. The sequence BAD92128.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI17155.1 differs from that shown. Reason: Erroneous initiation.