CIAS1
Encyclopedia
NACHT, LRR and PYD domains-containing protein 3 (NALP3) or cryopyrin is a protein
that in humans is encoded by the NLRP3 (NOD-like receptor family, pryin domain containing 3) gene
. The gene is also called cold induced autoinflammatory syndrome 1 (CIAS1) and is located on the long arm of chromosome 1. Another name for the protein is caterpiller-like receptor 1.1 (CLR1.1).
This gene encodes a pyrin-like protein which contains a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat
(LRR) motif. This protein interacts with apoptosis-associated speck-like protein containing a CARD (ASC). Proteins which contain the caspase recruitment domain, CARD, have been shown to be involved in inflammation and immune response. This protein may function as an activator of NF-κB signaling.
and apoptosis
. Mutations in this gene have been associated with a spectrum of dominantly inherited autoinflammatory diseases called cryopyrin-associated periodic syndrome
(CAPS). This includes 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 splice
d transcript variants encoding distinct isoforms have been identified for this gene.
Cryopyrin is contained in the intracellular inflammasome
. It has also been linked to the pathogenesis
of pseudogout, gout
, and familial Mediterranean fever
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the NLRP3 (NOD-like receptor family, pryin domain containing 3) gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. The gene is also called cold induced autoinflammatory syndrome 1 (CIAS1) and is located on the long arm of chromosome 1. Another name for the protein is caterpiller-like receptor 1.1 (CLR1.1).
This gene encodes a pyrin-like protein which contains a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat
Leucine-rich repeat
A leucine-rich repeat is a protein structural motif that forms an α/β horseshoe fold. It is composed of repeating 20–30 amino acid stretches that are unusually rich in the hydrophobic amino acid leucine...
(LRR) motif. This protein interacts with apoptosis-associated speck-like protein containing a CARD (ASC). Proteins which contain the caspase recruitment domain, CARD, have been shown to be involved in inflammation and immune response. This protein may function as an activator of NF-κB signaling.
Pathology
The encoded protein may play a role in the regulation of inflammationInflammation
Inflammation is part of the complex biological response of vascular tissues to harmful stimuli, such as pathogens, damaged cells, or irritants. Inflammation is a protective attempt by the organism to remove the injurious stimuli and to initiate the healing process...
and apoptosis
Apoptosis
Apoptosis is the process of programmed cell death that may occur in multicellular organisms. Biochemical events lead to characteristic cell changes and death. These changes include blebbing, cell shrinkage, nuclear fragmentation, chromatin condensation, and chromosomal DNA fragmentation...
. Mutations in this gene have been associated with a spectrum of dominantly inherited autoinflammatory diseases called cryopyrin-associated periodic syndrome
Cryopyrin-associated periodic syndrome
Cryopyrin-associated periodic syndrome is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome , the Muckle-Wells syndrome , and neonatal-onset multisystem inflammatory disease...
(CAPS). This includes familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome
Muckle-Wells syndrome
Muckle–Wells syndrome , also known as , is a rare autosomal dominant disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and painful joints. As a result, MWS is considered a type of periodic fever syndrome...
(MWS), chronic infantile neurological cutaneous and articular (CINCA
Cinca
Cinca can refer to:* Cinca , a river in Aragon, Spain* Cinca River...
) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively splice
Alternative splicing
Alternative splicing is a process by which the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA splicing...
d transcript variants encoding distinct isoforms have been identified for this gene.
Cryopyrin is contained in the intracellular inflammasome
Inflammasome
The inflammasome is a multiprotein oligomer consisting of caspase 1, PYCARD, NALP and sometimes caspase 5 . It is expressed in myeloid cells and is a component of the innate immune system. The exact composition of an inflammasome depends on the activator which initiates inflammasome assembly i.e...
. It has also been linked to the pathogenesis
Pathogenesis
The pathogenesis of a disease is the mechanism by which the disease is caused. The term can also be used to describe the origin and development of the disease and whether it is acute, chronic or recurrent...
of pseudogout, gout
Gout
Gout is a medical condition usually characterized by recurrent attacks of acute inflammatory arthritis—a red, tender, hot, swollen joint. The metatarsal-phalangeal joint at the base of the big toe is the most commonly affected . However, it may also present as tophi, kidney stones, or urate...
, and familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in MEFV, a gene which encodes a 781–amino acid protein denoted pyrin....
.