Aliases for NAIP Gene
External Ids for NAIP Gene
Previous HGNC Symbols for NAIP Gene
Previous GeneCards Identifiers for NAIP Gene
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]
GeneCards Summary for NAIP Gene
NAIP (NLR Family Apoptosis Inhibitory Protein) is a Protein Coding gene. Diseases associated with NAIP include Spinal Muscular Atrophy, Type I and Spinal Muscular Atrophy, Type Ii. Among its related pathways are Legionellosis and Toll-like Receptor Signaling Pathway. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and cysteine-type endopeptidase inhibitor activity involved in apoptotic process. An important paralog of this gene is NLRC4.
UniProtKB/Swiss-Prot for NAIP Gene
Anti-apoptotic protein which acts by inhibiting the activities of CASP3, CASP7 and CASP9. Can inhibit the autocleavage of pro-CASP9 and cleavage of pro-CASP3 by CASP9. Capable of inhibiting CASP9 autoproteolysis at Asp-315 and decreasing the rate of auto proteolysis at Asp-330. Acts as a mediator of neuronal survival in pathological conditions. Prevents motor-neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor-neuron apoptosis: mutated or deleted forms of NAIP have been found in individuals with severe spinal muscular atrophy.
Acts as a sensor component of the NLRC4 inflammasome that specifically recognizes and binds needle protein CprI from pathogenic bacteria C.violaceum. Association of pathogenic bacteria proteins drives in turn drive assembly and activation of the NLRC4 inflammasome, promoting caspase-1 activation, cytokine production and macrophage pyroptosis. The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria such as C.violaceum and L.pneumophila.