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Details on Person UniProt:Q9NPP4 NLRC4

Class:IdReferenceGeneProduct:51396
_chainChangeLogchain:1-1024 added on Sat February 7 2015
_displayNameUniProt:Q9NPP4 NLRC4
_timestamp2024-11-03 19:52:51
chainchain:1-1024
checksum49378DBB54938E0F
commentFUNCTION Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis (PubMed:15107016). The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria (By similarity).SUBUNIT Homooligomer; homooligomerizes to induce formation of the NLRC4 inflammasome (PubMed:25385754, PubMed:33420028). Homooligomerizes following activation by pathogenic proteins (By similarity). Component of the NLRC4 inflammasome, at least composed of NLRC4 and caspase-1 (CASP1) (By similarity). Some NLRC4 inflammasomes contain PYCARD/ASC, while some others directly contact and activate CASP1 (PubMed:25217959). Interacts (via CARD domain) with PYCARD/ASC, pro-caspase-1 (CASP1), NOD2, BCL10 and NALP1 (NAC) by CARD-CARD interaction (PubMed:15107016). Interacts with EIF2AK2/PKR (PubMed:22801494).INTERACTION Isoform 2 is expressed ubiquitously, although highly expressed in lung and spleen. Isoform 1 is highly expressed in lung, followed by leukocytes especially monocytes, lymph node, colon, brain, prostate, placenta, spleen, bone marrow and fetal liver. Isoform 4 is only detected in brain.DOMAIN In an autoinhibited form the C-terminal leucine-rich repeat (LRR) domain is positioned to sterically occlude one side of the NBD domain and consequently sequester NLRC4 in a monomeric state. An ADP-mediated interaction between the NBD and the WHD also contributes to the autoinhibition.PTM Phosphorylated at Ser-533 following infection of macrophages with S.typhimurium (Salmonella). Phosphorylation is essential for NLRC4 inflammasome function to promote caspase-1 activation and pyroptosis. PRKCD phosphorylates Ser-533 in vitro.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.
descriptionrecommendedName: NLR family CARD domain-containing protein 4 alternativeName: CARD, LRR, and NACHT-containing protein shortName evidence="14"CED-4-like protein Clan alternativeName: fullName evidence="12"Caspase recruitment domain-containing protein 12 alternativeName: fullName evidence="13"Ice protease-activating factor shortName evidence="13"Ipaf
geneNameNLRC4
CARD12
CLAN
CLAN1
IPAF
UNQ6189/PRO20215
identifierQ9NPP4
isSequenceChangedFALSE
keyword3D-structure
Alternative splicing
Apoptosis
ATP-binding
Cytoplasm
Disease variant
Immunity
Inflammasome
Inflammatory response
Innate immunity
Leucine-rich repeat
Nucleotide-binding
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameNLRC4
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:6801362] ENSEMBL:ENSG00000091106 NLRC4 [Homo sapiens]
secondaryIdentifierNLRC4_HUMAN
A8K9F8
B2RBQ3
B3KTF0
D6W580
Q96J81
Q96J82
Q96J83
sequenceLength1024
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:144972] UniProt:Q9NPP4-2 NLRC4 [Homo sapiens]
[ReferenceIsoform:144973] UniProt:Q9NPP4-3 NLRC4 [Homo sapiens]
[ReferenceIsoform:144974] UniProt:Q9NPP4-4 NLRC4 [Homo sapiens]
[ReferenceIsoform:414662] UniProt:Q9NPP4-1 NLRC4 [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:561198] NLRC4 [cytosol] [Homo sapiens]
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