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FLASH GENE
Symbol NLRP1 contributors: mct/npt/pgu - updated : 07-10-2019
HGNC name NLR family, pyrin domain containing 1
HGNC id 14374
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   moderately
 thymus   moderately
Cardiovascularheart   moderately
Digestiveintestinelarge intestinecolon  
 intestinesmall intestine   
 liver   moderately
Nervousbrain   lowly
Reproductivefemale systemuterus   
 female systemovary  moderately
 female systemplacenta   
 male systemtestis  moderately
Respiratorylung   moderately
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticleukocyte
Blood/Hematopoieticmonocyte
Lymphoid/ImmuneT cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a PYD(PAAD/DAPIN/Pyrin) domain at the N terminus
  • a NACHT domain
  • seven leucine rich repeats (LRR), ribonuclease inhibitor type
  • a C-terminal caspase recruitment domain (CARD), with the latter being essential for its association with the downstream effector procaspase-1
  • HOMOLOGY
    intraspecies homolog to placental ribonuclease inhibitor
    Homologene
    FAMILY
  • CED4 family of apoptosis proteins
  • Nod-like receptors (NLRs) family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in the induction of apoptosis (by enhancing APAF1 and cytochrome c-dependent activation of caspase 9)
  • playing a central role in the activation of inflammatory caspases and processing of pro-IL1b (pro-interleukin-1b
  • may have functions in injured neurons
  • may be integral components that cause neuronal apoptosis following brain injury or diseases
  • implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cells response to microbial infection
  • intracellular receptors, such as NLRP1, NLRP3, NLRP6 and NLRC4, which mediate the assembly of inflammasome complexes leading to the activation of procaspase-1
  • is a regulator of innate immunity associated with vitiligo
  • cytoplasmic protein, involved in autoimmune diseases, mammalian reproduction, neuronal cell death, and stroke
  • plays a crucial role in the development of cardiac hypertrophy via positive regulation of the MAPK, NFKB1, and TGFB1/SMAD signaling pathways
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS immunity/defense , inflammation
    PATHWAY
    metabolism
    signaling signal transduction
    a component component of an inflammatory and apoptotic complex (inflammasome) composed of ASC, CASP1, CASP5 and NALP1
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
  • interacts strongly with caspase 5 and weakly with caspase 2 and 4
  • transcriptional target for cAMP-response-element-binding protein (CREBBP) in myeloid leukaemia cells
  • binds BCL2 and BCL2L1
  • IL17A promoted CASP5 function via facilitation of the NLRP1-inflammasome
  • NLRP1 promoted myofibroblast differentiation and excessive ECM production in TGFB1-induced neonatal cardiac fibroblasts through directly targeting TGFB1/SMAD signaling pathways
  • DPP9 binds directly to NLRP1 and CARD8, and this interaction may contribute to the inhibition of NLRP1
  • cell & other
    REGULATION
    Other regulated by interactions with antiapoptotic proteins BCL2 and BCL2L1, which suppress NLRP1-mediated activation of caspase-1 and reduce production of the caspase-1 substrate IL1B
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in the bone marrow blast of acute leukaemia
    tumoral germinal mutation     gain of function
    in siblings with a syndromic form of recurrent respiratory papillomatosis
    constitutional       gain of function
    of the NLRP1 and NLRP3 inflammasomes in Alzheimer disease
    Susceptibility to preeclampsia
    Variant & Polymorphism
  • variant rs12150220 (L155H) was associated with the development of preeclampsia 6)
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerative 
    molecular targets for therapeutic intervention in neurodegenerative disorders
    diabetetype 1 
    modulation of NLRP1 inflammasome might be a promising strategy for Diabetic retinopathy (DR) therapy
    ANIMAL & CELL MODELS