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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
Location 17p13.2      Physical location : 5.404.718 - 5.487.832
Synonym name
  • caspase recruitment domain protein 7
  • death effector filament-forming Ced-4-like apoptosis protein
  • NAC-alpha/beta/gamma/delta
  • NACHT, leucine rich repeat and PYD containing 1
  • nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1
  • caterpiller ((CARD, Transcription Enhancer, R (purine)-binding, Pyrin, Lots of Leucine Repeats)17.1
  • NACHT, leucine rich repeat and PYD containing 1
  • Synonym symbol(s) DEFCAP, KIAA0926, CARD7, PP1044, DEFCAP-L/S, NAC, CLR17.1, NALP1, PP1044, DKFZp586O1822, VAMAS1, SLEV1, AIADK, CIDED, MSPC
    DNA
    TYPE functioning gene
    STRUCTURE 83.11 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 splicing 5610 165.8 1473 - 2001 11076957
    15 splicing 5478 157 1429 peripheral blood leukocytes, chronic myelogenous leukemia, thymus, spleen, heart 2001 11076957
    16 splicing 5520 159 1443 spinal cord, leukocytes 2001 11076957
    16 splicing 5388 154 1399 - 2001 11076957
    lacks two in-frame exons
    16 - 5098 - 1375 - 2001 11076957
    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