Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | NLRP1 | contributors: mct/npt/pgu - updated : 07-10-2019 |
HGNC name | NLR family, pyrin domain containing 1 |
HGNC id | 14374 |
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Location | 17p13.2 Physical location : 5.404.718 - 5.487.832 |
Synonym name | |
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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 |
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EXPRESSION |
Type | widely |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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cells |
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cell lineage
cell lines
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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HOMOLOGY |
intraspecies | homolog to placental ribonuclease inhibitor |
Homologene |
FAMILY | |
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CATEGORY | regulatory |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,cytosolic | |
intracellular,nucleus,nucleoplasm |
basic FUNCTION | |
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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 | |
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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) |
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Susceptibility | to preeclampsia |
Variant & Polymorphism | |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |