NLRP1 (NLR family pyrin domain containing 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22861
Gene name Gene Name - the full gene name approved by the HGNC.
NLR family pyrin domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NLRP1
Synonyms (NCBI Gene) Gene synonyms aliases
AIADK, CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, JRRP, MSPC, NAC, NALP1, PP1044, SLEV1, VAMAS1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs12150220 A>T Risk-factor Coding sequence variant, missense variant
rs112191372 C>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs397514692 A>G Pathogenic Coding sequence variant, missense variant
rs1057519492 C>T Pathogenic Coding sequence variant, missense variant
rs1057519493 G>A Likely-pathogenic, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT017810 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(76)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002218 Process Activation of innate immune response IBA
GO:0002221 Process Pattern recognition receptor signaling pathway NAS 22258606
GO:0002376 Process Immune system process IEA
GO:0003690 Function Double-stranded DNA binding IDA 33243852
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606636 14374 ENSG00000091592
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9C000
Protein name NACHT, LRR and PYD domains-containing protein 1 (EC 3.4.-.-) (EC 3.6.4.-) (Caspase recruitment domain-containing protein 7) (Death effector filament-forming ced-4-like apoptosis protein) (Nucleotide-binding domain and caspase recruitment domain) [Cleaved
Protein function Acts as the sensor component of the NLRP1 inflammasome, which mediates inflammasome activation in response to various pathogen-associated signals, leading to subsequent pyroptosis (PubMed:12191486, PubMed:17349957, PubMed:22665479, PubMed:276620
PDB 1PN5 , 3KAT , 4IFP , 4IM6 , 5Y3S , 6K7V , 6X6C , 6XKK , 7WGE , 8ZGD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 8 → 84 PAAD/DAPIN/Pyrin domain Domain
PF05729 NACHT 328 → 497 NACHT domain Domain
PF17779 NOD2_WH 566 → 621 NOD2 winged helix domain Domain
PF17776 NLRC4_HD2 623 → 733 NLRC4 helical domain HD2 Domain
PF13516 LRR_6 863 → 886 Leucine Rich repeat Repeat
PF13516 LRR_6 920 → 943 Leucine Rich repeat Repeat
PF13553 FIIND 1100 → 1354 Function to find Family
PF00619 CARD 1379 → 1462 Caspase recruitment domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:11113115, PubMed:17164409). Abundantly expressed in primary immune cells (isoform 1 and isoform 2), including in neutrophils, monocytes/macrophages, dendritic cells (mostly Langerhans cells), and B- and T-lymph
Sequence 
MAGGAWGRLACYLEFLKKEELKEFQLLLANKAHSRSSSGETPAQPEKTSGMEVASYLVAQ
YGEQRAWDLALHTWEQMGLRSLCAQAQEGAGHSPSFPYSPSEPHLGSPSQPTSTAVLMPW
IHELPAGCTQGSERRVLRQLPDTSGRRWREISASLLYQALPSSPDHESPSQESPNAPTST
AVLGSWGSPPQPSLAPREQEAPGTQWPLDETSGIYYTEIREREREKSEKGRPPWAAVVGT
PPQAHTSLQPHHHPWEPSVRESLCSTWPWKNEDFNQKFTQLLLLQRPHPRSQDPLVKRSW
PDYVEENRGHLIEIRDLFGPGLDTQEPRIVILQGAAGIGKSTLARQVKEAWGRGQLYGDR
FQHVFYFSCRELAQSKVVSLAELIGKDGTATPAPIRQILSRPERLLFILDGVDEPGWVLQ
EPSSELCLHWSQPQPADALLGSLLGKTILPEASFLITARTTALQNLIPSLEQARWVEVLG
FSESSRKEYFYRYFTDERQAIRAFRLVKSNKELWALCLVPWVSWLACTCLMQQMKRKEKL
TLTSKTTTTLCLHYLAQALQAQPLGPQLRDLCSLAAEGIWQKKTLFSPDDLRKHGLDGAI
ISTFLKMGILQEHPIPLSYSFIHLCFQEFFAAMSYVLEDEKGRGKHSNCIIDLEKTLEAY
GIHGLFGASTTRFLLGLLSDEGEREMENIFHCRLSQGRNLMQWVPSLQLLLQPHSLESLH
CLYETRNKTFLTQVMAHFEEMGMCVETDMELLVCTFCIKFSRHVKKLQLIEGRQHRSTWS
PTMVVLFRWVPVTDAYWQILFSVLKVTRNLKELDLSGNSLSHSAVKSLCKTLRRPRCLLE
TLRLAGCGLTAEDCKDLAFGLRANQTLTELDLSFNVLTDAGAKHLCQRLRQPSCKLQRLQ
LVSCGLTSDCCQDLASVLSASPSLKELDLQQNNLDDVGVRLLCEGLRHPACKLIRLGLDQ
TTLSDEMRQELRALEQEKPQLLIFSRRKPSVMTPTEGLDTGEMSNSTSSLKRQRLGSERA
ASHVAQANLKLLDVSKIFPIAEIAEESSPEVVPVELLCVPSPASQGDLHTKPLGTDDDFW
GPTGPVATEVVDKEKNLYRVHFPVAGSYRWPNTGLCFVMREAVTVEIEFCVWDQFLGEIN
PQHSWMVAGPLLDIKAEPGAVEAVHLPHFVALQGGHVDTSLFQMAHFKEEGMLLEKPARV
ELHHIVLENPSFSPLGVLLKMIHNALRFIPVTSVVLLYHRVHPEEVTFHLYLIPSDCSIR
KAIDDLEMKFQFVRIHKPPPLTPLYMGCRYTVSGSGSGMLEILPKELELCYRSPGEDQLF
SEFYVGHLGSGIRLQVKDKKDETLVWEALVKPGDLMPATTLIPPARIAVPSPLDAPQLLH
FVDQYREQLIARVTSVEVVLDKLHGQVLSQEQYERVLAENTRPSQMRKLFSLSQSWDRKC
KDGLYQALKETHPHLIMELWEKGSKKGLLPLSS
Sequence length 1473
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  NOD-like receptor signaling pathway   The NLRP1 inflammasome
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Autoinflammation With Arthritis And Dyskeratosis autoinflammation with arthritis and dyskeratosis rs1057524876 N/A
Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome rs397514692, rs1057519492, rs1057519493 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease (time to first abdominal surgery) N/A N/A GWAS
Irritable Bowel Syndrome Irritable bowel syndrome N/A N/A GWAS
Tremor Essential tremor N/A N/A GWAS
Show/Hide Text Mining Associations (91)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 37723427
Activated PI3K delta Syndrome Associate 32555399
Acute Lung Injury Associate 31754335
Addison Disease Associate 23382179, 24614117
Adenocarcinoma of Lung Associate 33658393, 35866781, 39318060
Alzheimer Disease Associate 26939933
Anemia Sickle Cell Associate 34627079
Aortic Aneurysm Abdominal Associate 29528779
Appendicitis Associate 16794389
Arterial Occlusive Diseases Stimulate 29528779