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NLRP1 NLR family pyrin domain containing 1 [ Homo sapiens (human) ]

Gene ID: 22861, updated on 11-Apr-2024

Summary

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Official Symbol
NLRP1provided by HGNC
Official Full Name
NLR family pyrin domain containing 1provided by HGNC
Primary source
HGNC:HGNC:14374
See related
Ensembl:ENSG00000091592 MIM:606636; AllianceGenome:HGNC:14374
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAC; JRRP; MSPC; AIADK; CARD7; CIDED; NALP1; SLEV1; DEFCAP; PP1044; VAMAS1; CLR17.1; DEFCAP-L/S
Summary
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 motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in skin (RPKM 23.7), spleen (RPKM 21.9) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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See NLRP1 in Genome Data Viewer
Location:
17p13.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (5501396..5584509, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (5395133..5478273, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (5404716..5487829, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:5389715-5389882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11579 Neighboring gene derlin 2 Neighboring gene uncharacterized LOC124900388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5403324-5403890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8072 Neighboring gene uncharacterized LOC728392 Neighboring gene zinc finger CCHC domain-containing protein 9-like Neighboring gene MIS12 kinetochore complex component Neighboring gene ReSE screen-validated silencer GRCh37_chr17:5419498-5419686 Neighboring gene uncharacterized LOC124903902 Neighboring gene RNA, U7 small nuclear 31 pseudogene Neighboring gene uncharacterized LOC105371507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5464919-5465420 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:5487167-5488366 Neighboring gene uncharacterized LOC124903903 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:5623530-5624450 Neighboring gene nipsnap homolog 1 (C. elegans) pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The Relationship between the Serum NLRP1 Level and Coronary Lesions in Patients with Coronary Artery Disease. Zong J, et al. Int J Clin Pract, 2023. PMID 37214347, Free PMC Article
  2. The NLRP1 inflammasome in skin diseases. Burian M, et al. Front Immunol, 2023. PMID 36911693, Free PMC Article
  3. Current understanding of the phenotypic spectrum of patients with NLRP1 variants. Takeichi T, et al. Br J Dermatol, 2023 Feb 10. PMID 36763875
  4. Skin Colonization with S. aureus Can Lead to Increased NLRP1 Inflammasome Activation in Patients with Atopic Dermatitis. Vaher H, et al. J Invest Dermatol, 2023 Jul. PMID 36736455
  5. High p62 expression suppresses the NLRP1 inflammasome and increases stress resistance in cutaneous SCC cells. Hennig P, et al. Cell Death Dis, 2022 Dec 29. PMID 36581625, Free PMC Article

See all (184) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia.
    Title: Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia.
  2. NLRP1 restricts porcine deltacoronavirus infection via IL-11 inhibiting the phosphorylation of the ERK signaling pathway.
    Title: NLRP1 restricts porcine deltacoronavirus infection via IL-11 inhibiting the phosphorylation of the ERK signaling pathway.
  3. Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.
    Title: Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.
  4. Low-level NLRP1 is associated with increased metastasis and risk of recurrence of non-melanoma skin cancer.
    Title: Low-level NLRP1 is associated with increased metastasis and risk of recurrence of non-melanoma skin cancer.
  5. NLRP1- A CINDERELLA STORY: a perspective of recent advances in NLRP1 and the questions they raise.
    Title: NLRP1- A CINDERELLA STORY: a perspective of recent advances in NLRP1 and the questions they raise.
  6. Purinergic neurotransmission receptor P2X4 silencing alleviates intracerebral hemorrhage-induced neuroinflammation by blocking the NLRP1/Caspase-1 pathway.
    Title: Purinergic neurotransmission receptor P2X4 silencing alleviates intracerebral hemorrhage-induced neuroinflammation by blocking the NLRP1/Caspase-1 pathway.
  7. A common variant close to the "tripwire" linker region of NLRP1 contributes to severe COVID-19.
    Title: A common variant close to the "tripwire" linker region of NLRP1 contributes to severe COVID-19.
  8. [Expressions of NLRP1 and NLRC4 inflammasomes in prostate cancer and their clinical value].
    Title: [Expressions of NLRP1 and NLRC4 inflammasomes in prostate cancer and their clinical value].
  9. Structural basis for thioredoxin-mediated suppression of NLRP1 inflammasome.
    Title: Structural basis for thioredoxin-mediated suppression of NLRP1 inflammasome.
  10. Tripping the wire: sensing of viral protease activity by CARD8 and NLRP1 inflammasomes.
    Title: Tripping the wire: sensing of viral protease activity by CARD8 and NLRP1 inflammasomes.
Submit: New GeneRIF Correction See all GeneRIFs (143)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of NLR family, pyrin domain containing 1 (NLRP1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Upregulation of apoptosis genes such as caspase 1, NALP1, and TNF receptor-associated factor 5 are induced by HIV-gp120/ethanol in human neurons PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0926, DKFZp586O1822

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cysteine-type endopeptidase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cysteine-type endopeptidase activator activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
enables double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables double-stranded RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables molecular condensate scaffold activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables pattern recognition receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in NLRP1 inflammasome complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in NLRP1 inflammasome complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in antiviral innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cellular response to UV-B IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in defense response to bacterium ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in defense response to virus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neuron apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pattern recognition receptor signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of inflammatory response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of interleukin-1 beta production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of interleukin-1 beta production ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein homooligomerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pyroptosis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pyroptosis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of inflammatory response IC
Inferred by Curator
more info
 PubMed 
involved_in response to muramyl dipeptide ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in self proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of NLRP1 inflammasome complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of NLRP1 inflammasome complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of NLRP1 inflammasome complex TAS
Traceable Author Statement
more info
 PubMed 
part_of canonical inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleolus NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
NACHT, LRR and PYD domains-containing protein 1
Names
NACHT, LRR and PYD containing protein 1
NACHT, leucine rich repeat and PYD (pyrin domain) containing 1
NACHT, leucine rich repeat and PYD containing 1
caspase recruitment domain protein 7
caspase recruitment domain-containing protein 7
death effector filament-forming Ced-4-like apoptosis protein
nucleotide-binding domain and caspase recruitment domain
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011651.1 RefSeqGene

    Range
    5004..75395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033053.3 → NP_001028225.1  NACHT, LRR and PYD domains-containing protein 1 isoform 5

    See identical proteins and their annotated locations for NP_001028225.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate 3' sequence, as compared to variant 1. The resulting isoform (5) has a distinct and shorter C-terminus, as compared to isoform 1.
    Source sequence(s)
    AB023143, AC055839, AK026398, BP391071
    Consensus CDS
    CCDS32537.1
    UniProtKB/TrEMBL
    A0A8V8TNN3
    Related
    ENSP00000262467.5, ENST00000262467.11
    Conserved Domains (6) summary
    smart00382
    Location:327 → 416
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:810 → 988
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:9 → 88
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00034
    Location:810 → 838
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:328 → 497
    NACHT; NACHT domain
    pfam13553
    Location:1104 → 1357
    FIIND; Function to find

  2. NM_014922.5 → NP_055737.1  NACHT, LRR and PYD domains-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_055737.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, as compared to variant 1. The encoded isoform 2 is missing an internal segment, as compared to isoform 1.
    Source sequence(s)
    AB023143, AC055839, AI819334
    Consensus CDS
    CCDS42245.1
    UniProtKB/TrEMBL
    A0A8V8TNJ2
    Related
    ENSP00000459661.3, ENST00000571451.7
    Conserved Domains (8) summary
    cd08320
    Location:9 → 88
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    cd08330
    Location:1336 → 1416
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00034
    Location:810 → 838
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:328 → 497
    NACHT; NACHT domain
    pfam13553
    Location:1100 → 1310
    FIIND; Function to find
    pfam17776
    Location:623 → 733
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:567 → 621
    NOD2_WH; NOD2 winged helix domain
    cl39015
    Location:810 → 988
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

  3. NM_033004.4 → NP_127497.1  NACHT, LRR and PYD domains-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_127497.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB023143, AC055839, AF229060, AI819334
    Consensus CDS
    CCDS42246.1
    UniProtKB/Swiss-Prot
    E9PE50, I6L9D9, Q9BZZ8, Q9BZZ9, Q9C000, Q9H5Z7, Q9H5Z8, Q9HAV8, Q9UFT4, Q9Y2E0
    UniProtKB/TrEMBL
    A0A8V8TNJ2
    Related
    ENSP00000460475.1, ENST00000572272.6
    Conserved Domains (8) summary
    cd08320
    Location:9 → 88
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    cd08330
    Location:1380 → 1460
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00034
    Location:810 → 838
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:328 → 497
    NACHT; NACHT domain
    pfam13553
    Location:1100 → 1354
    FIIND; Function to find
    pfam17776
    Location:623 → 733
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:567 → 621
    NOD2_WH; NOD2 winged helix domain
    cl39015
    Location:810 → 988
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

  4. NM_033006.4 → NP_127499.1  NACHT, LRR and PYD domains-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_127499.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the middle coding region, as compared to variant 1. The encoded isoform 3 is missing an internal segment, as compared to isoform 1.
    Source sequence(s)
    AB023143, AC055839, AF229062, AI819334
    Consensus CDS
    CCDS42244.1
    UniProtKB/TrEMBL
    A0A8V8TNJ2
    Related
    ENSP00000346390.3, ENST00000354411.8
    Conserved Domains (7) summary
    smart00382
    Location:327 → 416
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:800 → 960
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:9 → 88
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    cd08330
    Location:1350 → 1430
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00034
    Location:810 → 838
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:328 → 497
    NACHT; NACHT domain
    pfam13553
    Location:1070 → 1324
    FIIND; Function to find

  5. NM_033007.4 → NP_127500.1  NACHT, LRR and PYD domains-containing protein 1 isoform 4

    See identical proteins and their annotated locations for NP_127500.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two in-frame exons in the coding region, as compared to variant 1. The encoded isoform 4 is missing two internal segments, as compared to isoform 1.
    Source sequence(s)
    AB023143, AC055839, AF229061, AI819334
    Consensus CDS
    CCDS58508.1
    UniProtKB/TrEMBL
    A0A8V8TNJ2
    Related
    ENSP00000460216.1, ENST00000577119.5
    Conserved Domains (7) summary
    smart00382
    Location:327 → 416
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:800 → 960
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:9 → 88
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    cd08330
    Location:1306 → 1386
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00034
    Location:810 → 838
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:328 → 497
    NACHT; NACHT domain
    pfam13553
    Location:1070 → 1280
    FIIND; Function to find

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    5501396..5584509 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    5395133..5478273 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C000.1 GenPept UniProtKB/Swiss-Prot:Q9C000

Gene LinkOut

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