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

Gene ID: 22861, updated on 6-Jan-2019

Summary

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
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; 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

Genomic context

See NLRP1 in Genome Data Viewer
Location:
17p13.2
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (5501399..5584512, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (5404719..5487832, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene zinc finger CCHC domain-containing protein 9 pseudogene Neighboring gene uncharacterized LOC728392 Neighboring gene MIS12, kinetochore complex component Neighboring gene RNA, U7 small nuclear 31 pseudogene Neighboring gene uncharacterized LOC105371507 Neighboring gene nipsnap homolog 1 (C. elegans) pseudogene Neighboring gene uncharacterized LOC339166

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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 BioSystems

  • Cellular roles of Anthrax toxin, organism-specific biosystem (from Pathway Interaction Database)
    Cellular roles of Anthrax toxin, organism-specific biosystem
    Cellular roles of Anthrax toxin
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Inflammasomes, organism-specific biosystem (from REACTOME)
    Inflammasomes, organism-specific biosystemIn contrast to NOD1/2 some NLRPs function as large macromolecular complexes called 'Inflammasomes'. These multiprotein platforms control activation of the cysteinyl aspartate protease caspase-1 and t...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystem (from WikiPathways)
    Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...
  • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
  • The NLRP1 inflammasome, organism-specific biosystem (from REACTOME)
    The NLRP1 inflammasome, organism-specific biosystemNLRP1 is activated by MDP (Faustin et al. 2007). The NLRP1 inflammasome was the first to be characterized. It was described as a complex containing NALP1, ASC, caspase-1 and caspase-5 (Martinon et al...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0926, DKFZp586O1822

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type endopeptidase activator activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NLRP1 inflammasome complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
defense response to bacterium ISS
Inferred from Sequence or Structural Similarity
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of interleukin-1 beta secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of interleukin-1 beta secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of inflammatory response IC
Inferred by Curator
more info
PubMed 
response to muramyl dipeptide ISS
Inferred from Sequence or Structural Similarity
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
NLRP1 inflammasome complex IDA
Inferred from Direct Assay
more info
PubMed 
NLRP1 inflammasome complex TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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
    5001..88114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033053.2NP_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/Swiss-Prot
    Q9C000
    Related
    ENSP00000262467.5, ENST00000262467.9
    Conserved Domains (6) summary
    smart00382
    Location:327416
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:810988
    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:988
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00034
    Location:810838
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:328497
    NACHT; NACHT domain
    pfam13553
    Location:11041357
    FIIND; Function to find
  2. NM_014922.4NP_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/Swiss-Prot
    Q9C000
    UniProtKB/TrEMBL
    I3L2G5
    Related
    ENSP00000459661.3, ENST00000571451.6
    Conserved Domains (7) summary
    smart00382
    Location:327416
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:810988
    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:988
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    cd08330
    Location:13361416
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00034
    Location:810838
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:328497
    NACHT; NACHT domain
    pfam13553
    Location:11001310
    FIIND; Function to find
  3. NM_033004.4NP_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
    Q9C000
    Related
    ENSP00000460475.1, ENST00000572272.5
    Conserved Domains (7) summary
    smart00382
    Location:327416
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:810988
    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:988
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    cd08330
    Location:13801460
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00034
    Location:810838
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:328497
    NACHT; NACHT domain
    pfam13553
    Location:11001354
    FIIND; Function to find
  4. NM_033006.3NP_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/Swiss-Prot
    Q9C000
    Related
    ENSP00000346390.3, ENST00000354411.7
    Conserved Domains (7) summary
    smart00382
    Location:327416
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:800960
    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:988
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    cd08330
    Location:13501430
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00034
    Location:810838
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:328497
    NACHT; NACHT domain
    pfam13553
    Location:10701324
    FIIND; Function to find
  5. NM_033007.3NP_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/Swiss-Prot
    Q9C000
    Related
    ENSP00000460216.1, ENST00000577119.5
    Conserved Domains (7) summary
    smart00382
    Location:327416
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:800960
    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:988
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    cd08330
    Location:13061386
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00034
    Location:810838
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:328497
    NACHT; NACHT domain
    pfam13553
    Location:10701280
    FIIND; Function to find

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    5501399..5584512 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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