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

    Gene ID: 22861, updated on 26-Jul-2021

    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; 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
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    Genomic context

    See NLRP1 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (5501396..5584509, complement)
    105.20201022 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 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 Functions

    What'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 PubChem

    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
    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 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 protein self-association IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    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
    PubMed 
    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 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 inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process 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 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 
    Component Evidence Code Pubs
    part_of NLRP1 inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NLRP1 inflammasome complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    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

    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)

    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..88117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033053.3NP_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, ENST00000262467.10
      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_014922.5NP_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, ENST00000572272.6
      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: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_033006.4NP_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_033007.4NP_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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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