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Nlrp1a NLR family, pyrin domain containing 1A [ Mus musculus (house mouse) ]

Gene ID: 195046, updated on 8-Feb-2024

Summary

Official Symbol
Nlrp1aprovided by MGI
Official Full Name
NLR family, pyrin domain containing 1Aprovided by MGI
Primary source
MGI:MGI:2684861
See related
Ensembl:ENSMUSG00000069830 AllianceGenome:MGI:2684861
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
NAC; Gm14; Gm15; CARD7; Nalp1; Nlrp1; DEFCAP; Nalp1a; PP1044
Summary
Predicted to enable several functions, including ATP binding activity; cysteine-type endopeptidase activator activity; and nucleic acid binding activity. Involved in positive regulation of interleukin-1 beta production and response to muramyl dipeptide. Acts upstream of or within defense response to bacterium and programmed necrotic cell death. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of NLRP1 inflammasome complex. Human ortholog(s) of this gene implicated in vitiligo. Orthologous to human NLRP1 (NLR family pyrin domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See Nlrp1a in Genome Data Viewer
Location:
11 B4; 11 43.21 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (70982023..71035780, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (71091197..71144969, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_29884 Neighboring gene RNA binding motif protein 7 pseudogene Neighboring gene U6 snRNA-associated Sm-like protein LSm5 Neighboring gene NLR family, pyrin domain containing 1B Neighboring gene predicted gene, 23266 Neighboring gene NLR family, pyrin domain containing 1C, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

General gene information

Markers

Clone Names

  • OTTMUSCASG00059399, OTTMUSPWKG00059389, OTTMUSWSBG00059289

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables ATP hydrolysis activity ISO
Inferred from Sequence Orthology
more info
 
enables cysteine-type endopeptidase activator activity ISO
Inferred from Sequence Orthology
more info
 
enables double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables double-stranded RNA binding ISO
Inferred from Sequence Orthology
more info
 
enables endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables molecular condensate scaffold activity ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables pattern recognition receptor activity ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
enables protein self-association ISO
Inferred from Sequence Orthology
more info
 
enables signaling adaptor activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in NLRP1 inflammasome complex assembly ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in antiviral innate immune response ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to UV-B ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within defense response to bacterium IDA
Inferred from Direct Assay
more info
PubMed 
involved_in defense response to virus ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within innate immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in pattern recognition receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of inflammatory response ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of inflammatory response NAS
Non-traceable Author Statement
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of interleukin-1 beta production NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within programmed cell death IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within programmed necrotic cell death IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein homooligomerization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in pyroptosis ISO
Inferred from Sequence Orthology
more info
 
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 response to muramyl dipeptide IDA
Inferred from Direct Assay
more info
PubMed 
involved_in self proteolysis ISO
Inferred from Sequence Orthology
more info
 
involved_in stress-activated protein kinase signaling cascade ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of NLRP1 inflammasome complex ISO
Inferred from Sequence Orthology
more info
 
part_of NLRP1 inflammasome complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of canonical inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of canonical inflammasome complex ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
NACHT, LRR and PYD domains-containing protein 1a
Names
NACHT, LRR and PYD containing protein 1
NACHT, leucine rich repeat and PYD containing 1
NACHT/LRR/pyrin domain-containing protein 1
NLR family, pyrin domain containing 1
NLR family, pyrin domain containing 1A, CAST/EiJ strain specific
NLR family, pyrin domain containing 1A, PWK/PhJ strain specific
NLR family, pyrin domain containing 1A, WSB/EiJ strain specific
caspase recruitment domain protein
caspase recruitment domain-containing protein 7
death effector filament-forming Ced-4-like apoptosis protein
nucleotide-binding domain and caspase recruitment domain

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001004142.2NP_001004142.2  NACHT, LRR and PYD domains-containing protein 1a

    See identical proteins and their annotated locations for NP_001004142.2

    Status: VALIDATED

    Source sequence(s)
    AL596136, AL662908, DQ117601
    Consensus CDS
    CCDS48838.1
    UniProtKB/Swiss-Prot
    M4T3K8, M4T4C8, M4T632, M4TJP5, Q2LKU9, Q3U0B5, Q67EY4
    UniProtKB/TrEMBL
    A0A1G5SJ32
    Related
    ENSMUSP00000104158.3, ENSMUST00000108518.3
    Conserved Domains (8) summary
    cd08330
    Location:10921172
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00031
    Location:635663
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:721742
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:134299
    NACHT; NACHT domain
    pfam13553
    Location:8201072
    FIIND; Function to find
    pfam17776
    Location:428540
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:372426
    NOD2_WH; NOD2 winged helix domain
    cl39015
    Location:617727
    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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    70982023..71035780 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036156459.1XP_036012352.1  NACHT, LRR and PYD domains-containing protein 1a isoform X1

    UniProtKB/Swiss-Prot
    M4T3K8, M4T4C8, M4T632, M4TJP5, Q2LKU9, Q3U0B5, Q67EY4
    UniProtKB/TrEMBL
    A0A1G5SJ32
    Conserved Domains (8) summary
    cd08330
    Location:10921172
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00031
    Location:635663
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:721742
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:134299
    NACHT; NACHT domain
    pfam13553
    Location:8201072
    FIIND; Function to find
    pfam17776
    Location:428540
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:372426
    NOD2_WH; NOD2 winged helix domain
    cl39015
    Location:617727
    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 ...
  2. XM_017314354.3XP_017169843.1  NACHT, LRR and PYD domains-containing protein 1a isoform X1

    UniProtKB/Swiss-Prot
    M4T3K8, M4T4C8, M4T632, M4TJP5, Q2LKU9, Q3U0B5, Q67EY4
    UniProtKB/TrEMBL
    A0A1G5SJ32
    Conserved Domains (8) summary
    cd08330
    Location:10921172
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00031
    Location:635663
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:721742
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:134299
    NACHT; NACHT domain
    pfam13553
    Location:8201072
    FIIND; Function to find
    pfam17776
    Location:428540
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:372426
    NOD2_WH; NOD2 winged helix domain
    cl39015
    Location:617727
    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. XM_036156458.1XP_036012351.1  NACHT, LRR and PYD domains-containing protein 1a isoform X1

    UniProtKB/Swiss-Prot
    M4T3K8, M4T4C8, M4T632, M4TJP5, Q2LKU9, Q3U0B5, Q67EY4
    UniProtKB/TrEMBL
    A0A1G5SJ32
    Conserved Domains (8) summary
    cd08330
    Location:10921172
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00031
    Location:635663
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:721742
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:134299
    NACHT; NACHT domain
    pfam13553
    Location:8201072
    FIIND; Function to find
    pfam17776
    Location:428540
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:372426
    NOD2_WH; NOD2 winged helix domain
    cl39015
    Location:617727
    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 ...