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Nlrp1b NLR family, pyrin domain containing 1B [ Mus musculus (house mouse) ]

Gene ID: 637515, updated on 8-Feb-2024

Summary

Official Symbol
Nlrp1bprovided by MGI
Official Full Name
NLR family, pyrin domain containing 1Bprovided by MGI
Primary source
MGI:MGI:3582959
See related
Ensembl:ENSMUSG00000070390 AllianceGenome:MGI:3582959
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
Nalp1b
Summary
Predicted to enable several functions, including ATP binding activity; cysteine-type endopeptidase activator activity; and nucleic acid binding activity. Acts upstream of or within protein catabolic process and pyroptosis. 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
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Genomic context

See Nlrp1b in Genome Data Viewer
Location:
11 B4; 11 43.23 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (71043400..71133340, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (71152574..71242514, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_29884 Neighboring gene U6 snRNA-associated Sm-like protein LSm5 Neighboring gene NLR family, pyrin domain containing 1A Neighboring gene predicted gene, 23266 Neighboring gene NLR family, pyrin domain containing 1C, pseudogene Neighboring gene STARR-seq mESC enhancer starr_29885 Neighboring gene predicted gene, 23311 Neighboring gene calponin 2 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)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (1) 

General gene information

Markers

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 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
 
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
 
acts_upstream_of_or_within interleukin-1 alpha production IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within interleukin-1 beta production IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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 protein catabolic process IMP
Inferred from Mutant Phenotype
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
 
acts_upstream_of_or_within pyroptosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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 membrane IEA
Inferred from Electronic Annotation
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 1b allele 2
Names
NACHT, LRR and PYD domains-containing protein 1b
NACHT-, LRR-, and PYD-containing protein 1 paralog b

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_001040696.2NP_001035786.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform 1

    See identical proteins and their annotated locations for NP_001035786.1

    Status: VALIDATED

    Source sequence(s)
    AL662908, AL663042
    Consensus CDS
    CCDS36210.1
    UniProtKB/Swiss-Prot
    A1Z198
    Related
    ENSMUSP00000104156.3, ENSMUST00000108516.9
    Conserved Domains (8) summary
    cd08330
    Location:10841164
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00033
    Location:630658
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:573598
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:132297
    NACHT; NACHT domain
    pfam13553
    Location:8121064
    FIIND; Function to find
    pfam17776
    Location:426535
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:370424
    NOD2_WH; NOD2 winged helix domain
    cl39015
    Location:592721
    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. NM_001162414.2NP_001155886.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform 3

    See identical proteins and their annotated locations for NP_001155886.1

    Status: VALIDATED

    Source sequence(s)
    AL662908, AL663042
    Consensus CDS
    CCDS48839.1
    UniProtKB/Swiss-Prot
    A1Z198, F6R9S5, Q2LK61, Q2LKV8
    UniProtKB/TrEMBL
    A0A1G5SJ87
    Related
    ENSMUSP00000104155.3, ENSMUST00000108515.9
    Conserved Domains (7) summary
    cd08330
    Location:10871167
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00033
    Location:633661
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:132300
    NACHT; NACHT domain
    pfam13553
    Location:8151067
    FIIND; Function to find
    pfam17776
    Location:426538
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:370424
    NOD2_WH; NOD2 winged helix domain
    cl39015
    Location:627724
    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 ...

RNA

  1. NR_176629.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL662908, AL663042
    Related
    ENSMUST00000136493.8

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
    71043400..71133340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017314698.2XP_017170187.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform X1

    UniProtKB/Swiss-Prot
    A1Z198
    Conserved Domains (8) summary
    cd08330
    Location:10841164
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00033
    Location:630658
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:573598
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:132297
    NACHT; NACHT domain
    pfam13553
    Location:8121064
    FIIND; Function to find
    pfam17776
    Location:426535
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:370424
    NOD2_WH; NOD2 winged helix domain
    cl39015
    Location:592721
    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_006533907.3XP_006533970.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform X2

    See identical proteins and their annotated locations for XP_006533970.1

    UniProtKB/TrEMBL
    A0A1G5SJ87
    Conserved Domains (7) summary
    cd08330
    Location:10301110
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
    sd00033
    Location:576604
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:75243
    NACHT; NACHT domain
    pfam13553
    Location:7581010
    FIIND; Function to find
    pfam17776
    Location:369481
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:313367
    NOD2_WH; NOD2 winged helix domain
    cl39015
    Location:570667
    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_017314699.2XP_017170188.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform X3

    Conserved Domains (3) summary
    pfam05729
    Location:132297
    NACHT; NACHT domain
    pfam17776
    Location:426535
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:370424
    NOD2_WH; NOD2 winged helix domain
  4. XM_017314700.1XP_017170189.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform X4

    Conserved Domains (3) summary
    pfam05729
    Location:132297
    NACHT; NACHT domain
    pfam17776
    Location:426535
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:370424
    NOD2_WH; NOD2 winged helix domain
  5. XM_017314701.1XP_017170190.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform X5

    Conserved Domains (3) summary
    pfam05729
    Location:132297
    NACHT; NACHT domain
    pfam17776
    Location:426535
    NLRC4_HD2; NLRC4 helical domain HD2
    pfam17779
    Location:370424
    NOD2_WH; NOD2 winged helix domain

RNA

  1. XR_001780037.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001039680.1: Suppressed sequence

    Description
    NM_001039680.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.