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

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; ATP hydrolysis 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 nucleoplasm. Predicted to be part of NLRP1 inflammasome complex and NLRP3 inflammasome complex. Predicted to be active in cytosol and nucleus. 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, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Thioredoxin-1 Protects Neurons Through Inhibiting NLRP1-Mediated Neuronal Pyroptosis in Models of Alzheimer's Disease.
Title: Thioredoxin-1 Protects Neurons Through Inhibiting NLRP1-Mediated Neuronal Pyroptosis in Models of Alzheimer's Disease.
Autophagy dysfunction contributes to NLRP1 inflammasome-linked depressive-like behaviors in mice.
Title: Autophagy dysfunction contributes to NLRP1 inflammasome-linked depressive-like behaviors in mice.
miR-122-3p Alleviates LPS-Induced Pyroptosis of Macrophages via Targeting NLRP1.
Title: miR-122-3p Alleviates LPS-Induced Pyroptosis of Macrophages via Targeting NLRP1.
Chronic hypoxia of endothelial cells boosts HIF-1alpha-NLRP1 circuit in Alzheimer's disease.
Title: Chronic hypoxia of endothelial cells boosts HIF-1α-NLRP1 circuit in Alzheimer's disease.
Stress level of glucocorticoid exacerbates neuronal damage and Abeta production through activating NLRP1 inflammasome in primary cultured hippocampal neurons of APP-PS1 mice.
Title: Stress level of glucocorticoid exacerbates neuronal damage and Aβ production through activating NLRP1 inflammasome in primary cultured hippocampal neurons of APP-PS1 mice.
Genetic variants in NLRP1 lead to autoimmune and autoinflammatory diseases in both humans and mice. [review]
Title: Mechanisms of NLRP1-Mediated Autoinflammatory Disease in Humans and Mice.
This study demonstrated that application of chemotherapeutic drug bortezomib upregulated NALP1 protein and mRNA expression in dorsal horn, and intrathecal injection of NALP1 siRNA attenuated the mechanical allodynia induced by bortezomib.
Title: Reduction of SIRT1 epigenetically upregulates NALP1 expression and contributes to neuropathic pain induced by chemotherapeutic drug bortezomib.
the NLRP1 inflammasome is a key negative regulator of protective, butyrate-producing commensals, which therefore promotes inflammatory bowel disease
Title: NLRP1 restricts butyrate producing commensals to exacerbate inflammatory bowel disease.
NLRP1 deficiency protects against cardiomyocyte hypertrophy induced by isoproterenol (PE); this protective activity was associated with the arrest of MAPK and NF-kappaB signaling.
Title: Nuclear Localization Leucine-Rich-Repeat Protein 1 Deficiency Protects Against Cardiac Hypertrophy by Pressure Overload.
Curcumin attenuated neuropathic pain and down-regulated the production of spinal mature IL-1beta by inhibiting the aggregation of NALP1 inflammasome and the activation of the JAK2-STAT3 cascade in astrocytes.
Title: Curcumin ameliorates neuropathic pain by down-regulating spinal IL-1β via suppressing astroglial NALP1 inflammasome and JAK2-STAT3 signalling.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Variation

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Alleles

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

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (4)
Targeted (1) 1 citation

General gene information

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Markers

D11Die19 (e-PCR), detects polymorphism
- UniSTS:226097

Rara (e-PCR), detects polymorphism
- UniSTS:144323

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 binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables cysteine-type endopeptidase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase activator activity	ISO Inferred from Sequence Orthology more info
enables cysteine-type endopeptidase activator activity	ISS Inferred from Sequence or Structural Similarity 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 enzyme binding	ISS Inferred from Sequence or Structural Similarity more info
enables molecular condensate scaffold activity	ISO Inferred from Sequence Orthology more info
enables pattern recognition receptor activity	IBA Inferred from Biological aspect of Ancestor 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 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 innate immune response	IBA Inferred from Biological aspect of Ancestor 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
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity 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 necrotic cell death	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in pyroptotic inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in pyroptotic inflammatory response	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	ISO Inferred from Sequence Orthology 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 signal transduction	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	ISS Inferred from Sequence or Structural Similarity more info
part_of NLRP1 inflammasome complex	NAS Non-traceable Author Statement more info	PubMed
part_of NLRP3 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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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)

NM_001004142.2 → NP_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:1092 → 1172

CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins

sd00031
Location:635 → 663

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:721 → 742

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:134 → 299

NACHT; NACHT domain

pfam13553
Location:820 → 1072

FIIND; Function to find

pfam17776
Location:428 → 540

NLRC4_HD2; NLRC4 helical domain HD2

pfam17779
Location:372 → 426

NOD2_WH; NOD2 winged helix domain

cl39015
Location:617 → 727

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

70982023..71035780 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156459.1 → XP_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:1092 → 1172

CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins

sd00031
Location:635 → 663

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:721 → 742

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:134 → 299

NACHT; NACHT domain

pfam13553
Location:820 → 1072

FIIND; Function to find

pfam17776
Location:428 → 540

NLRC4_HD2; NLRC4 helical domain HD2

pfam17779
Location:372 → 426

NOD2_WH; NOD2 winged helix domain

cl39015
Location:617 → 727

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 ...
XM_017314354.3 → XP_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:1092 → 1172

CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins

sd00031
Location:635 → 663

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:721 → 742

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:134 → 299

NACHT; NACHT domain

pfam13553
Location:820 → 1072

FIIND; Function to find

pfam17776
Location:428 → 540

NLRC4_HD2; NLRC4 helical domain HD2

pfam17779
Location:372 → 426

NOD2_WH; NOD2 winged helix domain

cl39015
Location:617 → 727

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 ...
XM_036156458.1 → XP_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:1092 → 1172

CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins

sd00031
Location:635 → 663

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:721 → 742

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:134 → 299

NACHT; NACHT domain

pfam13553
Location:820 → 1072

FIIND; Function to find

pfam17776
Location:428 → 540

NLRC4_HD2; NLRC4 helical domain HD2

pfam17779
Location:372 → 426

NOD2_WH; NOD2 winged helix domain

cl39015
Location:617 → 727

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 ...