Nlrp12 NLR family, pyrin domain containing 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nlrp12provided by MGI
Official Full Name: NLR family, pyrin domain containing 12provided by MGI
Primary source: MGI:MGI:2676630
See related: Ensembl:ENSMUSG00000078817 AllianceGenome:MGI:2676630
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: Nalp12; PYPAF7; monarch-1
Summary: Enables protein-macromolecule adaptor activity. Involved in negative regulation of inflammatory response and negative regulation of non-canonical NF-kappaB signal transduction. Acts upstream of or within cellular response to cytokine stimulus; dendritic cell migration; and negative regulation of ERK1 and ERK2 cascade. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in familial cold autoinflammatory syndrome 2. Orthologous to human NLRP12 (NLR family pyrin domain containing 12). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver E18 (RPKM 1.8), liver adult (RPKM 0.8) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A1; 7 1.88 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (3267317..3298400, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (3218643..3249771, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of NLRP12 enhances macrophage immune response and alleviates herpes simplex keratitis.
Title: Overexpression of NLRP12 enhances macrophage immune response and alleviates herpes simplex keratitis.
Overexpression of NLRP12 enhances antiviral immunity and alleviates herpes simplex keratitis via pyroptosis/IL-18/IFN-gamma signaling.
Title: Overexpression of NLRP12 enhances antiviral immunity and alleviates herpes simplex keratitis via pyroptosis/IL-18/IFN-γ signaling.
NLRP12 Senses the SARS-CoV-2 Membrane Protein and Promotes an Inflammatory Response.
Title: NLRP12 Senses the SARS-CoV-2 Membrane Protein and Promotes an Inflammatory Response.
Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis).
Title: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis).
NLRP12 downregulates the Wnt/beta-catenin pathway via interaction with STK38 to suppress colorectal cancer.
Title: NLRP12 downregulates the Wnt/β-catenin pathway via interaction with STK38 to suppress colorectal cancer.
Nlrp12 deficiency alters gut microbiota and ameliorates Fas[lpr] -mediated systemic autoimmunity in male mice.
Title: Nlrp12 deficiency alters gut microbiota and ameliorates Fas(lpr) -mediated systemic autoimmunity in male mice.
NLRP12 is an innate immune checkpoint for repressing IFN signatures and attenuating lupus nephritis progression.
Title: NLRP12 is an innate immune checkpoint for repressing IFN signatures and attenuating lupus nephritis progression.
The innate immune receptor Nlrp12 suppresses autoimmunity to the retina.
Title: The innate immune receptor Nlrp12 suppresses autoimmunity to the retina.
NLRP12 negatively regulates EtOH-induced liver macrophage activation via NF-kappaB pathway and mediates hepatocyte apoptosis in alcoholic liver injury.
Title: NLRP12 negatively regulates EtOH-induced liver macrophage activation via NF-κB pathway and mediates hepatocyte apoptosis in alcoholic liver injury.
Persistent DNA damage-induced NLRP12 improves hematopoietic stem cell function.
Title: Persistent DNA damage-induced NLRP12 improves hematopoietic stem cell function.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Variation

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Alleles

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

Endonuclease-mediated (6) 1 citation
Spontaneous (2) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to cytokine stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dendritic cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Toll signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Toll signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cytokine production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of interleukin-1 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-1 production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-6 production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of non-canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of non-canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of non-canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein autophosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of MHC class I biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of MHC class I biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
NOT located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NACHT, LRR and PYD domains-containing protein 12

Names: PYRIN-containing APAF1-like protein 7

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_001033431.1 → NP_001028603.1 NACHT, LRR and PYD domains-containing protein 12

See identical proteins and their annotated locations for NP_001028603.1

Status: VALIDATED

Source sequence(s)

AC245272

Consensus CDS

CCDS51963.1

UniProtKB/Swiss-Prot

E9Q5R7, Q3UEM3

Related

ENSMUSP00000104293.3, ENSMUST00000108653.4

Conserved Domains (7) summary

cd00116
Location:737 → 1028

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 ...

sd00033
Location:708 → 736

LRR_RI; leucine-rich repeat [structural motif]

pfam02758
Location:12 → 87

PYRIN; PAAD/DAPIN/Pyrin domain

pfam05729
Location:211 → 380

NACHT; NACHT domain

pfam14484
Location:129 → 200

FISNA; Fish-specific NACHT associated domain

pfam17776
Location:514 → 621

NLRC4_HD2; NLRC4 helical domain HD2

pfam17779
Location:459 → 512

NOD2_WH; NOD2 winged helix domain

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_000073.7 Reference GRCm39 C57BL/6J

Range

3267317..3298400 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540131.5 → XP_006540194.1 NACHT, LRR and PYD domains-containing protein 12 isoform X1

See identical proteins and their annotated locations for XP_006540194.1

Conserved Domains (7) summary

cd00116
Location:710 → 1001

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 ...

sd00033
Location:681 → 709

LRR_RI; leucine-rich repeat [structural motif]

pfam02758
Location:12 → 87

PYRIN; PAAD/DAPIN/Pyrin domain

pfam05729
Location:184 → 353

NACHT; NACHT domain

pfam14484
Location:102 → 173

FISNA; Fish-specific NACHT associated domain

pfam17776
Location:487 → 594

NLRC4_HD2; NLRC4 helical domain HD2

pfam17779
Location:432 → 485

NOD2_WH; NOD2 winged helix domain
XM_017322321.3 → XP_017177810.1 NACHT, LRR and PYD domains-containing protein 12 isoform X2

Conserved Domains (6) summary

cd00116
Location:598 → 889

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 ...

sd00033
Location:569 → 597

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:72 → 241

NACHT; NACHT domain

pfam14484
Location:1 → 61

FISNA; Fish-specific NACHT associated domain

pfam17776
Location:375 → 482

NLRC4_HD2; NLRC4 helical domain HD2

pfam17779
Location:320 → 373

NOD2_WH; NOD2 winged helix domain