Nlrp5 NLR family, pyrin domain containing 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nlrp5provided by MGI
Official Full Name: NLR family, pyrin domain containing 5provided by MGI
Primary source: MGI:MGI:1345193
See related: Ensembl:ENSMUSG00000015721 AllianceGenome:MGI:1345193
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Op1; Mater; Nalp5; PAN11
Summary: This gene encodes a member of the NACHT, leucine-rich repeat, and pyrin domain containing family. Members of this family have a pyrin domain at the N-terminus, a central NACHT domain, and a C-terminal leucine-rich repeat domain. This gene encodes a maternal-effect factor that is essential for early embryonic development in the mouse. Homozygous null mutant females are sterile, and embryos die following the first cleavage. This gene is required for endoplasmic reticulum redistribution and calcium homeostasis in oocytes. In addition, ovulated oocytes mutant for this gene have abnormal mitochondrial localization and increased mitochondrial activity, which results in mitochondrial damage and early embryonic lethality. Pseudogenes of this gene have been found on chromosomes 7 and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Expression: Biased expression in ovary adult (RPKM 5.4) and testis adult (RPKM 0.7) See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 10.22 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (23085314..23141348)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (23385889..23441923)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

The expression of Mater protein is decreased in mature oocytes from old versus young mice.
Title: Decrease in expression of maternal effect gene Mater is associated with maternal ageing in mice.
MATER is part of the subcortical maternal complex (SCMC). SCMC is required for formation of the cytoplasmic F-actin meshwork that controls the central position of the spindle and ensures symmetric division.
Title: The subcortical maternal complex controls symmetric division of mouse zygotes by regulating F-actin dynamics.
MATER is required for endoplasmic reticulum distribution and Ca2+ homeostasis in oocytes, likely due to defects in lattice-mediated ER positioning and/or redistribution.
Title: The role of MATER in endoplasmic reticulum distribution and calcium homeostasis in mouse oocytes.
It was concluded that lack of Nlrp5 in oocytes triggers premature activation of the mitochondrial pool, causing mitochondrial damage that cannot be rescued by inactivation of Bax.
Title: NLRP5 mediates mitochondrial function in mouse oocytes and embryos.
Transgenic expression of MATER induces antigen-specific tolerance with a significant reduction in ovarian autoimmunity.
Title: Autoimmune oophoritis with multiple molecular targets mitigated by transgenic expression of mater.
MATER co-localizes with PADI6 at the oocyte cytoplasmic lattices.
Title: Potential role for MATER in cytoplasmic lattice formation in murine oocytes.
The highest Mater mRNA levels were detected in oocytes in the pre-antral follicle stage.
Title: Quantification of oocyte-specific transcripts in follicle-enclosed oocytes during antral development and maturation in vitro.
Results describe a subcortical maternal complex, containing Mater, Floped, TLE6, and Filia, that is essential for preimplantation mouse embryogenesis.
Title: A subcortical maternal complex essential for preimplantation mouse embryogenesis.
The plasticity of the FILIA-MATER complex localization may reflect the regulative nature of preimplantation mouse development.
Title: Maternally derived FILIA-MATER complex localizes asymmetrically in cleavage-stage mouse embryos.
Mater gene transcription and protein translation are active during oogenesis, but appear inactive during early embryogenesis
Title: Developmental expression and subcellular localization of mouse MATER, an oocyte-specific protein essential for early development.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Nlrp5 (e-PCR), detects polymorphism
- UniSTS:516676

Mater (e-PCR), detects polymorphism
- UniSTS:164694

Nlrp5 (e-PCR), detects polymorphism
- UniSTS:526828

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tubulin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cortical granule exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryo implantation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of organelle localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of spindle localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of RNA stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in apical cortex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cortical granule	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
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 ooplasm	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of subcortical maternal complex	IBA Inferred from Biological aspect of Ancestor more info
part_of subcortical maternal complex	IDA Inferred from Direct Assay more info	PubMed
part_of subcortical maternal complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NACHT, LRR and PYD domains-containing protein 5

Names: NACHT, leucine rich repeat and PYD containing 5; maternal antigen that embryos require; ooplasm-specific protein 1

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_001039143.2 → NP_001034232.1 NACHT, LRR and PYD domains-containing protein 5 isoform b

See identical proteins and their annotated locations for NP_001034232.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' coding region compared to variant 1. It encodes isoform b, which is shorter than isoform a.

Source sequence(s)

AC159288, AK087774, BC053384

Consensus CDS

CCDS20929.1

UniProtKB/Swiss-Prot

Q3UXD0, Q53ZD5, Q6VSF9, Q6VSG0, Q6VSG1, Q6VSG2, Q6VSG3, Q6VSG4, Q6VSG5, Q6XZF2, Q7TPU9, Q9JLR2, Q9R1M5

Related

ENSMUSP00000083524.6, ENSMUST00000086341.12

Conserved Domains (4) summary

cd00116
Location:763 → 1054

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:763 → 790

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:1019 → 1044

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:175 → 343

NACHT; NACHT domain
NM_001305857.1 → NP_001292786.1 NACHT, LRR and PYD domains-containing protein 5 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform c, which is shorter than isoform a.

Source sequence(s)

AC159288, AK087774, BC053384

Consensus CDS

CCDS85233.1

UniProtKB/Swiss-Prot

Q3UXD0, Q53ZD5, Q6VSF9, Q6VSG0, Q6VSG1, Q6VSG2, Q6VSG3, Q6VSG4, Q6VSG5, Q6XZF2, Q7TPU9, Q9JLR2, Q9R1M5

Related

ENSMUSP00000104080.2, ENSMUST00000108441.8

Conserved Domains (7) summary

PTZ00121
Location:5 → 138

PTZ00121; MAEBL; Provisional

smart00368
Location:975 → 1002

LRR_RI; Leucine rich repeat, ribonuclease inhibitor type

sd00033
Location:750 → 778

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:191 → 359

NACHT; NACHT domain

pfam17776
Location:496 → 610

NLRC4_HD2; NLRC4 helical domain HD2

pfam17779
Location:438 → 494

NOD2_WH; NOD2 winged helix domain

cl42388
Location:685 → 960

PPP1R42; protein phosphatase 1 regulatory subunit 42
NM_011860.3 → NP_035990.1 NACHT, LRR and PYD domains-containing protein 5 isoform a

See identical proteins and their annotated locations for NP_035990.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC159288, AK087774, BC053384

Consensus CDS

CCDS20930.1

UniProtKB/Swiss-Prot

Q3UXD0, Q53ZD5, Q6VSF9, Q6VSG0, Q6VSG1, Q6VSG2, Q6VSG3, Q6VSG4, Q6VSG5, Q6XZF2, Q7TPU9, Q9JLR2, Q9R1M5

Related

ENSMUSP00000015866.8, ENSMUST00000015866.14

Conserved Domains (6) summary

pfam06513
Location:5 → 146

DUF1103; Repeat of unknown function (DUF1103)

smart00382
Location:189 → 329

AAA; ATPases associated with a variety of cellular activities

cd00116
Location:779 → 1070

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:779 → 806

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:1035 → 1060

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:191 → 359

NACHT; NACHT domain

RNA

NR_131241.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon at the 5' end and uses an alternate internal splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC159288, AK087774, BC053384

Related

ENSMUST00000133237.2
NR_131242.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an exon at the 5' end, uses an alternate internal splice site, and lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC159288, AY329491, BC053384, BG071729

Related

ENSMUST00000139661.8