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

    Gene ID: 23968, updated on 31-Aug-2021

    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
    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
    N; O; Mat; 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
    NEW
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    Genomic context

    See Nlrp5 in Genome Data Viewer
    Location:
    7 A3; 7 10.22 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (24170916..24226940)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene crumbs homolog 1 pseudogene Neighboring gene NLR family, pyrin domain containing 4E Neighboring gene keratin 8, pseudogene Neighboring gene coiled-coil domain containing 15 pseudogene Neighboring gene high mobility group box 3 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)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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 
    acts_upstream_of_or_within cellular protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular protein-containing complex assembly 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 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 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 
    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
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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)

    NEW Try the new Transcript table

    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_001039143.2NP_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
      Q9R1M5
      Related
      ENSMUSP00000083524.6, ENSMUST00000086341.12
      Conserved Domains (4) summary
      cd00116
      Location:7631054
      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:763790
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:10191044
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:175343
      NACHT; NACHT domain
    2. NM_001305857.1NP_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
      Q9R1M5
      Related
      ENSMUSP00000104080.2, ENSMUST00000108441.8
      Conserved Domains (6) summary
      pfam06513
      Location:5146
      DUF1103; Repeat of unknown function (DUF1103)
      smart00368
      Location:9751002
      LRR_RI; Leucine rich repeat, ribonuclease inhibitor type
      smart00382
      Location:189329
      AAA; ATPases associated with a variety of cellular activities
      cd00116
      Location:685960
      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:750778
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:191359
      NACHT; NACHT domain
    3. NM_011860.3NP_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
      Q9R1M5
      Related
      ENSMUSP00000015866.8, ENSMUST00000015866.14
      Conserved Domains (6) summary
      pfam06513
      Location:5146
      DUF1103; Repeat of unknown function (DUF1103)
      smart00382
      Location:189329
      AAA; ATPases associated with a variety of cellular activities
      cd00116
      Location:7791070
      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:779806
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:10351060
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:191359
      NACHT; NACHT domain

    RNA

    1. 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
    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

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      23085314..23141348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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