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    NLRP5 NLR family pyrin domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 126206, updated on 4-Jan-2025

    Summary

    Official Symbol
    NLRP5provided by HGNC
    Official Full Name
    NLR family pyrin domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:21269
    See related
    Ensembl:ENSG00000171487 MIM:609658; AllianceGenome:HGNC:21269
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MATER; NALP5; PAN11; PYPAF8; CLR19.8; OZEMA19
    Summary
    The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See NLRP5 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55999726..56061810)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (59098923..59161007)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56511092..56573176)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NLR family pyrin domain containing 13 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:56480507-56481706 Neighboring gene NLR family pyrin domain containing 8 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:56537936-56539135 Neighboring gene long intergenic non-protein coding RNA 1864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56596377-56596878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56596879-56597378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:56597714-56598313 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51805 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:56602588-56603787 Neighboring gene zinc finger protein 787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:56622697-56623374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15113 Neighboring gene uncharacterized LOC124904773

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Oocyte/zygote/embryo maturation arrest 19
    MedGen: C5830442 OMIM: 620333 GeneReviews: Not available
    not available

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables protein binding PubMed 
    enables tubulin binding PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization  
    involved_in cortical granule exocytosis  
    involved_in establishment of organelle localization  
    involved_in establishment of spindle localization  
    involved_in exocytosis  
    involved_in positive regulation of embryonic development  
    involved_in regulation of cell division  
    involved_in regulation of inflammatory response  
    involved_in regulation of protein localization  
    Component Evidence Code Pubs
    located_in Golgi apparatus PubMed 
    is_active_in cell cortex  
    located_in cell cortex  
    located_in cortical granule PubMed 
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    is_active_in cytosol  
    located_in intracellular membrane-bounded organelle  
    is_active_in mitochondrion  
    located_in mitochondrion PubMed 
    located_in mitochondrion  
    located_in nucleolus  
    is_active_in nucleus  
    located_in nucleus PubMed 
    part_of subcortical maternal complex  
    part_of subcortical maternal complex PubMed 

    General protein information

    Preferred Names
    NACHT, LRR and PYD domains-containing protein 5
    Names
    NACHT, leucine rich repeat and PYD containing 5
    mater protein homolog
    maternal antigen that embryos require
    nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5

    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.

    Genomic

    1. NG_046924.1 RefSeqGene

      Range
      17944..80028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001433705.1 → NP_001420634.1  NACHT, LRR and PYD domains-containing protein 5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC011470, AC024580
    2. NM_153447.4 → NP_703148.4  NACHT, LRR and PYD domains-containing protein 5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC024580, AY154460
      Consensus CDS
      CCDS12938.1
      UniProtKB/Swiss-Prot
      A8MTY4, P59047, Q86W29
      Related
      ENSP00000375063.3, ENST00000390649.8
      Conserved Domains (5) summary
      cd00116
      Location:897 → 1159
      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 ...
      cd08320
      Location:65 → 148
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:839 → 863
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:868 → 895
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:280 → 443
      NACHT; NACHT domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55999726..56061810
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      59098923..59161007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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