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    NLRP8 NLR family pyrin domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 126205, updated on 5-Mar-2024

    Summary

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    Official Symbol
    NLRP8provided by HGNC
    Official Full Name
    NLR family pyrin domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:22940
    See related
    Ensembl:ENSG00000179709 MIM:609659; AllianceGenome:HGNC:22940
    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
    PAN4; NALP8; NOD16; CLR19.2
    Summary
    This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    19q13.43
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55947832..55988629)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (59047150..59087952)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56459198..56499995)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NLR family pyrin domain containing 11 Neighboring gene NLR family pyrin domain containing 4 Neighboring gene NLR family pyrin domain containing 13 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:56480507-56481706 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:56537936-56539135 Neighboring gene NLR family pyrin domain containing 5 Neighboring gene long intergenic non-protein coding RNA 1864

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression analysis of the NLRP gene family suggests a role in human preimplantation development. Zhang P, et al. PLoS One, 2008 Jul 23. PMID 18648497, Free PMC Article
    2. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Rovelet-Lecrux A, et al. Eur J Hum Genet, 2012 Jun. PMID 22166940, Free PMC Article
    3. NODs: intracellular proteins involved in inflammation and apoptosis. Inohara N, et al. Nat Rev Immunol, 2003 May. PMID 12766759
    4. The genetics of NOD-like receptors in Crohn's disease. Cummings JR, et al. Tissue Antigens, 2010 Jul. PMID 20403135
    5. NALPs: a novel protein family involved in inflammation. Tschopp J, et al. Nat Rev Mol Cell Biol, 2003 Feb. PMID 12563287

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: The genetics of NOD-like receptors in Crohn's disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    NACHT, LRR and PYD domains-containing protein 8
    Names
    NACHT, leucine rich repeat and PYD containing 8
    PYRIN and NACHT-containing protein 4
    nucleotide-binding oligomerization domain protein 16
    nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8

    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.

    Genomic

    1. NG_051553.1 RefSeqGene

      Range
      5001..45798
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317000.1 → NP_001303929.1  NACHT, LRR and PYD domains-containing protein 8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AY154463, BK001109
      Consensus CDS
      CCDS82402.1
      UniProtKB/Swiss-Prot
      Q86W28
      Related
      ENSP00000468121.1, ENST00000590542.1
      Conserved Domains (6) summary
      COG4886
      Location:810 → 974
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:775 → 988
      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:41 → 123
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:818 → 846
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:734 → 760
      LRR_AMN1; leucine-rich repeat [structural motif]
      cl21455
      Location:205 → 372
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_176811.2 → NP_789781.2  NACHT, LRR and PYD domains-containing protein 8 isoform 1

      See identical proteins and their annotated locations for NP_789781.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BK001109
      Consensus CDS
      CCDS12937.1
      UniProtKB/Swiss-Prot
      Q7RTR4, Q86W28
      Related
      ENSP00000291971.3, ENST00000291971.7
      Conserved Domains (5) summary
      COG4886
      Location:810 → 993
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:781 → 1007
      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:41 → 123
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00034
      Location:790 → 817
      LRR_AMN1; leucine-rich repeat [structural motif]
      cl21455
      Location:205 → 372
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      55947832..55988629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      59047150..59087952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319788.1 → XP_054175763.1  NACHT, LRR and PYD domains-containing protein 8 isoform X1

    2. XM_054319789.1 → XP_054175764.1  NACHT, LRR and PYD domains-containing protein 8 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86W28.2 GenPept UniProtKB/Swiss-Prot:Q86W28

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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