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    NLRP9 NLR family pyrin domain containing 9 [ Homo sapiens (human) ]

    Gene ID: 338321, updated on 27-Nov-2024

    Summary

    Official Symbol
    NLRP9provided by HGNC
    Official Full Name
    NLR family pyrin domain containing 9provided by HGNC
    Primary source
    HGNC:HGNC:22941
    See related
    Ensembl:ENSG00000185792 MIM:609663; AllianceGenome:HGNC:22941
    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
    NOD6; NALP9; PAN12; CLR19.1
    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). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in prostate (RPKM 1.0), testis (RPKM 0.4) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NLRP9 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55708438..55738402, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58805410..58837757, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56219804..56249768, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15107 Neighboring gene U2 small nuclear RNA auxiliary factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11061 Neighboring gene Sharpr-MPRA regulatory region 14549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56192159-56192659 Neighboring gene epsin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56213120-56214004 Neighboring gene vomeronasal 1 receptor 106 pseudogene Neighboring gene RN7SK pseudogene 109 Neighboring gene uncharacterized LOC105372465 Neighboring gene ret finger protein like 4A

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 
    Process Evidence Code Pubs
    involved_in defense response to virus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-18 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pyroptotic inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of canonical inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of canonical inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    NACHT, LRR and PYD domains-containing protein 9
    Names
    NACHT, LRR and PYD containing protein 9
    NACHT, leucine rich repeat and PYD containing 9
    PYRIN and NACHT-containing protein 12
    nucleotide-binding oligomerization domain protein 6
    nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9

    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_046901.1 RefSeqGene

      Range
      12127..42091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_176820.4NP_789790.2  NACHT, LRR and PYD domains-containing protein 9

      See identical proteins and their annotated locations for NP_789790.2

      Status: REVIEWED

      Source sequence(s)
      BK001114, KC877756
      Consensus CDS
      CCDS12934.1
      UniProtKB/Swiss-Prot
      B2RN12, Q7RTR0, Q86W27
      Related
      ENSP00000331857.2, ENST00000332836.7
      Conserved Domains (3) summary
      cd08320
      Location:1193
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      pfam05729
      Location:146314
      NACHT; NACHT domain
      cl26161
      Location:622897
      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 ...

    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
      55708438..55738402 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58805410..58837757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)