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

Gene ID: 338321, updated on 23-Nov-2021

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
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
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Genomic context

See NLRP9 in Genome Data Viewer
Location:
19q13.42
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (55708438..55738402, complement)
105.20201022 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 U2 small nuclear RNA auxiliary factor 2 Neighboring gene epsin 1 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

Associated conditions

Description Tests
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 inflammatory response IEA
Inferred from Electronic Annotation
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 pyroptosis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of inflammasome complex IDA
Inferred from Direct Assay
more info
PubMed 

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)

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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_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
    Q7RTR0
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011526895.1XP_011525197.1  NACHT, LRR and PYD domains-containing protein 9 isoform X1

    See identical proteins and their annotated locations for XP_011525197.1

    Conserved Domains (1) summary
    cd00116
    Location:2237
    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 ...
  2. XM_011526894.2XP_011525196.1  NACHT, LRR and PYD domains-containing protein 9 isoform X1

    See identical proteins and their annotated locations for XP_011525196.1

    Conserved Domains (1) summary
    cd00116
    Location:2237
    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 ...
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