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

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: all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Somatic Mutation of NLRP Genes in Gastric and Colonic Cancers.
Title: Somatic Mutation of NLRP Genes in Gastric and Colonic Cancers.
Crystal structure of the human NLRP9 pyrin domain reveals a bent N-terminal loop that may regulate inflammasome assembly.
Title: Crystal structure of the human NLRP9 pyrin domain reveals a bent N-terminal loop that may regulate inflammasome assembly.
Crystal structure of the human NLRP9 pyrin domain suggests a distinct mode of inflammasome assembly.
Title: Crystal structure of the human NLRP9 pyrin domain suggests a distinct mode of inflammasome assembly.
Maternally contributed Nlrp9b expressed in human and mouse ovarian follicles contributes to early murine preimplantation development.
Title: Maternally contributed Nlrp9b expressed in human and mouse ovarian follicles contributes to early murine preimplantation development.
The Genetic variants located in NLRP9 have the potential to modulate disease course in MS patients and may be used as disease activity biomarkers to identify patients with divergent disease courses.
Title: Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course.
Observational study of gene-disease association. (HuGE Navigator)
Title: The genetics of NOD-like receptors in Crohn's disease.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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

NG_046901.1 RefSeqGene

Range

12127..42091

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_176820.4 → NP_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:11 → 93

Pyrin_NALPs; Pyrin death domain found in NALP proteins

pfam05729
Location:146 → 314

NACHT; NACHT domain

cl26161
Location:622 → 897

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 ...