Gene Gene information from NCBI Gene database.
Entrez ID 338321
Gene name NLR family pyrin domain containing 9
Gene symbol NLRP9
Synonyms (NCBI Gene)
CLR19.1NALP9NOD6PAN12
Chromosome 19
Chromosome location 19q13.42
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).
miRNA miRNA information provided by mirtarbase database.
248
miRTarBase ID miRNA Experiments Reference
MIRT517359 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT517356 hsa-miR-4648 HITS-CLIP 21572407
MIRT517355 hsa-miR-1233-5p HITS-CLIP 21572407
MIRT517354 hsa-miR-6778-5p HITS-CLIP 21572407
MIRT517353 hsa-miR-4654 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 28636595
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609663 22941 ENSG00000185792
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7RTR0
Protein name NACHT, LRR and PYD domains-containing protein 9 (Nucleotide-binding oligomerization domain protein 6) (PYRIN and NACHT-containing protein 12)
Protein function As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and
PDB 6Z2G , 7BSO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 10 86 PAAD/DAPIN/Pyrin domain Domain
PF05729 NACHT 146 314 NACHT domain Domain
PF17779 NOD2_WH 390 443 NOD2 winged helix domain Domain
PF17776 NLRC4_HD2 445 560 NLRC4 helical domain HD2 Domain
PF13516 LRR_6 740 763 Leucine Rich repeat Repeat
PF13516 LRR_6 854 877 Leucine Rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in ileum intestinal epithelial cells. Not detected in peripheral blood mononuclear cells (PubMed:28636595). Expressed in cerebral endothelial cells and, at much lower levels, in brain pericytes (PubMed:28432035). {ECO:0000269
Sequence
MAESFFSDFGLLWYLKELRKEEFWKFKELLKQPLEKFELKPIPWAELKKASKEDVAKLLD
KHYPGKQAWEVTLNLFLQINRKDLWT
KAQEEMRNKLNPYRKHMKETFQLIWEKETCLHVP
EHFYKETMKNEYKELNDAYTAAARRHTVVLEGPDGIGKTTLLRKVMLDWAEGNLWKDRFT
FVFFLNVCEMNGIAETSLLELLSRDWPESSEKIEDIFSQPERILFIMDGFEQLKFNLQLK
ADLSDDWRQRQPMPIILSSLLQKKMLPESSLLIALGKLAMQKHYFMLRHPKLIKLLGFSE
SEKKSYFSYFFGEK
SKALKVFNFVRDNGPLFILCHNPFTCWLVCTCVKQRLERGEDLEIN
SQNTTYLYASFLTTVFKAGSQSFPPKVNRARLKSLCALAAEGIWTYTFVFSHGDLRRNGL
SESEGVMWVGMRLLQRRGDCFAF
MHLCIQEFCAAMFYLLKRPKDDPNPAIGSITQLVRAS
VVQPQTLLTQVGIFMFGISTEEIVSMLETSFGFPLSKDLKQEITQCLESLSQCEADREAI
AFQELFIGLFETQEKEFVTK
VMNFFEEVFIYIGNIEHLVIASFCLKHCQHLTTLRMCVEN
IFPDDSGCISDYNEKLVYWRELCSMFITNKNFQILDMENTSLDDPSLAILCKALAQPVCK
LRKLIFTSVYFGHDSELFKAVLHNPHLKLLSLYGTSLSQSDIRHLCETLKHPMCKIEELI
LGKCDISSEVCEDIASVLACNSKLKHLSLVENPLRDEGMTLLCEALKHSHCALERLMLMY
CCLTSVSCDSISEVLLCSKSLSLLDLGSNALEDNGVASLCAALKHPGCSIRELWLMGCFL
TSDSCKDIAAVLICNGKLKTLKLGHNEIGDTGVRQLCAALQHPHCKLECLGLQTCPITRA
CCDDIAAALIACKTLRSLNLDWIALDADAVVVLCEALSHPDCALQMLGLHKSGFDEETQK
ILMSVEEKIPHLTISHGPWIDEEYKIRGVLL
Sequence length 991
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs146098794 RCV005908109
Cholangiocarcinoma Benign rs146098794 RCV005908111
Clear cell carcinoma of kidney Benign rs146098794 RCV005908110
Congenital stationary night blindness Uncertain significance rs775007010 RCV004566528
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anodontia Associate 34257569
Colorectal Neoplasms Associate 34257569
Myocardial Infarction Associate 35229543
Neoplasms Associate 34257569
Oropharyngeal Neoplasms Associate 35459784
Stomach Diseases Associate 34257569
Xerostomia Associate 35459784