• Gene id: 338321

Gene Summary

• Gene Symbol: NLRP9   Gene   UCSC   Ensembl
• Aliases: CLR19.1, NALP9, NOD6, PAN12
• Gene name: NLR family pyrin domain containing 9
• Alternate names: NACHT, LRR and PYD domains-containing protein 9, 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 oligomeriz,
• Gene location: 19q13.42 (55738401: 55708437)     Exons: 11     NC_000019.10
• Gene summary(Entrez): 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).
• OMIM: 609663

Protein Summary

• Protein general information: Q7RTR0  
  • Name: NACHT, LRR and PYD domains containing protein 9 (Nucleotide binding oligomerization domain protein 6) (PYRIN and NACHT containing protein 12)
  • Length: 991  
  • Mass: 113312
  • Tissue specificity: Expressed in ileum intestinal epithelial cells. Not detected in peripheral blood mononuclear cells (PubMed
• Sequence:

  MAESFFSDFGLLWYLKELRKEEFWKFKELLKQPLEKFELKPIPWAELKKASKEDVAKLLDKHYPGKQAWEVTLNL
  FLQINRKDLWTKAQEEMRNKLNPYRKHMKETFQLIWEKETCLHVPEHFYKETMKNEYKELNDAYTAAARRHTVVL
  EGPDGIGKTTLLRKVMLDWAEGNLWKDRFTFVFFLNVCEMNGIAETSLLELLSRDWPESSEKIEDIFSQPERILF
  IMDGFEQLKFNLQLKADLSDDWRQRQPMPIILSSLLQKKMLPESSLLIALGKLAMQKHYFMLRHPKLIKLLGFSE
  SEKKSYFSYFFGEKSKALKVFNFVRDNGPLFILCHNPFTCWLVCTCVKQRLERGEDLEINSQNTTYLYASFLTTV
  FKAGSQSFPPKVNRARLKSLCALAAEGIWTYTFVFSHGDLRRNGLSESEGVMWVGMRLLQRRGDCFAFMHLCIQE
  FCAAMFYLLKRPKDDPNPAIGSITQLVRASVVQPQTLLTQVGIFMFGISTEEIVSMLETSFGFPLSKDLKQEITQ
  CLESLSQCEADREAIAFQELFIGLFETQEKEFVTKVMNFFEEVFIYIGNIEHLVIASFCLKHCQHLTTLRMCVEN
  IFPDDSGCISDYNEKLVYWRELCSMFITNKNFQILDMENTSLDDPSLAILCKALAQPVCKLRKLIFTSVYFGHDS
  ELFKAVLHNPHLKLLSLYGTSLSQSDIRHLCETLKHPMCKIEELILGKCDISSEVCEDIASVLACNSKLKHLSLV
  ENPLRDEGMTLLCEALKHSHCALERLMLMYCCLTSVSCDSISEVLLCSKSLSLLDLGSNALEDNGVASLCAALKH
  PGCSIRELWLMGCFLTSDSCKDIAAVLICNGKLKTLKLGHNEIGDTGVRQLCAALQHPHCKLECLGLQTCPITRA
  CCDDIAAALIACKTLRSLNLDWIALDADAVVVLCEALSHPDCALQMLGLHKSGFDEETQKILMSVEEKIPHLTIS
  HGPWIDEEYKIRGVLL

• Structural information:
  • Protein Domains: (1..9-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (146..46-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136"-)
  • Interpro: IPR004020  IPR011029  IPR001611  IPR032675  IPR007111   IPR041267  IPR041075  IPR027417  
  • Prosite: PS50824 PS50837
  • STRING: ENSP00000331857
• Other Databases: GeneCards:  NLRP9  Malacards:  NLRP9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061702	inflammasome complex	IDA	cellular component
GO:0051607	defense response to virus	ISS	biological process
GO:0045087	innate immune response	ISS	biological process
GO:0032741	positive regulation of interleukin-18 production	ISS	biological process
GO:0070269	pyroptosis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0061702	inflammasome complex	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0061702	inflammasome complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881