• Gene id: 147945

Gene Summary

• Gene Symbol: NLRP4   Gene   UCSC   Ensembl
• Aliases: CLR19.5, CT58, NALP4, PAN2, PYPAF4, RNH2
• Gene name: NLR family pyrin domain containing 4
• Alternate names: NACHT, LRR and PYD domains-containing protein 4, NACHT, leucine rich repeat and PYD containing 4, PAAD and NACHT-containing protein 2, PYRIN and NACHT-containing protein 2, PYRIN-containing APAF1-like protein 4, cancer/testis antigen 58, nucleotide-binding olig,
• Gene location: 19q13.43 (55836539: 55881854)     Exons: 10     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain

Protein Summary

• Protein general information: Q96MN2  
  • Name: NACHT, LRR and PYD domains containing protein 4 (Cancer/testis antigen 58) (CT58) (PAAD and NACHT containing protein 2) (PAN2) (PYRIN and NACHT containing protein 2) (PYRIN containing APAF1 like protein 4) (PYPAF4) (Ribonuclease inhibitor 2)
  • Length: 994  
  • Mass: 113415
• Sequence:

  MAASFFSDFGLMWYLEELKKEEFRKFKEHLKQMTLQLELKQIPWTEVKKASREELANLLIKHYEEQQAWNITLRI
  FQKMDRKDLCMKVMRERTGYTKTYQAHAKQKFSRLWSSKSVTEIHLYFEEEVKQEECDHLDRLFAPKEAGKQPRT
  VIIQGPQGIGKTTLLMKLMMAWSDNKIFRDRFLYTFYFCCRELRELPPTSLADLISREWPDPAAPITEIVSQPER
  LLFVIDSFEELQGGLNEPDSDLCGDLMEKRPVQVLLSSLLRKKMLPEASLLIAIKPVCPKELRDQVTISEIYQPR
  GFNESDRLVYFCCFFKDPKRAMEAFNLVRESEQLFSICQIPLLCWILCTSLKQEMQKGKDLALTCQSTTSVYSSF
  VFNLFTPEGAEGPTPQTQHQLKALCSLAAEGMWTDTFEFCEDDLRRNGVVDADIPALLGTKILLKYGERESSYVF
  LHVCIQEFCAALFYLLKSHLDHPHPAVRCVQELLVANFEKARRAHWIFLGCFLTGLLNKKEQEKLDAFFGFQLSQ
  EIKQQIHQCLKSLGERGNPQGQVDSLAIFYCLFEMQDPAFVKQAVNLLQEANFHIIDNVDLVVSAYCLKYCSSLR
  KLCFSVQNVFKKEDEHSSTSDYSLICWHHICSVLTTSGHLRELQVQDSTLSESTFVTWCNQLRHPSCRLQKLGIN
  NVSFSGQSVLLFEVLFYQPDLKYLSFTLTKLSRDDIRSLCDALNYPAGNVKELALVNCHLSPIDCEVLAGLLTNN
  KKLTYLNVSCNQLDTGVPLLCEALCSPDTVLVYLMLAFCHLSEQCCEYISEMLLRNKSVRYLDLSANVLKDEGLK
  TLCEALKHPDCCLDSLCLVKCFITAAGCEDLASALISNQNLKILQIGCNEIGDVGVQLLCRALTHTDCRLEILGL
  EECGLTSTCCKDLASVLTCSKTLQQLNLTLNTLDHTGVVVLCEALRHPECALQVLGLRKTDFDEETQALLTAEEE
  RNPNLTITDDCDTITRVEI

• Structural information:
  • Protein Domains: (1..9-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (149..47-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136"-)
  • Interpro: IPR004020  IPR011029  IPR001611  IPR032675  IPR007111   IPR041267  IPR041075  IPR027417  
  • Prosite: PS50824 PS50837
  • PDB: 4EWI
  • PDBsum: 4EWI
  • DIP: 60912
  • STRING: ENSP00000301295
• Other Databases: GeneCards:  NLRP4  Malacards:  NLRP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0032479	regulation of type I interferon production	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05130	Pathogenic Escherichia coli infection
hsa05135	Yersinia infection

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray