• Gene id: 22861

Gene Summary

• Gene Symbol: NLRP1   Gene   UCSC   Ensembl
• Aliases: AIADK, CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, JRRP, MSPC, NAC, NALP1, PP1044, SLEV1, VAMAS1
• Gene name: NLR family pyrin domain containing 1
• Alternate names: NACHT, LRR and PYD domains-containing protein 1, NACHT, LRR and PYD containing protein 1, NACHT, leucine rich repeat and PYD (pyrin domain) containing 1, NACHT, leucine rich repeat and PYD containing 1, caspase recruitment domain protein 7, caspase recruitment,
• Gene location: 17p13.2 (5584508: 5501395)     Exons: 18     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like
• OMIM: 606636

Protein Summary

• Protein general information: Q9C000  
  • Name: NACHT, LRR and PYD domains containing protein 1 (Caspase recruitment domain containing protein 7) (Death effector filament forming ced 4 like apoptosis protein) (Nucleotide binding domain and caspase recruitment domain)
  • Length: 1473  
  • Mass: 165866
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MAGGAWGRLACYLEFLKKEELKEFQLLLANKAHSRSSSGETPAQPEKTSGMEVASYLVAQYGEQRAWDLALHTWE
  QMGLRSLCAQAQEGAGHSPSFPYSPSEPHLGSPSQPTSTAVLMPWIHELPAGCTQGSERRVLRQLPDTSGRRWRE
  ISASLLYQALPSSPDHESPSQESPNAPTSTAVLGSWGSPPQPSLAPREQEAPGTQWPLDETSGIYYTEIRERERE
  KSEKGRPPWAAVVGTPPQAHTSLQPHHHPWEPSVRESLCSTWPWKNEDFNQKFTQLLLLQRPHPRSQDPLVKRSW
  PDYVEENRGHLIEIRDLFGPGLDTQEPRIVILQGAAGIGKSTLARQVKEAWGRGQLYGDRFQHVFYFSCRELAQS
  KVVSLAELIGKDGTATPAPIRQILSRPERLLFILDGVDEPGWVLQEPSSELCLHWSQPQPADALLGSLLGKTILP
  EASFLITARTTALQNLIPSLEQARWVEVLGFSESSRKEYFYRYFTDERQAIRAFRLVKSNKELWALCLVPWVSWL
  ACTCLMQQMKRKEKLTLTSKTTTTLCLHYLAQALQAQPLGPQLRDLCSLAAEGIWQKKTLFSPDDLRKHGLDGAI
  ISTFLKMGILQEHPIPLSYSFIHLCFQEFFAAMSYVLEDEKGRGKHSNCIIDLEKTLEAYGIHGLFGASTTRFLL
  GLLSDEGEREMENIFHCRLSQGRNLMQWVPSLQLLLQPHSLESLHCLYETRNKTFLTQVMAHFEEMGMCVETDME
  LLVCTFCIKFSRHVKKLQLIEGRQHRSTWSPTMVVLFRWVPVTDAYWQILFSVLKVTRNLKELDLSGNSLSHSAV
  KSLCKTLRRPRCLLETLRLAGCGLTAEDCKDLAFGLRANQTLTELDLSFNVLTDAGAKHLCQRLRQPSCKLQRLQ
  LVSCGLTSDCCQDLASVLSASPSLKELDLQQNNLDDVGVRLLCEGLRHPACKLIRLGLDQTTLSDEMRQELRALE
  QEKPQLLIFSRRKPSVMTPTEGLDTGEMSNSTSSLKRQRLGSERAASHVAQANLKLLDVSKIFPIAEIAEESSPE
  VVPVELLCVPSPASQGDLHTKPLGTDDDFWGPTGPVATEVVDKEKNLYRVHFPVAGSYRWPNTGLCFVMREAVTV
  EIEFCVWDQFLGEINPQHSWMVAGPLLDIKAEPGAVEAVHLPHFVALQGGHVDTSLFQMAHFKEEGMLLEKPARV
  ELHHIVLENPSFSPLGVLLKMIHNALRFIPVTSVVLLYHRVHPEEVTFHLYLIPSDCSIRKAIDDLEMKFQFVRI
  HKPPPLTPLYMGCRYTVSGSGSGMLEILPKELELCYRSPGEDQLFSEFYVGHLGSGIRLQVKDKKDETLVWEALV
  KPGDLMPATTLIPPARIAVPSPLDAPQLLHFVDQYREQLIARVTSVEVVLDKLHGQVLSQEQYERVLAENTRPSQ
  MRKLFSLSQSWDRKCKDGLYQALKETHPHLIMELWEKGSKKGLLPLSS

• Structural information:
  • Protein Domains: (1..9-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (328..63-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136-)
    (1079..136-)
    (/note="FIIND-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01174-)
    (-)
  • Interpro: IPR001315  IPR033516  IPR004020  IPR011029  IPR025307   IPR001611  IPR032675  IPR007111  IPR041267  IPR041075  IPR027417  
  • Prosite: PS50209 PS50824 PS51830 PS51450 PS50837
  • CDD: cd08330
  • PDB: 1PN5 3KAT 4IFP 4IM6 5Y3S
  • PDBsum: 1PN5 3KAT 4IFP 4IM6 5Y3S
  • DIP: 38407
  • STRING: ENSP00000478516
• Other Databases: GeneCards:  NLRP1  Malacards:  NLRP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051402	neuron apoptotic process	IDA	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0061702	inflammasome complex	IBA	cellular component
GO:0050718	positive regulation of interleukin-1 beta secretion	IBA	biological process
GO:0072558	NLRP1 inflammasome complex	IDA	cellular component
GO:1904784	NLRP1 inflammasome complex assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0061702	inflammasome complex	IEA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050727	regulation of inflammatory response	IC	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0032495	response to muramyl dipeptide	ISS	biological process
GO:0042742	defense response to bacterium	ISS	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	ISS	biological process
GO:0072558	NLRP1 inflammasome complex	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0061702	inflammasome complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0006915	apoptotic process	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	NAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Vitiligo	KEGG:H01372
Vitiligo	KEGG:H01372
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq