InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NLRP1

Summary

InnateDB Gene

IDBG-21836.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NLRP1

Gene Name

NLR family, pyrin domain containing 1

Synonyms

CARD7; CIDED; CLR17.1; DEFCAP; DEFCAP-L/S; NAC; NALP1; PP1044; SLEV1; VAMAS1

Species

Homo sapiens

Ensembl Gene

ENSG00000091592

Encoded Proteins

IDBP-21838

NLR family, pyrin domain containing 1

IDBP-21840

NLR family, pyrin domain containing 1

IDBP-21842

NLR family, pyrin domain containing 1

IDBP-21844

NLR family, pyrin domain containing 1

IDBP-589916

NLR family, pyrin domain containing 1

IDBP-762351

IDBP-759219

IDBP-762844

IDBP-760942

IDBP-813488

NLR family, pyrin domain containing 1

IDBP-813489

NLR family, pyrin domain containing 1

IDBP-813490

NLR family, pyrin domain containing 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 18280719

NLRP1 forms a biochemical complex, or inflammasome, with NALP1, CARD7, and DEFCAP.

PMID 21098108

NLRP1 forms inflammasome upon cellular infection by Toxoplasma gondii - this process is critical in mediating the innate immune response to T. gondii infection and pathogenesis.

Entrez Gene

Summary

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 motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:5499427-5619424

Strand

Reverse strand

Band

p13.2

Transcripts

ENST00000262467	ENSP00000262467
ENST00000269280	ENSP00000269280
ENST00000354411	ENSP00000346390
ENST00000345221	ENSP00000324366
ENST00000544378	ENSP00000442029
ENST00000574406
ENST00000572272	ENSP00000460475
ENST00000571307
ENST00000572143
ENST00000577119	ENSP00000460216
ENST00000574512
ENST00000571451	ENSP00000459661
ENST00000576905	ENSP00000458303
ENST00000568641
ENST00000619223	ENSP00000484692
ENST00000617618	ENSP00000478516
ENST00000613500	ENSP00000483359

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	23 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process
GO:0019899	enzyme binding
GO:0019904	protein domain specific binding

Biological Process

GO:0006915	apoptotic process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0006952	defense response
GO:0032495	response to muramyl dipeptide
GO:0035872	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
GO:0042742	defense response to bacterium
GO:0042981	regulation of apoptotic process
GO:0045087	innate immune response (InnateDB)
GO:0050718	positive regulation of interleukin-1 beta secretion
GO:0050727	regulation of inflammatory response
GO:0051402	neuron apoptotic process

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005829	cytosol
GO:0072558	NLRP1 inflammasome complex

Orthologs

No orthologs found for this gene

Pathways

NETPATH

REACTOME

REACT_75927

The NLRP1 inflammasome pathway

REACT_75900

Inflammasomes pathway

REACT_6802

Innate Immune System pathway

REACT_75913

Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways pathway

REACT_6900

Immune System pathway

KEGG

hsa04621

NOD-like receptor signaling pathway pathway

INOH

PID NCI

anthraxpathway

Cellular roles of Anthrax toxin

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_001033053 NM_014922 NM_033004 NM_033006 NM_033007

HUGO

OMIM

CCDS

CCDS32537 CCDS42244 CCDS42245 CCDS42246 CCDS58508

HPRD

IMGT

EMBL

GenPept

RNA Seq Atlas