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NLRP1 (NM_033004) - NLR family pyrin domain containing 1

Nacht, Lrr And Pyd Domains-Containing Protein 1 Isoform 1

Mutations Visualisation

Protein summary

This is preferred isoform of NLRP1 protein. View all 5 isoforms
NLRP1: NACHT, LRR and PYD domains-containing protein 1 isoform 1
Description:

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].

Strand
-
Chromosome
17
Protein
1473 residues
All mutations
269
PTM sites
6
CDS
5,418,073 - 5,487,277
Transcription
5,417,437 - 5,487,832
28.24% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 22861
UniProt
Ensembl