NLRP1: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''NACHT, LRR and PYD domains-containing protein 1''' is a [[protein]] that in humans is encoded by the ''NLRP1'' [[gene]].<ref name="pmid8781126">{{cite journal | vauthors = Thorpe KL, Abdulla S, Kaufman J, Trowsdale J, Beck S | title = Phylogeny and structure of the RING3 gene | journal = Immunogenetics | volume = 44 | issue = 5 | pages = 391–6 | date = Oct 1996 | pmid = 8781126 | pmc =  | doi = 10.1007/BF02602785 }}</ref><ref name="pmid12563287">{{cite journal | vauthors = Tschopp J, Martinon F, Burns K | title = NALPs: a novel protein family involved in inflammation | journal = Nat Rev Mol Cell Biol | volume = 4 | issue = 2 | pages = 95–104 | date = Feb 2003 | pmid = 12563287 | pmc = | doi = 10.1038/nrm1019 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NLRP1 NLR family, pyrin domain containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22861| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = NLR family, pyrin domain containing 1
| HGNCid = 14374
| Symbol = NLRP1
| AltSymbols =; NAC; CARD7; CLR17.1; DEFCAP; DEFCAP-L/S; DKFZp586O1822; KIAA0926; NALP1; PP1044
| OMIM = 606636
| ECnumber = 
| Homologene = 19080
| MGIid = 2684861
| GeneAtlas_image1 = PBB_GE_NLRP1_210113_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_NLRP1_211822_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_NLRP1_211824_x_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0008656 |text = caspase activator activity}} {{GNF_GO|id=GO:0019899 |text = enzyme binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}}
| Process = {{GNF_GO|id=GO:0006917 |text = induction of apoptosis}} {{GNF_GO|id=GO:0006919 |text = caspase activation}} {{GNF_GO|id=GO:0006952 |text = defense response}} {{GNF_GO|id=GO:0042981 |text = regulation of apoptosis}} {{GNF_GO|id=GO:0051402 |text = neuron apoptosis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 22861
    | Hs_Ensembl = ENSG00000091592
    | Hs_RefseqProtein = NP_001028225
    | Hs_RefseqmRNA = NM_001033053
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 17
    | Hs_GenLoc_start = 5345858
    | Hs_GenLoc_end = 5428001
    | Hs_Uniprot = Q9C000
    | Mm_EntrezGene = 195046
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_001004142
    | Mm_RefseqProtein = NP_001004142
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''NLR family, pyrin domain containing 1''', also known as '''NLRP1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: NLRP1 NLR family, pyrin domain containing 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22861| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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 domain|pyrin-like motif]], which is possibly involved in [[protein-protein interaction]]s. The NLRP1 protein interacts strongly with [[caspase 2]] and weakly with [[caspase 9]]. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple [[Alternative splicing|alternatively spliced]] transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: NLRP1 NLR family, pyrin domain containing 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22861| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
NLRP1 has been shown to [[Protein-protein interaction|interact]] with [[caspase 9]]<ref name=pmid11113115>{{cite journal | vauthors = Chu ZL, Pio F, Xie Z, Welsh K, Krajewska M, Krajewski S, Godzik A, Reed JC | title = A novel enhancer of the Apaf1 apoptosome involved in cytochrome c-dependent caspase activation and apoptosis | journal = J. Biol. Chem. | volume = 276 | issue = 12 | pages = 9239–45 | date = Mar 2001 | pmid = 11113115 | doi = 10.1074/jbc.M006309200 }}</ref><ref name=pmid11076957>{{cite journal | vauthors = Hlaing T, Guo RF, Dilley KA, Loussia JM, Morrish TA, Shi MM, Vincenz C, Ward PA | title = Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins | journal = J. Biol. Chem. | volume = 276 | issue = 12 | pages = 9230–8 | date = Mar 2001 | pmid = 11076957 | doi = 10.1074/jbc.M009853200 }}</ref> and [[APAF1]].<ref name=pmid11113115/>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Bertin J, DiStefano PS | title = The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. | journal = Cell Death Differ. | volume = 7 | issue = 12 | pages = 1273–4 | year = 2001 | pmid = 11270363 | doi = 10.1038/sj.cdd.4400774 }}
| citations =
* {{cite journal | vauthors = Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction. | journal = Anal. Biochem. | volume = 236 | issue = 1 | pages = 107–13 | year = 1996 | pmid = 8619474 | doi = 10.1006/abio.1996.0138 }}
*{{cite journal | author=Bertin J, DiStefano PS |title=The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. |journal=Cell Death Differ. |volume=7 |issue= 12 |pages= 1273-4 |year= 2001 |pmid= 11270363 |doi= 10.1038/sj.cdd.4400774 }}
* {{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | title = Large-scale concatenation cDNA sequencing. | journal = Genome Res. | volume = 7 | issue = 4 | pages = 353–8 | year = 1997 | pmid = 9110174 | pmc = 139146 | doi = 10.1101/gr.7.4.353 }}
*{{cite journal | author=Tschopp J, Martinon F, Burns K |title=NALPs: a novel protein family involved in inflammation. |journal=Nat. Rev. Mol. Cell Biol. |volume=4 |issue= 2 |pages= 95-104 |year= 2003 |pmid= 12563287 |doi= 10.1038/nrm1019 }}
* {{cite journal | vauthors = Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. | journal = DNA Res. | volume = 6 | issue = 1 | pages = 63–70 | year = 1999 | pmid = 10231032 | doi = 10.1093/dnares/6.1.63 }}
*{{cite journal  | author=Andersson B, Wentland MA, Ricafrente JY, ''et al.'' |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107-13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
* {{cite journal | vauthors = Hlaing T, Guo RF, Dilley KA, Loussia JM, Morrish TA, Shi MM, Vincenz C, Ward PA | title = Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins. | journal = J. Biol. Chem. | volume = 276 | issue = 12 | pages = 9230–8 | year = 2001 | pmid = 11076957 | doi = 10.1074/jbc.M009853200 }}
*{{cite journal | author=Thorpe KL, Abdulla S, Kaufman J, ''et al.'' |title=Phylogeny and structure of the RING3 gene. |journal=Immunogenetics |volume=44 |issue= 5 |pages= 391-6 |year= 1996 |pmid= 8781126 |doi=  }}
* {{cite journal | vauthors = Chu ZL, Pio F, Xie Z, Welsh K, Krajewska M, Krajewski S, Godzik A, Reed JC | title = A novel enhancer of the Apaf1 apoptosome involved in cytochrome c-dependent caspase activation and apoptosis. | journal = J. Biol. Chem. | volume = 276 | issue = 12 | pages = 9239–45 | year = 2001 | pmid = 11113115 | doi = 10.1074/jbc.M006309200 }}
*{{cite journal  | author=Yu W, Andersson B, Worley KC, ''et al.'' |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353-8 |year= 1997 |pmid= 9110174 |doi= }}
* {{cite journal | vauthors = Martinon F, Hofmann K, Tschopp J | title = The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation. | journal = Curr. Biol. | volume = 11 | issue = 4 | pages = R118–20 | year = 2001 | pmid = 11250163 | doi = 10.1016/S0960-9822(01)00056-2 }}
*{{cite journal | author=Nagase T, Ishikawa K, Suyama M, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=6 |issue= 1 |pages= 63-70 |year= 1999 |pmid= 10231032 |doi= }}
* {{cite journal | vauthors = Damiano JS, Stehlik C, Pio F, Godzik A, Reed JC | title = CLAN, a novel human CED-4-like gene. | journal = Genomics | volume = 75 | issue = 1-3 | pages = 77–83 | year = 2001 | pmid = 11472070 | doi = 10.1006/geno.2001.6579 }}
*{{cite journal | author=Hlaing T, Guo RF, Dilley KA, ''et al.'' |title=Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins. |journal=J. Biol. Chem. |volume=276 |issue= 12 |pages= 9230-8 |year= 2001 |pmid= 11076957 |doi= 10.1074/jbc.M009853200 }}
* {{cite journal | vauthors = Nath SK, Kelly JA, Namjou B, Lam T, Bruner GR, Scofield RH, Aston CE, Harley JB | title = Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus. | journal = Am. J. Hum. Genet. | volume = 69 | issue = 6 | pages = 1401–6 | year = 2002 | pmid = 11592035 | pmc = 1235552 | doi = 10.1086/324470 }}
*{{cite journal | author=Chu ZL, Pio F, Xie Z, ''et al.'' |title=A novel enhancer of the Apaf1 apoptosome involved in cytochrome c-dependent caspase activation and apoptosis. |journal=J. Biol. Chem. |volume=276 |issue= 12 |pages= 9239-45 |year= 2001 |pmid= 11113115 |doi= 10.1074/jbc.M006309200 }}
* {{cite journal | vauthors = Martinon F, Burns K, Tschopp J | title = The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. | journal = Mol. Cell | volume = 10 | issue = 2 | pages = 417–26 | year = 2002 | pmid = 12191486 | doi = 10.1016/S1097-2765(02)00599-3 }}
*{{cite journal | author=Martinon F, Hofmann K, Tschopp J |title=The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation. |journal=Curr. Biol. |volume=11 |issue= 4 |pages= R118-20 |year= 2001 |pmid= 11250163 |doi= }}
* {{cite journal | vauthors = Hiller S, Kohl A, Fiorito F, Herrmann T, Wider G, Tschopp J, Grütter MG, Wüthrich K | title = NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain. | journal = Structure | volume = 11 | issue = 10 | pages = 1199–205 | year = 2004 | pmid = 14527388 | doi = 10.1016/j.str.2003.08.009 }}
*{{cite journal | author=Damiano JS, Stehlik C, Pio F, ''et al.'' |title=CLAN, a novel human CED-4-like gene. |journal=Genomics |volume=75 |issue= 1-3 |pages= 77-83 |year= 2001 |pmid= 11472070 |doi= 10.1006/geno.2001.6579 }}
* {{cite journal | vauthors = Spritz RA, Gowan K, Bennett DC, Fain PR | title = Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. | journal = Am. J. Hum. Genet. | volume = 74 | issue = 1 | pages = 188–91 | year = 2004 | pmid = 14691733 | pmc = 1181907 | doi = 10.1086/381134 }}
*{{cite journal | author=Nath SK, Kelly JA, Namjou B, ''et al.'' |title=Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus. |journal=Am. J. Hum. Genet. |volume=69 |issue= 6 |pages= 1401-6 |year= 2002 |pmid= 11592035 |doi= }}
* {{cite journal | vauthors = Damiano JS, Oliveira V, Welsh K, Reed JC | title = Heterotypic interactions among NACHT domains: implications for regulation of innate immune responses. | journal = Biochem. J. | volume = 381 | issue = Pt 1 | pages = 213–9 | year = 2004 | pmid = 15107016 | pmc = 1133779 | doi = 10.1042/BJ20031506 }}
*{{cite journal | author=Martinon F, Burns K, Tschopp J |title=The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. |journal=Mol. Cell |volume=10 |issue= 2 |pages= 417-26 |year= 2002 |pmid= 12191486 |doi= }}
* {{cite journal | vauthors = Liu F, Lo CF, Ning X, Kajkowski EM, Jin M, Chiriac C, Gonzales C, Naureckiene S, Lock YW, Pong K, Zaleska MM, Jacobsen JS, Silverman S, Ozenberger BA | title = Expression of NALP1 in cerebellar granule neurons stimulates apoptosis. | journal = Cell. Signal. | volume = 16 | issue = 9 | pages = 1013–21 | year = 2005 | pmid = 15212762 | doi = 10.1016/j.cellsig.2004.02.006 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=Hiller S, Kohl A, Fiorito F, ''et al.'' |title=NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain. |journal=Structure |volume=11 |issue= 10 |pages= 1199-205 |year= 2004 |pmid= 14527388 |doi= }}
*{{cite journal | author=Spritz RA, Gowan K, Bennett DC, Fain PR |title=Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. |journal=Am. J. Hum. Genet. |volume=74 |issue= 1 |pages= 188-91 |year= 2004 |pmid= 14691733 |doi=  }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Damiano JS, Oliveira V, Welsh K, Reed JC |title=Heterotypic interactions among NACHT domains: implications for regulation of innate immune responses. |journal=Biochem. J. |volume=381 |issue= Pt 1 |pages= 213-9 |year= 2004 |pmid= 15107016 |doi= 10.1042/BJ20031506 }}
*{{cite journal | author=Liu F, Lo CF, Ning X, ''et al.'' |title=Expression of NALP1 in cerebellar granule neurons stimulates apoptosis. |journal=Cell. Signal. |volume=16 |issue= 9 |pages= 1013-21 |year= 2005 |pmid= 15212762 |doi= 10.1016/j.cellsig.2004.02.006 }}
}}
{{refend}}
{{refend}}
[[Category:LRR proteins]]  
{{NOD-like receptors}}
{{protein-stub}}
 
{{WikiDoc Sources}}
[[Category:LRR proteins]]
[[Category:NOD-like receptors]]
 
 
{{gene-17-stub}}

Latest revision as of 13:05, 5 September 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

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Ensembl

n/a

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

NACHT, LRR and PYD domains-containing protein 1 is a protein that in humans is encoded by the NLRP1 gene.[1][2][3]

Function

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. The NLRP1 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.[3]

Interactions

NLRP1 has been shown to interact with caspase 9[4][5] and APAF1.[4]

References

  1. ↑ Thorpe KL, Abdulla S, Kaufman J, Trowsdale J, Beck S (Oct 1996). "Phylogeny and structure of the RING3 gene". Immunogenetics. 44 (5): 391–6. doi:10.1007/BF02602785. PMID 8781126.
  2. ↑ Tschopp J, Martinon F, Burns K (Feb 2003). "NALPs: a novel protein family involved in inflammation". Nat Rev Mol Cell Biol. 4 (2): 95–104. doi:10.1038/nrm1019. PMID 12563287.
  3. ↑ 3.0 3.1 "Entrez Gene: NLRP1 NLR family, pyrin domain containing 1".
  4. ↑ 4.0 4.1 Chu ZL, Pio F, Xie Z, Welsh K, Krajewska M, Krajewski S, Godzik A, Reed JC (Mar 2001). "A novel enhancer of the Apaf1 apoptosome involved in cytochrome c-dependent caspase activation and apoptosis". J. Biol. Chem. 276 (12): 9239–45. doi:10.1074/jbc.M006309200. PMID 11113115.
  5. ↑ Hlaing T, Guo RF, Dilley KA, Loussia JM, Morrish TA, Shi MM, Vincenz C, Ward PA (Mar 2001). "Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins". J. Biol. Chem. 276 (12): 9230–8. doi:10.1074/jbc.M009853200. PMID 11076957.

Further reading


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