NLRP1 (Homo sapiens)

Description [+]

Synonyms: NLRP1, KIAA0926, DKFZP586O1822, CARD7, NAC, CLR17.1, DEFCAP
Species: Metazoa;Bilateria;Deuterostoma;Chordata;Vertebrata;Mammalia;Primates;Hominidae; Homo sapiens
Short gene description: NACHT, LRR and PYD domains-containing protein 1 (Death effector filament-forming ced-4-like apoptosis protein)(Nucleotide-binding domain and caspase recruitment domain)(Caspase recruitment domain-containing protein 7) [Source:UniProtKB/Swiss-Prot;Acc:Q9C000]
Family: CARD-containing protein : CARD adapter protein
Process: immunity,
Pathways: inflammasome,
Criteria: manually curated
Curator comment:
Mouse ortholog(s): Nlrp1a Nlrp1c Nlrp1b
WIKI: NLRP1-H_sapiens

References [+]

NALPs: a novel protein family involved in inflammation.
Tschopp J, Martinon F, Burns K
A newly discovered family of cytoplasmic proteins--the NALPs--has been implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cell's response to microbial infection. Like the structurally related apoptotic protease-activating factor-1 (APAF-1), which is responsible for the activation of caspase-9, the NALP1 protein forms a large, signal-induced multiprotein complex, the inflammasome, resulting in the activation of pro-inflammatory caspases. Nat Rev Mol Cell Biol. 2003 Feb;4(2):95-104.

NOD-LRR proteins: role in host-microbial interactions and inflammatory disease.
Inohara, Chamaillard, McDonald C, Nunez G
Nods are cytosolic proteins that contain a nucleotide-binding oligomerization domain (NOD). These proteins include key regulators of apoptosis and pathogen resistance in mammals and plants. A large number of Nods contain leucine-rich repeats (LRRs), hence referred to as NOD-LRR proteins. Genetic variation in several NOD-LRR proteins, including human Nod2, Cryopyrin, and CIITA, as well as mouse Naip5, is associated with inflammatory disease or increased susceptibility to microbial infections. Nod1, Nod2, Cryopyrin, and Ipaf have been implicated in protective immune responses against pathogens. Together with Toll-like receptors, Nod1 and Nod2 appear to play important roles in innate and acquired immunity as sensors of bacterial components. Specifically, Nod1 and Nod2 participate in the signaling events triggered by host recognition of specific motifs in bacterial peptidoglycan and, upon activation, induce the production of proinflammatory mediators. Naip5 is involved in host resistance to Legionella pneumophila through cell autonomous mechanisms, whereas CIITA plays a critical role in antigen presentation and development of antigen-specific T lymphocytes. Thus, NOD-LRR proteins appear to be involved in a diverse array of processes required for host immune reactions against pathogens. Annu Rev Biochem. 2005;74:355-83.

References from Mouse ortholog(s):

NALPs: a novel protein family involved in inflammation.
Tschopp J, Martinon F, Burns K
A newly discovered family of cytoplasmic proteins--the NALPs--has been implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cell's response to microbial infection. Like the structurally related apoptotic protease-activating factor-1 (APAF-1), which is responsible for the activation of caspase-9, the NALP1 protein forms a large, signal-induced multiprotein complex, the inflammasome, resulting in the activation of pro-inflammatory caspases. Nat Rev Mol Cell Biol. 2003 Feb;4(2):95-104.

NOD-LRR proteins: role in host-microbial interactions and inflammatory disease.
Inohara, Chamaillard, McDonald C, Nunez G
Nods are cytosolic proteins that contain a nucleotide-binding oligomerization domain (NOD). These proteins include key regulators of apoptosis and pathogen resistance in mammals and plants. A large number of Nods contain leucine-rich repeats (LRRs), hence referred to as NOD-LRR proteins. Genetic variation in several NOD-LRR proteins, including human Nod2, Cryopyrin, and CIITA, as well as mouse Naip5, is associated with inflammatory disease or increased susceptibility to microbial infections. Nod1, Nod2, Cryopyrin, and Ipaf have been implicated in protective immune responses against pathogens. Together with Toll-like receptors, Nod1 and Nod2 appear to play important roles in innate and acquired immunity as sensors of bacterial components. Specifically, Nod1 and Nod2 participate in the signaling events triggered by host recognition of specific motifs in bacterial peptidoglycan and, upon activation, induce the production of proinflammatory mediators. Naip5 is involved in host resistance to Legionella pneumophila through cell autonomous mechanisms, whereas CIITA plays a critical role in antigen presentation and development of antigen-specific T lymphocytes. Thus, NOD-LRR proteins appear to be involved in a diverse array of processes required for host immune reactions against pathogens. Annu Rev Biochem. 2005;74:355-83.

Structure & Sequence [+]

Pfam domains: (Pfam is a large collection of protein families.)

Source	Domain Name	Start	End
PFAM A	PAAD_DAPIN	5	88
PFAM A	NACHT	328	497
PFAM A	CARD	1379	1462

Protein sequence [+]

NLRP1 | Homo sapiens | 9606 | length:1473

MAGGAWGRLACYLEFLKKEELKEFQLLLANKAHSRSSSGETPAQPEKTSGMEVASYLVAQ
YGEQRAWDLALHTWEQMGLRSLCAQAQEGAGHSPSFPYSPSEPHLGSPSQPTSTAVLMPW
IHELPAGCTQGSERRVLRQLPDTSGRRWREISASLLYQALPSSPDHESPSQESPNAPTST
AVLGSWGSPPQPSLAPREQEAPGTQWPLDETSGIYYTEIREREREKSEKGRPPWAAVVGT
PPQAHTSLQPHHHPWEPSVRESLCSTWPWKNEDFNQKFTQLLLLQRPHPRSQDPLVKRSW
PDYVEENRGHLIEIRDLFGPGLDTQEPRIVILQGAAGIGKSTLARQVKEAWGRGQLYGDR
FQHVFYFSCRELAQSKVVSLAELIGKDGTATPAPIRQILSRPERLLFILDGVDEPGWVLQ
EPSSELCLHWSQPQPADALLGSLLGKTILPEASFLITARTTALQNLIPSLEQARWVEVLG
FSESSRKEYFYRYFTDERQAIRAFRLVKSNKELWALCLVPWVSWLACTCLMQQMKRKEKL
TLTSKTTTTLCLHYLAQALQAQPLGPQLRDLCSLAAEGIWQKKTLFSPDDLRKHGLDGAI
ISTFLKMGILQEHPIPLSYSFIHLCFQEFFAAMSYVLEDEKGRGKHSNCIIDLEKTLEAY
GIHGLFGASTTRFLLGLLSDEGEREMENIFHCRLSQGRNLMQWVPSLQLLLQPHSLESLH
CLYETRNKTFLTQVMAHFEEMGMCVETDMELLVCTFCIKFSRHVKKLQLIEGRQHRSTWS
PTMVVLFRWVPVTDAYWQILFSVLKVTRNLKELDLSGNSLSHSAVKSLCKTLRRPRCLLE
TLRLAGCGLTAEDCKDLAFGLRANQTLTELDLSFNVLTDAGAKHLCQRLRQPSCKLQRLQ
LVSCGLTSDCCQDLASVLSASPSLKELDLQQNNLDDVGVRLLCEGLRHPACKLIRLGLDQ
TTLSDEMRQELRALEQEKPQLLIFSRRKPSVMTPTEGLDTGEMSNSTSSLKRQRLGSERA
ASHVAQANLKLLDVSKIFPIAEIAEESSPEVVPVELLCVPSPASQGDLHTKPLGTDDDFW
GPTGPVATEVVDKEKNLYRVHFPVAGSYRWPNTGLCFVMREAVTVEIEFCVWDQFLGEIN
PQHSWMVAGPLLDIKAEPGAVEAVHLPHFVALQGGHVDTSLFQMAHFKEEGMLLEKPARV
ELHHIVLENPSFSPLGVLLKMIHNALRFIPVTSVVLLYHRVHPEEVTFHLYLIPSDCSIR
KAIDDLEMKFQFVRIHKPPPLTPLYMGCRYTVSGSGSGMLEILPKELELCYRSPGEDQLF
SEFYVGHLGSGIRLQVKDKKDETLVWEALVKPGDLMPATTLIPPARIAVPSPLDAPQLLH
FVDQYREQLIARVTSVEVVLDKLHGQVLSQEQYERVLAENTRPSQMRKLFSLSQSWDRKC
KDGLYQALKETHPHLIMELWEKGSKKGLLPLSS

BLAST at NCBI | WU-BLAST2 at EBI

Structure links:

Smartdomain prediction information: SM00382
Smartdomain prediction information: SM00368
Smartdomain prediction information: SM00367
Profile motif and domain profile information: PS50837
Profile motif and domain profile information: PS50209
Profile motif and domain profile information: PS50824
Interpro domain information: Q9C000
PFAM domain and domain family information: Q9C000
Protein 3D structures from PDB: 1PN5

Evolution [+]

Name	Relationship	Species
NLRP1	orthology	Chimpanzee
IPI00686327.3	orthology	Cow
NLRP1	orthology	Dog
T_rubripes_ENSTRUP00000000216	orthology	Fugu
T_rubripes_ENSTRUP00000002822	orthology	Fugu
T_rubripes_ENSTRUP00000004992	orthology	Fugu
T_rubripes_ENSTRUP00000005495	orthology	Fugu
T_rubripes_ENSTRUP00000006167	orthology	Fugu
T_rubripes_ENSTRUP00000011348	orthology	Fugu
T_rubripes_ENSTRUP00000014676	orthology	Fugu
T_rubripes_ENSTRUP00000020197	orthology	Fugu
T_rubripes_ENSTRUP00000033190	orthology	Fugu
NLRP1	orthology	Gorilla
NLRP1	orthology	Horse
O_latipes_ENSORLP00000001319	orthology	Medaka
O_latipes_ENSORLP00000003302	orthology	Medaka
NLRP1	orthology	Monodelphis
Nlrp1a	orthology	Mouse
Nlrp1c	orthology	Mouse
Nlrp1b	orthology	Mouse
NLRP1	orthology	Orangutan
LOC687766	orthology	Rat
T_nigroviridis_ENSTNIP00000008085	orthology	Tetraodon
T_nigroviridis_ENSTNIP00000008651	orthology	Tetraodon
T_nigroviridis_ENSTNIP00000009170	orthology	Tetraodon
X_tropicalis_ENSXETP00000019187	orthology	Xenopus
X_tropicalis_ENSXETP00000019213	orthology	Xenopus
zgc:136791	orthology	Zebrafish
Q5F3J4_CHICK	paralogy	Chicken
NLRP4	paralogy	Chimpanzee
NLRP2	paralogy	Chimpanzee
NLRP3	paralogy	Chimpanzee
NALP6	paralogy	Chimpanzee
NLRP14	paralogy	Chimpanzee
NALP12	paralogy	Chimpanzee
NLRP7	paralogy	Chimpanzee
NLRP9	paralogy	Chimpanzee
NLRP11	paralogy	Chimpanzee
NLRP13	paralogy	Chimpanzee
NLRP8	paralogy	Chimpanzee
NALP5	paralogy	Chimpanzee
NALP6	paralogy	Cow
NP_001095689.1	paralogy	Cow
IPI00690027.1	paralogy	Cow
NALP9_BOVIN	paralogy	Cow
NALP5_BOVIN	paralogy	Cow
NLRP13	paralogy	Cow
NLRP8	paralogy	Cow
NALP12	paralogy	Cow
NALP5	paralogy	Dog
NLRP8	paralogy	Dog
C_familiaris_ENSCAFP00000003655	paralogy	Dog
NLRP13	paralogy	Dog
C_familiaris_ENSCAFP00000003831	paralogy	Dog
NALP12	paralogy	Dog
NALP6	paralogy	Dog
NLRP14	paralogy	Dog
NLRP3	paralogy	Dog
C_familiaris_ENSCAFP00000026585	paralogy	Dog
NLRP2	paralogy	Gorilla
NLRP8	paralogy	Gorilla
Q68U61_9PRIM	paralogy	Gorilla
NLRP13	paralogy	Gorilla
NALP12	paralogy	Gorilla
NLRP7	paralogy	Gorilla
NLRP3	paralogy	Horse
E_caballus_ENSECAP00000014445	paralogy	Horse
NALP12	paralogy	Horse
E_caballus_ENSECAP00000017692	paralogy	Horse
NLRP4	paralogy	Horse
NLRP13	paralogy	Horse
NALP5	paralogy	Horse
NLRP14	paralogy	Horse
NLRP2	paralogy	Human
NLRP8	paralogy	Human
NLRP14	paralogy	Human
NLRP4	paralogy	Human
NALP6	paralogy	Human
NLRP11	paralogy	Human
NLRP7	paralogy	Human
NLRP9	paralogy	Human
NLRP13	paralogy	Human
NALP5	paralogy	Human
NALP12	paralogy	Human
NLRP3	paralogy	Human
A_carolinensis_ENSACAP00000017210	paralogy	Lyzard
NLRP11	paralogy	Macaca
NLRP14	paralogy	Macaca
NLRP8	paralogy	Macaca
M_mulatta_ENSMMUP00000016497	paralogy	Macaca
NLRP13	paralogy	Macaca
NLRP4	paralogy	Macaca
NLRP2	paralogy	Macaca
NLRP7	paralogy	Macaca
NLRP9	paralogy	Macaca
NALP6	paralogy	Macaca
NLRP3	paralogy	Macaca
NLRP8	paralogy	Monodelphis
NALP12	paralogy	Monodelphis
Nlrp5	paralogy	Mouse
Nlrp4f	paralogy	Mouse
Nlrp4b	paralogy	Mouse
Nlrp2	paralogy	Mouse
Nlrp4c	paralogy	Mouse
Nlrp4g	paralogy	Mouse
Nlrp4a	paralogy	Mouse
Nlrp9b	paralogy	Mouse
Nlrp4e	paralogy	Mouse
Nlrp3	paralogy	Mouse
AC171240.3-201	paralogy	Mouse
Nlrp14	paralogy	Mouse
Nlrp9c	paralogy	Mouse
Nlrp4d	paralogy	Mouse
Nlrp6	paralogy	Mouse
Nlrp9a	paralogy	Mouse
Nlrp12	paralogy	Mouse
NALP6	paralogy	Orangutan
P_pygmaeus_ENSPPYP00000004039	paralogy	Orangutan
P_pygmaeus_ENSPPYP00000004673	paralogy	Orangutan
NALP12	paralogy	Orangutan
NLRP7	paralogy	Orangutan
NLRP2	paralogy	Orangutan
NLRP9	paralogy	Orangutan
NLRP11	paralogy	Orangutan
NLRP4	paralogy	Orangutan
NLRP13	paralogy	Orangutan
NALP5	paralogy	Orangutan
NALP12	paralogy	Ornithorhynchus
O_anatinus_ENSOANP00000018607	paralogy	Ornithorhynchus
NLRP3	paralogy	Ornithorhynchus
NLRP14	paralogy	Rabbit
NLRP11	paralogy	Rabbit
NLRP3	paralogy	Rabbit
NALP5	paralogy	Rabbit
NALP12	paralogy	Rabbit
NLRP9	paralogy	Rabbit
NLRP8	paralogy	Rabbit
Nlrp3_predicted	paralogy	Rat
Nlrp6	paralogy	Rat
Nalp9b_predicted	paralogy	Rat
R_norvegicus_ENSRNOP00000030734	paralogy	Rat
RGD1560291_predicted	paralogy	Rat
RGD1559894_predicted	paralogy	Rat
Nlrp14	paralogy	Rat
RGD1563529_predicted	paralogy	Rat
Nalp12_predicted	paralogy	Rat
R_norvegicus_ENSRNOP00000048506	paralogy	Rat
NP_001099690.1	paralogy	Rat
NALP12	paralogy	Zebra finch

Gene Ontology [+]

GO id	Name	Ontology type	Evidence
GO:0006952	defense response	biological_proccess	IEA
GO:0042981	regulation of apoptosis	biological_proccess	IEA
GO:0051402	neuron apoptosis	biological_proccess	IDA
GO:0006917	induction of apoptosis	biological_proccess	NAS
GO:0006919	activation of caspase activity	biological_proccess	NAS
GO:0005515	protein binding	mollecular_function	IEA
GO:0000166	nucleotide binding	mollecular_function	IEA
GO:0017111	nucleoside-triphosphatase activity	mollecular_function	IEA
GO:0005524	ATP binding	mollecular_function	IDA
GO:0019899	enzyme binding	mollecular_function	IPI
GO:0008656	caspase activator activity	mollecular_function	NAS
GO:0019904	protein domain specific binding	mollecular_function	IPI
GO:0005622	intracellular	cell_component	IEA
GO:0005634	nucleus	cell_component	IEA
GO:0005737	cytoplasm	cell_component	IEA
GO:0005622	intracellular	cell_component	IC

Check GO Evidence Codes here

Information from other databases [+]

Gene related links:

Gene info from HGNC [?] :14374
Gene related info from GeneCards [?] : NLRP1
Ensembl genome browser [?] : ENSG00000091592
Expression info from Arrayexpress [?] : ENSG00000091592
Protein expression from Protein Atlas: [?] ENSG00000091592
Community gene edition from Wikigenes: [?] 22861

Protein related links:

Uniprot protein info: Q9C000
PIR protein info: Q9C000
Protein interactions from IntAct: Q9C000

Gene and disease information from OMIM: (For a full disease description table, click here.)

OMIM gene information: 606636
OMIM disease information: 606579 193200

Other links

entrezgene: 22861
refseq_dna: NM_033004
refseq_dna: NM_033006
refseq_dna: NM_014922
refseq_dna: NM_001033053
refseq_peptide: NP_127497
refseq_peptide: NP_127499
refseq_peptide: NP_055737
refseq_peptide: NP_001028225

Click on [?] for more information.