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HUMAN:NALP1

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) NLRP1 (synonyms: CARD7, DEFCAP, KIAA0926, NAC, NALP1)
Protein Name(s) 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

External Links
UniProt Q9C000
EMBL AF298548
AF310105
AF229059
AF229060
AF229061
AF229062
AB023143
AK026393
AK026398
AC055839
BC051787
AL117470
CCDS CCDS32537.1
CCDS42244.1
CCDS42245.1
CCDS42246.1
CCDS58508.1
PIR T17255
RefSeq NP_001028225.1
NP_055737.1
NP_127497.1
NP_127499.1
NP_127500.1
UniGene Hs.652273
PDB 1PN5
3KAT
4IFP
4IM6
PDBsum 1PN5
3KAT
4IFP
4IM6
DisProt DP00554
ProteinModelPortal Q9C000
SMR Q9C000
BioGrid 116529
DIP DIP-38407N
IntAct Q9C000
MINT MINT-150191
BindingDB Q9C000
ChEMBL CHEMBL1741214
GuidetoPHARMACOLOGY 1768
MEROPS S79.A03
PhosphoSite Q9C000
DMDM 17380146
PaxDb Q9C000
PRIDE Q9C000
DNASU 22861
Ensembl ENST00000262467
ENST00000269280
ENST00000345221
ENST00000354411
ENST00000544378
ENST00000572272
ENST00000577119
ENST00000613500
ENST00000617618
ENST00000619223
GeneID 22861
KEGG hsa:22861
UCSC uc002gcg.1
uc002gch.4
uc002gci.3
uc002gcj.3
uc002gcl.3
CTD 22861
GeneCards GC17M005407
HGNC HGNC:14374
HPA CAB009189
MIM 193200
606579
606636
615225
neXtProt NX_Q9C000
Orphanet 352662
3435
247871
PharmGKB PA162397797
eggNOG NOG146295
GeneTree ENSGT00770000120466
HOGENOM HOG000230509
HOVERGEN HBG052573
InParanoid Q9C000
KO K12798
OMA HPHLIME
OrthoDB EOG7P5T07
PhylomeDB Q9C000
TreeFam TF340267
Reactome REACT_75927
EvolutionaryTrace Q9C000
GeneWiki NLRP1
GenomeRNAi 22861
NextBio 35533902
PRO PR:Q9C000
Proteomes UP000005640
Bgee Q9C000
CleanEx HS_NLRP1
ExpressionAtlas Q9C000
Genevestigator Q9C000
GO GO:0005829
GO:0005622
GO:0072558
GO:0005634
GO:0005524
GO:0008656
GO:0019899
GO:0019904
GO:0006919
GO:0006915
GO:0042742
GO:0045087
GO:0051402
GO:0035872
GO:0050718
GO:0050727
GO:0032495
Gene3D 1.10.533.10
InterPro IPR001315
IPR004020
IPR011029
IPR025307
IPR001611
IPR007111
IPR027417
Pfam PF00619
PF13553
PF02758
SUPFAM SSF47986
SSF52540
PROSITE PS50209
PS50824
PS51450
PS50837

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

involved_in

GO:1904784

NLRP1 inflammasome complex assembly

PMID:27662089[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0050727

regulation of inflammatory response

PMID:15212762[2]

ECO:0000305

curator inference used in manual assertion

GO:0006919

P

Seeded From UniProt

complete

involved_in

GO:0050718

positive regulation of interleukin-1 beta secretion

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q2LKU9

P

Seeded From UniProt

complete

involved_in

GO:0042742

defense response to bacterium

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q2LKU9

P

Seeded From UniProt

complete

involved_in

GO:0032495

response to muramyl dipeptide

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q2LKU9

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:17164409[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0051402

neuron apoptotic process

PMID:15212762[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

PMID:15212762[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

PMID:15212762[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0072558

NLRP1 inflammasome complex

PMID:12191486[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0019904

protein domain specific binding

PMID:16575408[5]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:O95361

F

Seeded From UniProt

complete

enables

GO:0019899

enzyme binding

PMID:11076957[6]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P42575

F

Seeded From UniProt

complete

enables

GO:0008656

cysteine-type endopeptidase activator activity involved in apoptotic process

PMID:11076957[6]

ECO:0000303

author statement without traceable support used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

PMID:11076957[6]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006915

apoptotic process

PMID:11076957[6]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0061702

inflammasome complex

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002931183
UniProtKB:Q9C000
UniProtKB:Q9Y2G2

C

Seeded From UniProt

complete

involved_in

GO:0050718

positive regulation of interleukin-1 beta secretion

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2684861
PANTHER:PTN002931183
UniProtKB:Q9Y2G2

P

Seeded From UniProt

complete

involved_in

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002931183
UniProtKB:Q9C000
UniProtKB:Q9Y2G2

P

Seeded From UniProt

complete

involved_in

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002931183
UniProtKB:Q9C000
UniProtKB:Q9Y2G2

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0006954

inflammatory response

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR033516

P

Seeded From UniProt

complete

involved_in

GO:0042981

regulation of apoptotic process

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001315

P

Seeded From UniProt

complete

involved_in

GO:0045087

innate immune response

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR033516

P

Seeded From UniProt

complete

part_of

GO:0072558

NLRP1 inflammasome complex

PMID:20303873[8]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

Reactome:R-HSA-879222
Reactome:R-HSA-879201
Reactome:R-HSA-844447
Reactome:R-HSA-844438

ECO:0000304

author statement supported by traceable reference used in manual assertion




C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963
UniProtKB-SubCell:SL-0086

C

Seeded From UniProt

complete

involved_in

GO:0006954

inflammatory response

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0395

P

Seeded From UniProt

complete

enables

GO:0000166

nucleotide binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0547

F

Seeded From UniProt

complete

involved_in

GO:0016032

viral process

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0945

P

Seeded From UniProt

complete

part_of

GO:0061702

inflammasome complex

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1271
UniProtKB-SubCell:SL-0488

C

Seeded From UniProt

complete

involved_in

GO:0002376

immune system process

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0391

P

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0067

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

involved_in

GO:0045087

innate immune response

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0399

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0091

C

Seeded From UniProt

complete

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

PMID:24478317[9]

ECO:0000314

P

NLRP1 is a nod like receptor that mediates the effects of LeTx for macrophage viability

complete
CACAO 9635

Notes

References

See Help:References for how to manage references in GONUTS.

  1. Zhong, FL et al. (2016) Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. Cell 167 187-202.e17 PubMed GONUTS page
  2. 2.0 2.1 2.2 2.3 Liu, F et al. (2004) Expression of NALP1 in cerebellar granule neurons stimulates apoptosis. Cell. Signal. 16 1013-21 PubMed GONUTS page
  3. Kummer, JA et al. (2007) Inflammasome components NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response. J. Histochem. Cytochem. 55 443-52 PubMed GONUTS page
  4. Martinon, F et al. (2002) The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol. Cell 10 417-26 PubMed GONUTS page
  5. Munding, C et al. (2006) The estrogen-responsive B box protein: a novel enhancer of interleukin-1beta secretion. Cell Death Differ. 13 1938-49 PubMed GONUTS page
  6. 6.0 6.1 6.2 6.3 Hlaing, T et al. (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 9230-8 PubMed GONUTS page
  7. 7.0 7.1 7.2 7.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  8. Schroder, K & Tschopp, J (2010) The inflammasomes. Cell 140 821-32 PubMed GONUTS page
  9. Rivera, J et al. (2014) Platelet-activating factor contributes to Bacillus anthracis lethal toxin-associated damage. J. Biol. Chem. 289 7131-41 PubMed GONUTS page