MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
3.4.-.-	Hydrolases; Acting on peptide bonds (peptidases); ;
3.6.4.-	Hydrolases; Acting on acid anhydrides; Acting on acid anhydrides to facilitate cellular and subcellular movement;

Structure

PDB	Resolution (Å)	PDB name
1PN5		NMR structure of the NALP1 Pyrin domain (PYD)
3KAT	3.1	Crystal Structure of the CARD domain of the human NLRP1 protein, Northeast Structural Genomics Consortium Target HR3486E
4IFP	1.9948	X-ray Crystal Structure of Human NLRP1 CARD Domain
4IM6	1.65	LRR domain from human NLRP1
5Y3S	2.451	Crystal structure of human NLRP1 leucine rich repeat domain
6K7V	3.7	Structure of NLRP1 CARD filament
6X6C	2.9	Cryo-EM structure of NLRP1-DPP9-VbP complex
6XKK	3.72	Cryo-EM structure of the NLRP1-CARD filament

GO term

GO ontology	GO term	GO description
Biological Process	GO:1904784	NLRP1 inflammasome complex assembly
Biological Process	GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
Biological Process	GO:0140374	antiviral innate immune response
Biological Process	GO:0006915	apoptotic process
Biological Process	GO:0071493	cellular response to UV-B
Biological Process	GO:0042742	defense response to bacterium
Biological Process	GO:0051607	defense response to virus
Biological Process	GO:0006954	inflammatory response
Biological Process	GO:0051402	neuron apoptotic process
Biological Process	GO:0002221	pattern recognition receptor signaling pathway
Biological Process	GO:0050729	positive regulation of inflammatory response
Biological Process	GO:0032731	positive regulation of interleukin-1 beta production
Biological Process	GO:0051260	protein homooligomerization
Biological Process	GO:0070269	pyroptosis
Biological Process	GO:0042981	regulation of apoptotic process
Biological Process	GO:0050727	regulation of inflammatory response
Biological Process	GO:0032495	response to muramyl dipeptide
Biological Process	GO:0097264	self proteolysis
Biological Process	GO:0031098	stress-activated protein kinase signaling cascade
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0016887	ATP hydrolysis activity
Molecular Function	GO:0140608	cysteine-type endopeptidase activator activity
Molecular Function	GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process
Molecular Function	GO:0003690	double-stranded DNA binding
Molecular Function	GO:0003725	double-stranded RNA binding
Molecular Function	GO:0004175	endopeptidase activity
Molecular Function	GO:0019899	enzyme binding
Molecular Function	GO:0140693	molecular condensate scaffold activity
Molecular Function	GO:0140677	molecular function activator activity
Molecular Function	GO:0038187	pattern recognition receptor activity
Molecular Function	GO:0008233	peptidase activity
Molecular Function	GO:0019904	protein domain specific binding
Molecular Function	GO:0043621	protein self-association
Molecular Function	GO:0035591	signaling adaptor activity
Molecular Function	GO:0030546	signaling receptor activator activity
Cellular Component	GO:0072558	NLRP1 inflammasome complex
Cellular Component	GO:0061702	canonical inflammasome complex
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005730	nucleolus
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus

InterPro / Pfam

InterPro	InterPro name
IPR001315	CARD domain
IPR001611	Leucine-rich repeat
IPR004020	DAPIN domain
IPR007111	NACHT nucleoside triphosphatase
IPR011029	Death-like domain superfamily
IPR025307	FIIND domain
IPR027417	P-loop containing nucleoside triphosphate hydrolase
IPR032675	Leucine-rich repeat domain superfamily
IPR033516	CARD8/ASC/NALP1, CARD domain
IPR041075	NOD2, winged helix domain
IPR041267	NACHT, LRR and PYD domains-containing protein, helical domain HD2

Pfam	Pfam name
PF00619	Caspase recruitment domain
PF02758	PAAD/DAPIN/Pyrin domain
PF05729	NACHT domain
PF13516	Leucine Rich repeat
PF13553	Function to find
PF17776	NLRC4 helical domain HD2
PF17779	NOD2 winged helix domain

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-844455	The NLRP1 inflammasome	Leaf	R-HSA-168256	Immune System

Subcellular location

Location	ECO term	Pubmed
Cytoplasm	ECO:0000269	PubMed:17164409
Cytoplasm, cytosol	ECO:0000269	PubMed:17418785
Inflammasome	ECO:0000269	PubMed:12191486
Inflammasome	ECO:0000269	PubMed:22665479
Inflammasome	ECO:0000269	PubMed:30291141
Inflammasome	ECO:0000269	PubMed:33420028
Inflammasome	ECO:0000269	PubMed:33420033
Nucleus	ECO:0000269	PubMed:17164409
Nucleus	ECO:0000269	PubMed:35618833

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000343	Long philtrum
HP:0000470	Short neck
HP:0000505	Visual impairment
HP:0000554	Uveitis
HP:0000613	Photophobia
HP:0000958	Dry skin
HP:0000968	Ectodermal dysplasia
HP:0000972	Palmoplantar hyperkeratosis
HP:0000982	Palmoplantar keratoderma
HP:0001036	Parakeratosis
HP:0001045	Vitiligo
HP:0001097	Keratoconjunctivitis sicca
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001609	Hoarse voice
HP:0001744	Splenomegaly
HP:0001890	Autoimmune hemolytic anemia
HP:0001954	Recurrent fever
HP:0002240	Hepatomegaly
HP:0002257	Chronic rhinitis
HP:0002860	Squamous cell carcinoma
HP:0003237	Increased circulating IgG level
HP:0003261	Increased circulating IgA level
HP:0003493	Antinuclear antibody positivity
HP:0003593	Infantile onset
HP:0005764	Polyarticular arthritis
HP:0006094	Finger joint hypermobility
HP:0007502	Follicular hyperkeratosis
HP:0008404	Nail dystrophy
HP:0010982	Polygenic inheritance
HP:0011034	Amyloidosis
HP:0011227	Elevated circulating C-reactive protein concentration
HP:0011463	Childhood onset
HP:0011496	Corneal neovascularization
HP:0011859	Punctate keratitis
HP:0025092	Epidermal acanthosis
HP:0030731	Carcinoma
HP:0032061	Hypereosinophilia
HP:0032107	Limbal stem cell deficiency
HP:0032152	Keratosis pilaris
HP:0032347	Cutaneous macular amyloidosis
HP:0033001	Laryngeal papilloma
HP:0100646	Thyroiditis
HP:0100837	Atrophodermia vermiculata

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Medium	Enhanced
breast	glandular cells	Low	Enhanced
breast	myoepithelial cells	Low	Enhanced
caudate	neuronal cells	Low	Enhanced
cerebral cortex	endothelial cells	Low	Enhanced
cerebral cortex	neuronal cells	High	Enhanced
cerebral cortex	neuropil	Low	Enhanced
colon	mucosal lymphoid cells	Medium	Enhanced
duodenum	endocrine cells	Low	Enhanced
duodenum	enterocytes	Low	Enhanced
endometrium 1	glandular cells	Low	Enhanced
endometrium 2	glandular cells	Low	Enhanced
epididymis	glandular cells	Low	Enhanced
esophagus	squamous epithelial cells	Low	Enhanced
fallopian tube	glandular cells	Low	Enhanced
gallbladder	glandular cells	Low	Enhanced
hippocampus	neuronal cells	High	Enhanced
kidney	cells in tubules	Medium	Enhanced
liver	cholangiocytes	Low	Enhanced
liver	hepatocytes	Low	Enhanced
lung	macrophages	Medium	Enhanced
lymph node	non-germinal center cells	Medium	Enhanced
nasopharynx	respiratory epithelial cells	Low	Enhanced
oral mucosa	squamous epithelial cells	Medium	Enhanced
parathyroid gland	glandular cells	Low	Enhanced
placenta	trophoblastic cells	Medium	Enhanced
prostate	glandular cells	Low	Enhanced
rectum	enterocytes	Low	Enhanced
rectum	mucosal lymphoid cells	Medium	Enhanced
salivary gland	glandular cells	Low	Enhanced
seminal vesicle	glandular cells	Low	Enhanced
skeletal muscle	myocytes	Low	Enhanced
skin 1	fibrohistiocytic cells	Low	Enhanced
skin 1	melanocytes	High	Enhanced
skin 2	cells in basal layer	Low	Enhanced
skin 2	fibrohistiocytic cells	Low	Enhanced
skin 2	melanocytes	Medium	Enhanced
soft tissue 1	fibroblasts	Low	Enhanced
soft tissue 1	peripheral nerve	Low	Enhanced
soft tissue 2	fibroblasts	Low	Enhanced
spleen	cells in red pulp	Medium	Enhanced
stomach 1	glandular cells	Medium	Enhanced
stomach 2	glandular cells	Medium	Enhanced
testis	Leydig cells	Low	Enhanced
testis	cells in seminiferous ducts	Low	Enhanced
tonsil	non-germinal center cells	Medium	Enhanced
tonsil	squamous epithelial cells	Low	Enhanced
urinary bladder	urothelial cells	Low	Enhanced
vagina	squamous epithelial cells	Low	Enhanced

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
vitiligo-associated multiple autoimmune disease susceptibility 1	MONDO:0011684	-	-	OMIM:606579	Orphanet:247871
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	MONDO:0014089	Q82	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:615225	Orphanet:352662
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	MONDO:0014089	Q82	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:616964	Orphanet:352662
respiratory papillomatosis- juvenile recurrent- congenital	MONDO:0032925	-	-	OMIM:618803
autoinflammation with arthritis and dyskeratosis	MONDO:0060457	-	-	OMIM:617388

Summary of Q9C000

Gene: NLRP1, CARD7, DEFCAP, KIAA0926, NAC, NALP1
Protein: NACHT, LRR and PYD domains-containing protein 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q9C000

Gene: NLRP1, CARD7, DEFCAP, KIAA0926, NAC, NALP1 Protein: NACHT, LRR and PYD domains-containing protein 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: NLRP1, CARD7, DEFCAP, KIAA0926, NAC, NALP1
Protein: NACHT, LRR and PYD domains-containing protein 1