MultifacetedProtDB - Bologna Biocomputing Group

Summary of Q9C000

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

Protein family
Protein sequence
Protein function

Catalytic activity

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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;

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Publications

Structure

GO term

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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

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InterPro / Pfam

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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

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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

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Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

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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

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Disease

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Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
autoinflammation with arthritis and dyskeratosis	MONDO:0060457	-	-	OMIM:617388
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
vitiligo-associated multiple autoimmune disease susceptibility 1	MONDO:0011684	-	-	OMIM:606579	Orphanet:247871

Showing 1 to 5 of 5 entries