Gene table of NLRP1 : NLR family pyrin domain containing 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NLRP1	OMIM link	Number of associated genes	genes
615225	CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NLRP1
606579	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NLRP1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
NOD-like receptor signaling pathway	hsa04621	6.88

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
The NLRP1 inflammasome	R-HSA-844455	11.4
Innate Immune System	R-HSA-168249	3.17
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways	R-HSA-168643	7.31
Immune System	R-HSA-168256	2.37
Inflammasomes	R-HSA-622312	8.89

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
molecular function regulator	GO:0098772	2.51
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
cysteine-type endopeptidase regulator activity involved in apoptotic process	GO:0043028	6.02
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
enzyme regulator activity	GO:0030234	2.85
peptidase regulator activity	GO:0061134	4.37
small molecule binding	GO:0036094	1.89
purine ribonucleotide binding	GO:0032555	2.2
protein domain specific binding	GO:0019904	3.32
cysteine-type endopeptidase activator activity involved in apoptotic process	GO:0008656	6.91
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
peptidase activator activity	GO:0016504	6.13
peptidase activator activity involved in apoptotic process	GO:0016505	6.74
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
enzyme activator activity	GO:0008047	3.56