InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NLRP1

Summary

InnateDB Protein

IDBP-21844.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NLRP1

Protein Name

NLR family, pyrin domain containing 1

Synonyms

CARD7; CIDED; CLR17.1; DEFCAP; DEFCAP-L/S; NAC; NALP1; PP1044; SLEV1; VAMAS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000324366

InnateDB Gene

IDBG-21836 (NLRP1)

Protein Structure

UniProt Annotation

Function

Able to form cytoplasmic structures termed death effector filaments. Enhances APAF1 and cytochrome c-dependent activation of pro-caspase-9 and consecutive apoptosis. Stimulates apoptosis through activation of caspase-3. Involved in activation of caspase-1 and caspase-5 as part of the NALP1 inflammasome complex which leads to processing and release of IL1B and IL18. Binds ATP. {ECO:0000269PubMed:12191486, ECO:0000269PubMed:15212762, ECO:0000269PubMed:17349957}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:17164409}. Nucleus {ECO:0000269PubMed:17164409}.

Disease Associations

Vitiligo (VTLG) [MIM:193200]: A pigmentary disorder of the skin and mucous membranes. It is characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. Vitiligo is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases. {ECO:0000269PubMed:17377159}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Vitiligo-associated multiple autoimmune disease 1 (VAMAS1) [MIM:606579]: A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED) [MIM:615225]: A disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, and dystrophic nails. {ECO:0000269PubMed:23349227}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Isoform 1 and isoform 2 are expressed in peripheral blood leukocytes and chronic myelogenous leukemia cell line K-562, followed by thymus, spleen and heart. Also detected in brain, lung, placenta, small intestine, colon, kidney, liver, muscle, testis and epithelial cells. Absent from hematopoietic progenitor cells but expressed upon differentiation of cells into granulocytes and, to a lesser extent, monocytes. In peripheral blood cells, highest levels are found in T-lymphocytes, granulocytes and monocytes. Expression is significantly increased in bone marrow blast cells of some acute leukemia patients but not in solid tumors. Expressed in adult cornea as well as adult and 24-week fetal tissues, including choroid, sclera, cornea, optic nerve, and adult retina and fetal retina/retinal pigment epithelium. In addition, expressed in corneal epithelia obtained during photorefractive keratectomy. {ECO:0000269PubMed:15285719, ECO:0000269PubMed:17164409, ECO:0000269PubMed:23349227}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	23 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process
GO:0019899	enzyme binding
GO:0019904	protein domain specific binding

Biological Process

GO:0006915	apoptotic process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0006952	defense response
GO:0032495	response to muramyl dipeptide
GO:0035872	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
GO:0042742	defense response to bacterium
GO:0042981	regulation of apoptotic process
GO:0045087	innate immune response (InnateDB)
GO:0050718	positive regulation of interleukin-1 beta secretion
GO:0050727	regulation of inflammatory response
GO:0051402	neuron apoptotic process

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005829	cytosol
GO:0072558	NLRP1 inflammasome complex

Protein Structure and Domains

PDB ID

InterPro

IPR001315 CARD domain
IPR001611 Leucine-rich repeat
IPR003590 Leucine-rich repeat, ribonuclease inhibitor subtype
IPR004020 DAPIN domain
IPR007111 NACHT nucleoside triphosphatase
IPR011029 Death-like domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00619
PF00560
PF13504
PF13855
PF02758

PRINTS

PIRSF

SMART

SM00114
SM00368

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9C000