NLRP1 - NLR family pyrin domain containing 1 Gene

Also Known as NAC; JRRP; MSPC; AIADK; CARD7; CIDED; NALP1; SLEV1; DEFCAP; PP1044; VAMAS1; CLR17.1; DEFCAP-L/S

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22861

About NLRP1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:5,501,396-5,584,509 (from NCBI)

This gene has 70 transcripts (splice variants), 93 orthologues, 20 paralogues and is associated with 8 phenotypes. Broad expression in skin (RPKM 23.7), spleen (RPKM 21.9) and 21 other tissues.

Summary

This gene encodes a member of the Ced-4 family of Apoptosis proteins. Ced-family members contain a Caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with Caspase 2 and weakly with Caspase 9. Overexpression of this gene was demonstrated to induce Apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

NLRP1 Products (5)

mRNA	Protein	Name
NM_001033053.3	NP_001028225.1	NACHT, LRR and PYD domains-containing protein 1 isoform 5
NM_033007.4	NP_127500.1	NACHT, LRR and PYD domains-containing protein 1 isoform 4
NM_033004.4	NP_127497.1	NACHT, LRR and PYD domains-containing protein 1 isoform 1
NM_014922.5	NP_055737.1	NACHT, LRR and PYD domains-containing protein 1 isoform 2
NM_033006.4	NP_127499.1	NACHT, LRR and PYD domains-containing protein 1 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables ATP binding	IDA IDA: Inferred from direct assay	15212762	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	33243852	GOA
enables cysteine-type endopeptidase activator activity	IDA IDA: Inferred from direct assay	22665479	GOA
enables double-stranded DNA binding	IDA IDA: Inferred from direct assay	33243852	GOA
enables double-stranded RNA binding	IDA IDA: Inferred from direct assay	33243852	GOA
enables endopeptidase activity	IDA IDA: Inferred from direct assay	33731929	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	11076957	GOA
enables molecular condensate scaffold activity	IDA IDA: Inferred from direct assay	33420028	GOA
enables pattern recognition receptor activity	IDA IDA: Inferred from direct assay	33243852	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11472070	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	16575408	GOA
enables signaling adaptor activity	IDA IDA: Inferred from direct assay	22665479	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in NLRP1 inflammasome complex assembly	IDA IDA: Inferred from direct assay	22665479	GOA
involved in NLRP1 inflammasome complex assembly	IMP IMP: Inferred from mutant phenotype	27662089	GOA
involved in antiviral innate immune response	IDA IDA: Inferred from direct assay	33093214	GOA
involved in cellular response to UV-B	IMP IMP: Inferred from mutant phenotype	30096351	GOA
involved in defense response to virus	IDA IDA: Inferred from direct assay	33093214	GOA
involved in neuron apoptotic process	IDA IDA: Inferred from direct assay	15212762	GOA
involved in positive regulation of inflammatory response	IDA IDA: Inferred from direct assay	12191486	GOA
involved in positive regulation of interleukin-1 beta production	IDA IDA: Inferred from direct assay	7642516	GOA
involved in protein homooligomerization	IDA IDA: Inferred from direct assay	33420028	GOA
involved in pyroptotic inflammatory response	IDA IDA: Inferred from direct assay	33093214	GOA
involved in regulation of inflammatory response	IDA IDA: Inferred from direct assay	15212762	GOA
involved in self proteolysis	IDA IDA: Inferred from direct assay	33093214	GOA
involved in signal transduction	IMP IMP: Inferred from mutant phenotype	30096351	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of NLRP1 inflammasome complex	IDA IDA: Inferred from direct assay	12191486	GOA
part of NLRP1 inflammasome complex	IPI IPI: Inferred from physical interaction	17349957	GOA
part of canonical inflammasome complex	IDA IDA: Inferred from direct assay	33731929	GOA
is active in cytosol	IDA IDA: Inferred from direct assay	17164409	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17164409	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NLRP1 Protein Structure

PYRIN

NACHT

LRR_6

FIIND

CARD

0
300
600
900
1200
1473 a.a.

Protein Preferred Names	Protein Names
NACHT, LRR and PYD domains-containing protein 1	NACHT, LRR and PYD containing protein 1 NACHT, leucine rich repeat and PYD (pyrin domain) containing 1 NACHT, leucine rich repeat and PYD containing 1 caspase recruitment domain protein 7 caspase recruitment domain-containing protein 7 death effector filament-forming Ced-4-like apoptosis protein nucleotide-binding domain and caspase recruitment domain nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1

NLRP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	NLRP1	Q9C000	BCL2L1	Homo sapiens	Q07817-1	Pull Down	19223583
Intra	NLRP1	Q9C000	PYCARD	Homo sapiens	Q9ULZ3	Anti Bait CoIP	17418785
Intra	NLRP1	Q9C000	PYCARD	Homo sapiens	Q9ULZ3	Anti Tag CoIP	17418785
Intra	NLRP1	Q9C000	BCL2	Homo sapiens	P10415	Anti Bait CoIP	17418785
Intra	NLRP1	Q9C000	BCL2	Homo sapiens	P10415	Confocal	17418785
Intra	NLRP1	Q9C000	BCL2	Homo sapiens	P10415	Anti Tag CoIP	17418785
Intra	NLRP1	Q9C000	BCL2L1	Homo sapiens	Q07817	Anti Bait CoIP	17418785
Intra	NLRP1	Q9C000	BCL2L1	Homo sapiens	Q07817	Anti Tag CoIP	17418785

Cross: Cross-species interaction Intra: Intraspecies interaction

NLRP1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P89570	NALP1 Antibody (YA8914)	WB, ICC/IF, IF-Tissue, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
Renal Infectious Disease
Keratopathy
Anthrax Disease	Anthrax Ragpicker'S Disease Black Baine Malignant Edema Malignant Pustule Siberian Plague Wool Sorter'S Disease Gas Gangrene Cutaneous Anthrax Anthrax Infection Splenic Fever
Autosomal Recessive Disease	Autosomal Recessive Disorder
Cinca Syndrome	CINCA Nomid Cryopyrin-Associated Periodic Syndrome 3 Chronic Neurologic Cutaneous And Articular Syndrome Multisystem Inflammatory Disease, Neonatal-Onset Caps3 Chronic Infantile Neurological Cutaneous Articular Syndrome Infantile-Onset Multisystem Inflammatory Disease Iomid Syndrome Neonatal-Onset Multisystem Inflammatory Disease Nomid Syndrome Prieur-Griscelli Syndrome Neonatal Onset Multisystem Inflammatory Disease Chronic Infantile Neurological, Cutaneous And Articular Syndrome Iomid Infantile Onset Multisystem Inflammatory Disease Prieur Griscelli Syndrome Chronic Infantile Neurological Cutaneous And Articular Syndrome Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome Chronic Infantile Neurologic Cutaneous And Articular Syndrome Chronic Infantile Neurological, Cutaneous, And Articular Syndrome Cryopyrin-Associated Periodic Syndromes
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Lupus Erythematosus	Lupus Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus, Systemic Subacute Cutaneous Lupus Le - [Lupus Erythematosus]
Atrophoderma Vermiculata	Atrophoderma Vermiculatum Folliculitis Ulerythematosa Reticulata Atrophodermia Vermiculata Honeycomb Atrophy Atrophodermia Reticulata Symmetrica Faciei AVA Atrophodermia Reticulata Folliculitis Ulerythematosa Folliculitis Ulerythematosa Reticulate Burnett Schwartz Berberian Syndrome
Mevalonic Aciduria	Mevalonate Kinase Deficiency Mevalonicaciduria Hyperimmunoglobulin D With Periodic Fever MEVA Complete Mevalonate Kinase Deficiency Mva Hyperimmunoglobulinemia D Hyper Igd Syndrome Periodic Fever, Dutch Type Mkd Aciduria, Mevalonic Deficiency Of Mevalonate Kinase
Muckle-Wells Syndrome	MWS Urticaria-Deafness-Amyloidosis Syndrome Uda Syndrome Neutrophilic Urticaria Urticaria, Deafness And Amyloidosis Cryopyrin-Associated Periodic Syndrome 2 Caps2 Muckle Wells Syndrome Urticaria-Deafness-Amyloidosis Cryopyrin-Associated Periodic Syndromes
Congenital Toxoplasmosis	Toxoplasmosis, Congenital Mother-To-Child Transmission Of Toxoplasmosis Toxoplasma Embryofetopathy Toxoplasma Embryopathy Toxoplasmosis - Congen. Toxoplasmosis Congenital
Adrenal Cortical Hypofunction	Adrenal Cortical Insufficiency Corticoadrenal Insufficiency
Autoimmune Disease 1	Autoimmune Disease, Susceptibility To, 1 AIS1 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2 Vamas2 Autoimmune Disease Susceptibility Locus, Chromosome 1p-Related Autoimmune Disease Susceptibility 1 Autoimmune Disease Susceptibility Locus Chromosome 1p-Related Vitiligo-Associated Multiple Autoimmune Disease Type 2 Autoimmune Disease, Susceptibility To, Type 1 Autoimmune Diseases
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Familial Cold Autoinflammatory Syndrome	Familial Cold Urticaria Fcas Familial Polymorphous Cold Eruption Fcu Cold Hypersensitivity
Blau Syndrome	Arthrocutaneouveal Granulomatosis Jabs Syndrome BLAUS Sarcoidosis, Early-Onset Acug Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial Eos Granulomatosis, Familial Juvenile Systemic Granulomatosis, Familial, Blau Type Familial Juvenile Systemic Granulomatosis Early Onset Sarcoidosis Synovitis Granulomatous With Uveitis And Cranial Neuropathies Early-Onset Sarcoidosis Familial Granulomatosis, Blau Type Pediatric Granulomatous Arthritis Familial Granulomatosis Blau Type Familial Granulomatous Inflammatory Arthritis Dermatitis And Uveitis Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies
Coccidiosis	Intestinal Coccidiosis Enteric Coccidiosis
Behcet Syndrome	Behcet Disease Behcet'S Syndrome Behcet'S Disease Behçet Disease Bd Adamantiades-Behcet Disease Triple Symptom Complex Behet'S Syndrome Bd Syndrome Behçet Syndrome Behçet'S Disease Behçet'S Syndrome Behcet Triple Symptom Complex Malignant Aphthosis Old Silk Route Disease Adamantiades-Behçet Disease
Autoinflammation With Arthritis And Dyskeratosis	AIADK Hereditary Autoinflammatory Diseases
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome MSPC Corneal Intraepithelial Dyskeratosis And Ectodermal Dysplasia Corneal Intraepithelial Dyskeratosis And Ectodermal Dysplasia, Formerly Cided, Formerly Cided Dyskeratosis , Corneal Intraepithelial And Ectodermal Dysplasia
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo VAMAS1 Slev1 Vtlg Systemic Lupus Erythematosus, Vitiligo-Related Vitiligo-Associated Multiple Autoimmune Disease 1 Systemic Lupus Erythematosus Vitiligo-Related
Toxoplasmosis	Disseminated Toxoplasmosis Multisystemic Disseminated Toxoplasmosis Acquired Toxoplasmosis Toxoplasmosis Disease Or Disorder Infection By Toxoplasma Gondii Toxoplasmal Toxoplasma
Immunodeficiency 27a	IMD27A Autosomal Recessive Ifngr1 Deficiency Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency Autosomal Recessive Msmd Due To Partial Ifngammar1 Deficiency Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive Ifngr1 Deficiency, Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis, Ar Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency Msmd Due To Complete Ifngammar1 Deficiency Msmd Due To Complete Interferon Gamma Receptor 1 Deficiency Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 1 Deficiency Familial Disseminated Atypical Mycobacterial Infection Interferon Gamma, Receptor 1, Deficiency Immunodeficiency, Type 27a, Mycobacteriosis, Ar Mycobacterial Disease, Mendelian Susceptibility To
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Autoimmune Disease	Autoimmune Diseases Autoimmune Hypersensitivity Disease Hypersensitivity Reaction Type Ii Disease Type Ii Hypersensitivity Reaction Disease
Familial Mediterranean Fever	FMF Benign Paroxysmal Peritonitis Periodic Disease Periodic Fever Syndrome Recurrent Polyserositis Familial Paroxysmal Polyserositis Periodic Fever Familial Mediterranean Fever, Autosomal Recessive Familial Mediterranean Fever, Ar Polyserositis, Recurrent Polyserositis, Familial Paroxysmal Periodic Peritonitis Mef Reimann Periodic Disease Siegal-Cattan-Mamou Disease Wolff Periodic Disease Benign Recurrent Polyserositis Mediterranean Fever, Familial ARFMF Autosomal Recessive Familial Mediterranean Fever Fever, Mediterranean, Familial, Autosomal Recessive Hereditary Autoinflammatory Diseases Fmf - [Familial Mediterranean Fever] Periodic Polyserositis Periodic Familial Polyserositis Periodic Familial Peritonitis Paroxysmal Polyserositis Hereditary Amyloid Nephropathy Familial Recurrent Polyserositis Familial Non-Neuropathic Amyloidosis Armenian Disease Riemann Periodic Disease Siegal Cattan Mamou Disease
Respiratory Papillomatosis, Juvenile Recurrent, Congenital	JRRP
Vaccinia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-127090	Muramyl dipeptide	Agonist	99.07%	Phase 3

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-156798	ADS032	Inhibitor	99.89%	Unkown
HY-178898	7-Oxogedunin	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NLRP1	RGD	RGD:1310963
Mus musculus	NLRP1	MGD	MGI:2684861
Canis familiaris	NLRP1	VGNC	VGNC:43845
Bos taurus	NLRP1	VGNC	VGNC:32115
Macaca mulatta	NLRP1	VGNC	VGNC:99189
Others	NLRP1	NCBI