NLRP1 - NLR family pyrin domain containing 1 Gene

Homo sapiens

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

Gene ID: 22861 | Gene type: protein coding

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

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

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

Cat. No.	Product Name	Effect	Purity	Phase
HY-127090	Muramyl dipeptide	Agonist	≥98.0%	Phase 3

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