NLRP1 (NLR family pyrin domain containing 1)

2006-10-01 Affiliation

Identity

HGNC

NLRP1

LOCATION

17p13.2

LOCUSID

22861

ALIAS

AIADK,CARD7,CIDED,CLR17.1,DEFCAP,DEFCAP-L/S,JRRP,MSPC,NAC,NALP1,PP1044,SLEV1,VAMAS1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 22861
MIM: 606636
HGNC: 14374
Ensembl: ENSG00000091592

Variants:

dbSNP: 22861
ClinVar: 22861
TCGA: ENSG00000091592
COSMIC: NLRP1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000091592	ENST00000262467	Q9C000
ENSG00000091592	ENST00000269280	Q9C000
ENSG00000091592	ENST00000345221	Q9C000
ENSG00000091592	ENST00000354411	Q9C000
ENSG00000091592	ENST00000544378	Q9C000
ENSG00000091592	ENST00000571451	Q9C000
ENSG00000091592	ENST00000572272	Q9C000
ENSG00000091592	ENST00000576905	I3L0S2
ENSG00000091592	ENST00000577119	Q9C000
ENSG00000091592	ENST00000613500	Q9C000
ENSG00000091592	ENST00000617618	Q9C000
ENSG00000091592	ENST00000619223	Q9C000

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
NOD-like receptor signaling pathway	KEGG	ko04621
NOD-like receptor signaling pathway	KEGG	hsa04621
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways	REACTOME	R-HSA-168643
Inflammasomes	REACTOME	R-HSA-622312
The NLRP1 inflammasome	REACTOME	R-HSA-844455

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
12191486	2002	The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta.	1466
17377159	2007	NALP1 in vitiligo-associated multiple autoimmune disease.	147
17164409	2007	Inflammasome components NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response.	142
19120479	2009	Inflammasomes: guardians of cytosolic sanctity.	140
17418785	2007	Bcl-2 and Bcl-XL regulate proinflammatory caspase-1 activation by interaction with NALP1.	113
19223160	2009	Sensing pathogens and danger signals by the inflammasome.	87
21252346	2011	Discovery of a viral NLR homolog that inhibits the inflammasome.	87
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
24008734	2013	Intravenous immunoglobulin suppresses NLRP1 and NLRP3 inflammasome-mediated neuronal death in ischemic stroke.	85
21098108	2011	NALP1 influences susceptibility to human congenital toxoplasmosis, proinflammatory cytokine response, and fate of Toxoplasma gondii-infected monocytic cells.	72

Citation

Dessen P

NLRP1 (NLR family pyrin domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43368/nlrp1-(nlr-family-pyrin-domain-containing-1)