NLRP1 (NLR family pyrin domain containing 1)

2006-10-01  

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

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091592ENST00000262467Q9C000
ENSG00000091592ENST00000269280Q9C000
ENSG00000091592ENST00000345221Q9C000
ENSG00000091592ENST00000354411Q9C000
ENSG00000091592ENST00000544378Q9C000
ENSG00000091592ENST00000571451Q9C000
ENSG00000091592ENST00000572272Q9C000
ENSG00000091592ENST00000576905I3L0S2
ENSG00000091592ENST00000577119Q9C000
ENSG00000091592ENST00000613500Q9C000
ENSG00000091592ENST00000617618Q9C000
ENSG00000091592ENST00000619223Q9C000

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysREACTOMER-HSA-168643
InflammasomesREACTOMER-HSA-622312
The NLRP1 inflammasomeREACTOMER-HSA-844455

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
372781072024Low-level NLRP1 is associated with increased metastasis and risk of recurrence of non-melanoma skin cancer.0
378899862024Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.3
384111062024NLRP1 restricts porcine deltacoronavirus infection via IL-11 inhibiting the phosphorylation of the ERK signaling pathway.0
385407222024Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia.0
372781072024Low-level NLRP1 is associated with increased metastasis and risk of recurrence of non-melanoma skin cancer.0
378899862024Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.3
384111062024NLRP1 restricts porcine deltacoronavirus infection via IL-11 inhibiting the phosphorylation of the ERK signaling pathway.0
385407222024Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia.0
357761692023The role of NLRP1 and NLRP3 inflammasomes in the etiopathogeneses of pityriasis lichenoides chronica and mycosis fungoides: an immunohistochemical study.4
362071432023Immersion in Water Between 20-30(o)C Mediated Inflammations Marker to Reduced Pain Among Indonesian With Gout Arthritis: A Community-Based Randomized Controlled Trial.0
364169442023A common variant close to the "tripwire" linker region of NLRP1 contributes to severe COVID-19.3
366497102023The NLRP1 and CARD8 inflammasomes detect reductive stress.10
366497112023Protein folding stress potentiates NLRP1 and CARD8 inflammasome activation.11
367364552023Skin Colonization with S. aureus Can Lead to Increased NLRP1 Inflammasome Activation in Patients with Atopic Dermatitis.3
367638752023Current understanding of the phenotypic spectrum of patients with NLRP1 variants.0

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/gene-fusions/gene-fusions-explorer/css/template-nav.css