NLRP1 Chromosome 17
NLR family pyrin domain containing 1
Upload your DNA to see your personal genotypes for variants in NLRP1.
What This Gene Does
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]
Gene Info
Gene Group
"NLR family|Caspase recruitment domain containing|Pyrin domain containing"
Locus Type
gene with protein product
Location
17p13
Ensembl
ENSG00000091592
Associated Conditions (8)
NLRP1-related disorder
Inborn genetic diseases
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Autoinflammation with arthritis and dyskeratosis
Vitiligo-associated multiple autoimmune disease susceptibility 1
Respiratory papillomatosis
juvenile recurrent
congenital
Key Variants
RS115799546
Conflicting classifications of pathogenicity
NLRP1-related disorder, NLRP1-related disorder
Health Risk
RS11653832
Conflicting classifications of pathogenicity
Health Risk
RS139685583
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143175019
Conflicting classifications of pathogenicity
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Autoinflammation with arthritis and dyskeratosis, Vitiligo-associated multiple autoimmune disease susceptibility 1
Health Risk
RS146505967
Conflicting classifications of pathogenicity
Health Risk
RS147100948
Conflicting classifications of pathogenicity
Health Risk
RS147120596
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149535960
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149831544
Conflicting classifications of pathogenicity
Health Risk
RS201338083
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201788309
Conflicting classifications of pathogenicity
NLRP1-related disorder, Inborn genetic diseases, NLRP1-related disorder
Health Risk
RS201871081
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115799546 | Health Risk | Conflicting classifications of pathogenicity | NLRP1-related disorder, NLRP1-related disorder |
| RS11653832 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139685583 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143175019 | Health Risk | Conflicting classifications of pathogenicity | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Autoinflammation with arthritis and dyskeratosis, Vitiligo-associated multiple autoimmune disease susceptibility 1 |
| RS146505967 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147100948 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147120596 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149535960 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149831544 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201338083 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201788309 | Health Risk | Conflicting classifications of pathogenicity | NLRP1-related disorder, Inborn genetic diseases, NLRP1-related disorder |
| RS201871081 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201871435 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202057812 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202125502 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202167110 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2151803221 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2151803259 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS532221052 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61753138 | Health Risk | Conflicting classifications of pathogenicity | NLRP1-related disorder, NLRP1-related disorder |
| RS61753139 | Health Risk | Conflicting classifications of pathogenicity | NLRP1-related disorder, NLRP1-related disorder |
| RS761656607 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769475535 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS971095282 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS980793433 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057519493 | Health Risk | Likely pathogenic | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome |
| RS1057519492 | Health Risk | Pathogenic | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome |
| RS1597458411 | Health Risk | Pathogenic | Respiratory papillomatosis, juvenile recurrent, congenital |
| RS397514692 | Health Risk | Pathogenic | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome |
| RS1057524876 | Health Risk | Pathogenic/Likely pathogenic | Autoinflammation with arthritis and dyskeratosis, Autoinflammation with arthritis and dyskeratosis |