full name
NLR family pyrin domain containing 1

synonyms
CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L%2FS, NAC, NALP1, PP1044, SLEV1, VAMAS1, NLRP1, ENSG00000091592

HGNC
HGNC:14374

Entrez Gene
Gene:22861

ENSEMBL
ENSG00000091592

location
chr: 17
start: 5404719
stop: 5487832
strand: -

OMIM
OMIM:606636: NLRP1
OMIM:618803: ?Respiratory papillomatosis, juvenile recurrent, congenital
OMIM:617388: Autoinflammation with arthritis and dyskeratosis
OMIM:615225: Palmoplantar carcinoma, multiple self-healing
OMIM:606579: {Vitiligo-associated multiple autoimmune disease susceptibility 1}

transcripts
NM_001033053.2
NM_033007.3
NM_033006.3
NM_014922.4
NM_033004.3

pathways
Cellular roles of Anthrax toxin [NCBI:138076] [Pathway Interaction Database:anthraxpathway] [PUBMED:12202685] [PUBMED:15031715] [PUBMED:3123387] [PUBMED:11700562] [PUBMED:12700348] [PUBMED:8051159] [PUBMED:15772169] [PUBMED:12867985] [PUBMED:14688124] [PUBMED:15659071] [PUBMED:16473908] [PUBMED:10080100] [PUBMED:9703991] [PUBMED:12724519] [PUBMED:10580119] [PUBMED:11790132] [PUBMED:12468536] [PUBMED:16401723] [PUBMED:15010463] [PUBMED:12724328] [PUBMED:10338520] [PUBMED:9563949] [PUBMED:16429160] [PUBMED:6285339] [PUBMED:3917427] [PUBMED:12488448] [PUBMED:1438214] [PUBMED:9234799] [PUBMED:16254597] [PUBMED:15814721] [PUBMED:16141341] [PUBMED:1644824] [PUBMED:16242117] [PUBMED:16293226]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Inflammasomes [NCBI:1269253] [REACTOME:R-HSA-622312] [PUBMED:20303873] [PUBMED:19120479]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
NOD-like receptor signaling pathway [NCBI:122191] [KEGG:hsa04621] [PUBMED:25330206] [PUBMED:21575908] [PUBMED:23846113] [PUBMED:26549800] [PUBMED:16493424] [PUBMED:23124073] [PUBMED:24840700] [PUBMED:27291964] [PUBMED:27012466] [PUBMED:24707857] [PUBMED:19767725] [PUBMED:25879280] [PUBMED:23215645] [PUBMED:22819539] [PUBMED:23702978] [PUBMED:20643110] [PUBMED:25879288] [PUBMED:26655628] [PUBMED:25145756] [PUBMED:24718315] [PUBMED:26482951] [PUBMED:25526305] [PUBMED:26121197] [PUBMED:22430786]
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways [NCBI:1269251] [REACTOME:R-HSA-168643] [PUBMED:18928408]
The NLRP1 inflammasome [NCBI:1269255] [REACTOME:R-HSA-844455] [PUBMED:12191486] [PUBMED:17349957]