Human Gene NLRP12 (ENST00000324134.11) from GENCODE V44
Description: Homo sapiens NLR family pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. (from RefSeq NM_144687) RefSeq Summary (NM_144687): This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]. Gencode Transcript: ENST00000324134.11 Gencode Gene: ENSG00000142405.23 Transcript (Including UTRs) Position: hg38 chr19:53,793,741-53,824,314 Size: 30,574 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr19:53,794,049-53,824,174 Size: 30,126 Coding Exon Count: 10
ID:NAL12_HUMAN DESCRIPTION: RecName: Full=NACHT, LRR and PYD domains-containing protein 12; AltName: Full=Monarch-1; AltName: Full=PYRIN-containing APAF1-like protein 7; AltName: Full=Regulated by nitric oxide; FUNCTION: May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK. SUBUNIT: Binds to ASC with its DAPIN domain. Interacts with FAF1 UBA domain via its DAPIN domain. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes. INDUCTION: By nitric oxide and DMSO in HL-60 cells, an acute myeloid leukemia cell line. DISEASE: Defects in NLRP12 are the cause of familial cold autoinflammatory syndrome type 2 (FCAS2) [MIM:611762]. FCAS are rare autosomal dominant systemic inflammatory diseases characterized by episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold. SIMILARITY: Belongs to the NLRP family. SIMILARITY: Contains 1 DAPIN domain. SIMILARITY: Contains 8 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 NACHT domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P59046
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000166 nucleotide binding GO:0005515 protein binding GO:0005524 ATP binding GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process
Biological Process: GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0007165 signal transduction GO:0009968 negative regulation of signal transduction GO:0031953 negative regulation of protein autophosphorylation GO:0032088 negative regulation of NF-kappaB transcription factor activity GO:0036336 dendritic cell migration GO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0045345 positive regulation of MHC class I biosynthetic process GO:0045381 regulation of interleukin-18 biosynthetic process GO:0045409 negative regulation of interleukin-6 biosynthetic process GO:0045751 negative regulation of Toll signaling pathway GO:0050710 negative regulation of cytokine secretion GO:0050711 negative regulation of interleukin-1 secretion GO:0050718 positive regulation of interleukin-1 beta secretion GO:0050728 negative regulation of inflammatory response GO:0050729 positive regulation of inflammatory response GO:0070373 negative regulation of ERK1 and ERK2 cascade GO:0071345 cellular response to cytokine stimulus GO:1901223 negative regulation of NIK/NF-kappaB signaling GO:1901224 positive regulation of NIK/NF-kappaB signaling
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