InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NLRP12

Summary

InnateDB Protein

IDBP-67729.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NLRP12

Protein Name

NLR family, pyrin domain containing 12

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000319377

InnateDB Gene

IDBG-67727 (NLRP12)

Protein Structure

UniProt Annotation

Function

May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK.

Subcellular Localization

Cytoplasm.

Disease Associations

Familial cold autoinflammatory syndrome 2 (FCAS2) [MIM:611762]: A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. {ECO:0000269PubMed:18230725}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes. {ECO:0000269PubMed:11167794}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.

Experimentally validated
Total	26 [view]
Protein-Protein	25 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
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:0008588	release of cytoplasmic sequestered NF-kappaB
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: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:0045087	innate immune response (InnateDB)
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

Cellular Component

GO:0005737

cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR003590 Leucine-rich repeat, ribonuclease inhibitor subtype
IPR004020 DAPIN domain
IPR007111 NACHT nucleoside triphosphatase
IPR011029 Death-like domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF02758

PRINTS

PIRSF

SMART

SM00368

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P59046