NLRP12
entrez
91662
canonical
uniprot
P59046
canonical
ensembl
ENSG00000142405
resolver
ensp
ENSP00000319377
resolver
ensp
ENSP00000375653
resolver
ensp
ENSP00000375655
resolver
ensp
ENSP00000587965
resolver
ensp
ENSP00000626426
resolver
ensp
ENSP00000626427
resolver
ensp
ENSP00000626428
resolver
genesymbol
NLRP12
resolver
genesymbol_syn
NALP12
resolver
genesymbol_syn
PYPAF7
resolver
genesymbol_syn
RNO
resolver
hgnc
HGNC:22938
resolver
uniprot
A8MTQ2
resolver
uniprot
B3KTE7
resolver
uniprot
Q8NEU4
resolver
uniprot
Q9BY26
resolver
uniprot_entry
NAL12_HUMAN
resolver
uniprot_sec
A8MTQ2
resolver
uniprot_sec
B3KTE7
resolver
uniprot_sec
Q8NEU4
resolver
uniprot_sec
Q9BY26
resolver
amino_acid_sequence
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELGEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERINRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRLLLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLFQGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPTELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTMCFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQDLRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTSRFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSNIASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLPERTVLLDAYSEHLAAALCTNPNLIELSLYRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQCRLQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALEDLGLRLLCQGLRHPVCRLRTLWLKICRLTAAACDELASTLSVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCKLQTLRLGICRLGSAACEGLSVVLQANHNLRELDLSFNDLGDWGLWLLAEGLQHPACRLQKLWLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVRLLCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAALRVTKPYLDIGC
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:18230725}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an essential role as an potent mitigator of inflammation (PubMed:30559449). Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways (PubMed:15489334, PubMed:17947705). Functions as a negative regulator of NOD2 by targeting it to degradation via the proteasome pathway (PubMed:30559449). In turn, promotes bacterial tolerance (PubMed:30559449). Also inhibits the RIGI-mediated immune signaling against RNA viruses by reducing the E3 ubiquitin ligase TRIM25-mediated 'Lys-63'-linked RIGI activation but enhancing the E3 ubiquitin ligase RNF125-mediated 'Lys-48'-linked RIGI degradation (PubMed:30902577). Also acts as a negative regulator of inflammatory response to mitigate obesity and obesity-associated diseases in adipose tissue (By similarity). {ECO:0000250|UniProtKB:E9Q5R7, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17947705, ECO:0000269|PubMed:30559449, ECO:0000269|PubMed:30902577}.
uniprot
proteins
mass_dalton
120173
uniprot
proteins
protein_family
NLRP family
uniprot
proteins
pubmed
11167794
uniprot
proteins
pubmed
12019269
uniprot
proteins
pubmed
12563287
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17237370
uniprot
proteins
pubmed
17947705
uniprot
proteins
pubmed
18160710
uniprot
proteins
pubmed
18230725
uniprot
proteins
pubmed
21978668
uniprot
proteins
pubmed
28112203
uniprot
proteins
pubmed
30559449
uniprot
proteins
pubmed
30902577
uniprot
proteins
sequence_length
1061
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:30902577}.
uniprot
proteins