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MEFV | Mediterranean fever; Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization (781 aa) | |||
PYCARD | PYD and CARD domain containing; Functions as key mediator in apoptosis and inflammation. Promotes caspase-mediated apoptosis involving predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner. Involved in activation of the mitochondrial apoptotic pathway, promotes caspase-8-dependent proteolytic maturation of BID independently of FADD in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis coupled to activation of caspase-9, -2 and -3. Involved in macrophage pyroptosis, a caspase-1-dependent inflammatory [...] (195 aa) | |||
IL1B | interleukin 1, beta; Produced by activated macrophages, IL-1 stimulates thymocyte proliferation by inducing IL-2 release, B-cell maturation and proliferation, and fibroblast growth factor activity. IL-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells (269 aa) | |||
PRKAR2A | protein kinase, cAMP-dependent, regulatory, type II, alpha; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase (404 aa) | |||
GTF2H1 | general transcription factor IIH, polypeptide 1, 62kDa; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II (548 aa) | |||
TP53 | tumor protein p53; Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression (By similarity) (393 aa) | |||
GTF2H2 | general transcription factor IIH, polypeptide 2, 44kDa; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. The N-terminus interacts with and regulates XPD whereas an intact C- terminus is required for a successful escape of RNAP II form the promoter (395 aa) | |||
IL18 | interleukin 18 (interferon-gamma-inducing factor); Augments natural killer cell activity in spleen cells and stimulates interferon gamma production in T-helper type I cells (193 aa) | |||
ERCC3 | excision repair cross-complementing rodent repair deficiency, complementation group 3; ATP-dependent 3’-5’ DNA helicase, component of the core- TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage (782 aa) | |||
PRKAG2 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit; AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes- inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Al [...] (569 aa) | |||
PRKACA | protein kinase, cAMP-dependent, catalytic, alpha; Phosphorylates a large number of substrates in the cytoplasm and the nucleus. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis. Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA, TRPC1 and VASP. RORA is activated by phosphorylation. Required for glucose-mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts. Involved in th [...] (351 aa) | |||
PRKAG1 | protein kinase, AMP-activated, gamma 1 non-catalytic subunit; AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes- inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Al [...] (340 aa) | |||
NLRP3 | NLR family, pyrin domain containing 3 (1036 aa) | |||
PRKAA1 | protein kinase, AMP-activated, alpha 1 catalytic subunit; Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes- inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as [...] (574 aa) | |||
AKAP4 | A kinase (PRKA) anchor protein 4; Major structural component of sperm fibrous sheath. Plays a role in sperm motility (854 aa) | |||
PRKAR1B | protein kinase, cAMP-dependent, regulatory, type I, beta; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells (381 aa) | |||
ERC1 | ELKS/RAB6-interacting/CAST family member 1 (1116 aa) | |||
NLRC4 | NLR family, CARD domain containing 4; Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis (1024 aa) | |||
AIM2 | absent in melanoma 2; Involved in innate immune response by recognizing cytosolic double-stranded DNA and inducing caspase-1-activating inflammasome formation in macrophages. Upon binding to DNA is thought to undergo oligomerization and to associate with PYCARD initiating the recruitment of caspase-1 precusrsor and processing of interleukin-1 beta and interleukin-18. Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner. Can also trigger PYCARD-dependent, caspase-1-independent cell death that involves caspase-8 (By similarity). Tumor suppressor which m [...] (343 aa) | |||
PRKACB | protein kinase, cAMP-dependent, catalytic, beta (398 aa) | |||
MMS19 | MMS19 nucleotide excision repair homolog (S. cerevisiae) (1030 aa) | |||
ERCC2 | excision repair cross-complementing rodent repair deficiency, complementation group 2; ATP-dependent 5’-3’ DNA helicase, component of the core- TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might h [...] (760 aa) | |||
PYDC2 | pyrin domain containing 2; Inhibits NF-kappa-B signaling distally by affecting the nuclear accumulation of RELA. Disrupts the interaction between PYCARD and NLRP3 (97 aa) | |||
GTF2H3 | general transcription factor IIH, polypeptide 3, 34kDa; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Anchors XPB (308 aa) | |||
PSTPIP1 | proline-serine-threonine phosphatase interacting protein 1; Involved in regulation of the actin cytoskeleton. May regulate the WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to the ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allows PTPN12 to dephosphorylate WAS. Has the potential to physically couple CD2 and CD2AP to WAS. Acts downstream of CD2 and CD2AP to recruit WAS to the T-cell-APC contact site so as to promote the actin polymerization required for synapse induction during T-cell activation (By simi [...] (416 aa) | |||
PHKG2 | phosphorylase kinase, gamma 2 (testis); Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity) (406 aa) |