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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Potential drug targets RAS pathway related proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
q14.2
Chromosome location (bp)
64452090 - 64502114
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15. Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X 16,17,18,19,20,21. This activity allows subsequent homodimerization and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB 22,23,24,25. In order to establish such an antiviral state, TBK1 form several different complexes whose composition depends on the type of cell and cellular stimuli 26,27,28. Plays a key role in IRF3 activation: acts by first phosphorylating innate adapter proteins MAVS, STING1 and TICAM1 on their pLxIS motif, leading to recruitment of IRF3, thereby licensing IRF3 for phosphorylation by TBK1 29,30. Phosphorylated IRF3 dissociates from the adapter proteins, dimerizes, and then enters the nucleus to induce expression of interferons 31. Thus, several scaffolding molecules including FADD, TRADD, MAVS, AZI2, TANK or TBKBP1/SINTBAD can be recruited to the TBK1-containing-complexes 32. Under particular conditions, functions as a NF-kappa-B effector by phosphorylating NF-kappa-B inhibitor alpha/NFKBIA, IKBKB or RELA to translocate NF-Kappa-B to the nucleus 33,34. Restricts bacterial proliferation by phosphorylating the autophagy receptor OPTN/Optineurin on 'Ser-177', thus enhancing LC3 binding affinity and antibacterial autophagy 35. Phosphorylates SMCR8 component of the C9orf72-SMCR8 complex, promoting autophagosome maturation 36. Phosphorylates ATG8 proteins MAP1LC3C and GABARAPL2, thereby preventing their delipidation and premature removal from nascent autophagosomes 37. Phosphorylates and activates AKT1 38. Seems to play a role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, wich leads to a negative impact on insulin sensitivity (By similarity). Attenuates retroviral budding by phosphorylating the endosomal sorting complex required for transport-I (ESCRT-I) subunit VPS37C 39. Phosphorylates Borna disease virus (BDV) P protein 40. Plays an essential role in the TLR3- and IFN-dependent control of herpes virus HSV-1 and HSV-2 infections in the central nervous system 41. Acts both as a positive and negative regulator of the mTORC1 complex, depending on the context: activates mTORC1 in response to growth factors by catalyzing phosphorylation of MTOR, while it limits the mTORC1 complex by promoting phosphorylation of RPTOR 42,43....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. The protein is also an important kinase for antiviral innate immunity response. [provided by RefSeq, Sep 2021]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Kinases MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0002218[activation of innate immune response] GO:0002376[immune system process] GO:0003676[nucleic acid binding] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006468[protein phosphorylation] GO:0006954[inflammatory response] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0009615[response to virus] GO:0010468[regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0016239[positive regulation of macroautophagy] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019903[protein phosphatase binding] GO:0032479[regulation of type I interferon production] GO:0032481[positive regulation of type I interferon production] GO:0032727[positive regulation of interferon-alpha production] GO:0032728[positive regulation of interferon-beta production] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0042802[identical protein binding] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043231[intracellular membrane-bounded organelle] GO:0044565[dendritic cell proliferation] GO:0045087[innate immune response] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050830[defense response to Gram-positive bacterium] GO:0051219[phosphoprotein binding] GO:0051607[defense response to virus] GO:0060337[type I interferon signaling pathway] GO:0060340[positive regulation of type I interferon-mediated signaling pathway] GO:0106310[protein serine kinase activity] GO:1901214[regulation of neuron death] GO:1902554[serine/threonine protein kinase complex] GO:1904417[positive regulation of xenophagy]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Kinases MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0002376[immune system process] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006468[protein phosphorylation] GO:0006954[inflammatory response] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0009615[response to virus] GO:0016239[positive regulation of macroautophagy] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019903[protein phosphatase binding] GO:0032479[regulation of type I interferon production] GO:0032481[positive regulation of type I interferon production] GO:0032727[positive regulation of interferon-alpha production] GO:0032728[positive regulation of interferon-beta production] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043231[intracellular membrane-bounded organelle] GO:0045087[innate immune response] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051219[phosphoprotein binding] GO:0051607[defense response to virus] GO:0060337[type I interferon signaling pathway] GO:0106310[protein serine kinase activity] GO:1901214[regulation of neuron death] GO:1902554[serine/threonine protein kinase complex]
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
