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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).
Cancer-related genes Disease related genes Enzymes Human disease related genes Plasma proteins Potential drug targets
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
11
Cytoband
q22.3
Chromosome location (bp)
108223044 - 108369102
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 protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15. Recognizes the substrate consensus sequence [ST]-Q 16,17,18,19,20,21,22,23,24,25,26. Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism (By similarity). Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FBXW7, FANCD2, NFKBIA, BRCA1, CREBBP/CBP, RBBP8/CTIP, MRE11, nibrin (NBN), RAD50, RAD17, PELI1, TERF1, UFL1, RAD9, UBQLN4 and DCLRE1C 27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation 47. Phosphorylates ATF2 which stimulates its function in DNA damage response 48. Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks 49. Phosphorylates TTC5/STRAP at 'Ser-203' in the cytoplasm in response to DNA damage, which promotes TTC5/STRAP nuclear localization 50. Also involved in pexophagy by mediating phosphorylation of PEX5: translocated to peroxisomes in response to reactive oxygen species (ROS), and catalyzes phosphorylation of PEX5, promoting PEX5 ubiquitination and induction of pexophagy 51....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 are involved in a particular biological process.
Cell cycle, DNA damage
Ligand (UniProt)i
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 protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]...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 Atypical kinases SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000077[DNA damage checkpoint signaling] GO:0000166[nucleotide binding] GO:0000425[pexophagy] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0002331[pre-B cell allelic exclusion] GO:0003677[DNA binding] GO:0004674[protein serine/threonine kinase activity] GO:0004677[DNA-dependent protein kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005777[peroxisome] GO:0005782[peroxisomal matrix] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006468[protein phosphorylation] GO:0006950[response to stress] GO:0006974[cellular response to DNA damage stimulus] GO:0006977[DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] GO:0007049[cell cycle] GO:0007094[mitotic spindle assembly checkpoint signaling] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0007131[reciprocal meiotic recombination] GO:0007165[signal transduction] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0010212[response to ionizing radiation] GO:0010506[regulation of autophagy] GO:0010628[positive regulation of gene expression] GO:0016301[kinase activity] GO:0016303[1-phosphatidylinositol-3-kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0019219[regulation of nucleobase-containing compound metabolic process] GO:0030335[positive regulation of cell migration] GO:0030889[negative regulation of B cell proliferation] GO:0031410[cytoplasmic vesicle] GO:0032210[regulation of telomere maintenance via telomerase] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0035173[histone kinase activity] GO:0036092[phosphatidylinositol-3-phosphate biosynthetic process] GO:0036289[peptidyl-serine autophosphorylation] GO:0042770[signal transduction in response to DNA damage] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043517[positive regulation of DNA damage response, signal transduction by p53 class mediator] GO:0044877[protein-containing complex binding] GO:0045785[positive regulation of cell adhesion] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046777[protein autophosphorylation] GO:0047485[protein N-terminus binding] GO:0048584[positive regulation of response to stimulus] GO:0051726[regulation of cell cycle] GO:0071044[histone mRNA catabolic process] GO:0071300[cellular response to retinoic acid] GO:0071480[cellular response to gamma radiation] GO:0071481[cellular response to X-ray] GO:0071500[cellular response to nitrosative stress] GO:0080135[regulation of cellular response to stress] GO:0090398[cellular senescence] GO:0090399[replicative senescence] GO:0097694[establishment of RNA localization to telomere] GO:0097695[establishment of protein-containing complex localization to telomere] GO:0106310[protein serine kinase activity] GO:1900034[regulation of cellular response to heat] GO:1901796[regulation of signal transduction by p53 class mediator] GO:1904262[negative regulation of TORC1 signaling] GO:1904354[negative regulation of telomere capping] GO:1904358[positive regulation of telomere maintenance via telomere lengthening] GO:1904884[positive regulation of telomerase catalytic core complex assembly] GO:1990391[DNA repair complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Kinases Atypical kinases SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000077[DNA damage checkpoint signaling] GO:0000166[nucleotide binding] GO:0000425[pexophagy] GO:0000723[telomere maintenance] GO:0000724[double-strand break repair via homologous recombination] GO:0000781[chromosome, telomeric region] GO:0001541[ovarian follicle development] GO:0001666[response to hypoxia] GO:0001756[somitogenesis] GO:0002331[pre-B cell allelic exclusion] GO:0002376[immune system process] GO:0003677[DNA binding] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004677[DNA-dependent protein kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005777[peroxisome] GO:0005782[peroxisomal matrix] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006468[protein phosphorylation] GO:0006915[apoptotic process] GO:0006950[response to stress] GO:0006974[cellular response to DNA damage stimulus] GO:0006977[DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] GO:0007049[cell cycle] GO:0007094[mitotic spindle assembly checkpoint signaling] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0007131[reciprocal meiotic recombination] GO:0007140[male meiotic nuclear division] GO:0007143[female meiotic nuclear division] GO:0007165[signal transduction] GO:0007292[female gamete generation] GO:0007420[brain development] GO:0007507[heart development] GO:0008340[determination of adult lifespan] GO:0008585[female gonad development] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009791[post-embryonic development] GO:0010212[response to ionizing radiation] GO:0010506[regulation of autophagy] GO:0010628[positive regulation of gene expression] GO:0016301[kinase activity] GO:0016303[1-phosphatidylinositol-3-kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0019219[regulation of nucleobase-containing compound metabolic process] GO:0030335[positive regulation of cell migration] GO:0030889[negative regulation of B cell proliferation] GO:0031410[cytoplasmic vesicle] GO:0032210[regulation of telomere maintenance via telomerase] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0033151[V(D)J recombination] GO:0035173[histone kinase activity] GO:0035264[multicellular organism growth] GO:0036092[phosphatidylinositol-3-phosphate biosynthetic process] GO:0036289[peptidyl-serine autophosphorylation] GO:0042159[lipoprotein catabolic process] GO:0042770[signal transduction in response to DNA damage] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043517[positive regulation of DNA damage response, signal transduction by p53 class mediator] GO:0043525[positive regulation of neuron apoptotic process] GO:0044877[protein-containing complex binding] GO:0045141[meiotic telomere clustering] GO:0045785[positive regulation of cell adhesion] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046777[protein autophosphorylation] GO:0047485[protein N-terminus binding] GO:0048538[thymus development] GO:0048584[positive regulation of response to stimulus] GO:0048599[oocyte development] GO:0051402[neuron apoptotic process] GO:0051726[regulation of cell cycle] GO:0070192[chromosome organization involved in meiotic cell cycle] GO:0071044[histone mRNA catabolic process] GO:0071300[cellular response to retinoic acid] GO:0071480[cellular response to gamma radiation] GO:0071481[cellular response to X-ray] GO:0071500[cellular response to nitrosative stress] GO:0080135[regulation of cellular response to stress] GO:0090398[cellular senescence] GO:0090399[replicative senescence] GO:0097694[establishment of RNA localization to telomere] GO:0097695[establishment of protein-containing complex localization to telomere] GO:0106310[protein serine kinase activity] GO:1900034[regulation of cellular response to heat] GO:1901216[positive regulation of neuron death] GO:1901796[regulation of signal transduction by p53 class mediator] GO:1903626[positive regulation of DNA catabolic process] GO:1903978[regulation of microglial cell activation] GO:1904262[negative regulation of TORC1 signaling] GO:1904354[negative regulation of telomere capping] GO:1904358[positive regulation of telomere maintenance via telomere lengthening] GO:1904884[positive regulation of telomerase catalytic core complex assembly] GO:1905843[regulation of cellular response to gamma radiation] GO:1990391[DNA repair complex] GO:2001022[positive regulation of response to DNA damage stimulus]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
