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Most cancer tissues showed moderate nuclear positivity. Few cases of squamous cell carcinomas of cervix and ovarian cancers along with head and neck cancers displayed strong immunoreactivity. Several cancers of liver, testis along with few kidney, pancreas and stomach were weakly stained or negative.
This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
Enzymes ENZYME proteins Transferases THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001046 [core promoter sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003680 [AT DNA binding] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006306 [DNA methylation] GO:0006325 [chromatin organization] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0006915 [apoptotic process] GO:0008270 [zinc ion binding] GO:0008285 [negative regulation of cell proliferation] GO:0008542 [visual learning] GO:0009416 [response to light stimulus] GO:0009791 [post-embryonic development] GO:0009952 [anterior/posterior pattern specification] GO:0010468 [regulation of gene expression] GO:0018026 [peptidyl-lysine monomethylation] GO:0032411 [positive regulation of transporter activity] GO:0032922 [circadian regulation of gene expression] GO:0035097 [histone methyltransferase complex] GO:0035162 [embryonic hemopoiesis] GO:0035640 [exploration behavior] GO:0035864 [response to potassium ion] GO:0042800 [histone methyltransferase activity (H3-K4 specific)] GO:0042802 [identical protein binding] GO:0042803 [protein homodimerization activity] GO:0043984 [histone H4-K16 acetylation] GO:0044212 [transcription regulatory region DNA binding] GO:0044648 [histone H3-K4 dimethylation] GO:0045322 [unmethylated CpG binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048172 [regulation of short-term neuronal synaptic plasticity] GO:0048536 [spleen development] GO:0048873 [homeostasis of number of cells within a tissue] GO:0050890 [cognition] GO:0051568 [histone H3-K4 methylation] GO:0051569 [regulation of histone H3-K4 methylation] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051899 [membrane depolarization] GO:0060216 [definitive hemopoiesis] GO:0070577 [lysine-acetylated histone binding] GO:0071339 [MLL1 complex] GO:0071440 [regulation of histone H3-K14 acetylation] GO:0080182 [histone H3-K4 trimethylation] GO:1901674 [regulation of histone H3-K27 acetylation] GO:2000615 [regulation of histone H3-K9 acetylation] GO:2001040 [positive regulation of cellular response to drug]
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001046 [core promoter sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003680 [AT DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006325 [chromatin organization] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0006915 [apoptotic process] GO:0008270 [zinc ion binding] GO:0032411 [positive regulation of transporter activity] GO:0032922 [circadian regulation of gene expression] GO:0035097 [histone methyltransferase complex] GO:0035162 [embryonic hemopoiesis] GO:0042800 [histone methyltransferase activity (H3-K4 specific)] GO:0042802 [identical protein binding] GO:0042803 [protein homodimerization activity] GO:0043984 [histone H4-K16 acetylation] GO:0044212 [transcription regulatory region DNA binding] GO:0045322 [unmethylated CpG binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0051568 [histone H3-K4 methylation] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0070577 [lysine-acetylated histone binding] GO:0071339 [MLL1 complex] GO:0071440 [regulation of histone H3-K14 acetylation] GO:0080182 [histone H3-K4 trimethylation] GO:2000615 [regulation of histone H3-K9 acetylation] GO:2001040 [positive regulation of cellular response to drug]
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
