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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 Metabolic proteins Plasma proteins Potential drug targets Transcription factors
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
q23.3
Chromosome location (bp)
118436456 - 118526832
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Histone methyltransferase that plays an essential role in early development and hematopoiesis 1,2,3,4,5,6,7. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac) 8,9,10,11,12,13,14,15. Catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place 16,17,18,19,20,21,22,23. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity 24,25. Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9' 26. Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state 27. Required for transcriptional activation of HOXA9 28,29,30. Promotes PPP1R15A-induced apoptosis 31. Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-BMAL1 heterodimer (By similarity). Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-BMAL1 to chromatin (By similarity). Also has auto-methylation activity on Cys-3882 in absence of histone H3 substrate 32....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.
Metal-binding, S-adenosyl-L-methionine, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...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 Metabolic proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations 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:0003677[DNA binding] GO:0003680[minor groove of adenine-thymine-rich DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0006915[apoptotic process] GO:0008168[methyltransferase activity] GO:0008270[zinc ion binding] GO:0016570[histone modification] GO:0016740[transferase activity] GO:0032259[methylation] 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:0044648[histone H3-K4 dimethylation] GO:0045064[T-helper 2 cell differentiation] GO:0045322[unmethylated CpG binding] GO:0045815[transcriptional initiation-coupled chromatin remodeling] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0051568[histone H3-K4 methylation] GO:0065003[protein-containing complex assembly] GO:0070577[lysine-acetylated histone binding] GO:0071339[MLL1 complex] GO:0080182[histone H3-K4 trimethylation] GO:0097692[histone H3-K4 monomethylation] GO:0106363[protein-cysteine methyltransferase activity] GO:0140945[] GO:1905642[negative regulation of DNA methylation]
Metabolic proteins THUMBUP 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Metabolic proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677[DNA binding] GO:0003680[minor groove of adenine-thymine-rich DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006306[DNA methylation] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0006915[apoptotic process] GO:0008168[methyltransferase activity] GO:0008270[zinc ion binding] 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:0016570[histone modification] GO:0016740[transferase activity] GO:0018026[peptidyl-lysine monomethylation] GO:0032259[methylation] 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:0044648[histone H3-K4 dimethylation] GO:0045064[T-helper 2 cell differentiation] GO:0045322[unmethylated CpG binding] GO:0045815[transcriptional initiation-coupled chromatin remodeling] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048144[fibroblast proliferation] GO:0048147[negative regulation of fibroblast proliferation] GO:0048172[regulation of short-term neuronal synaptic plasticity] GO:0048511[rhythmic process] GO:0048536[spleen development] GO:0048873[homeostasis of number of cells within a tissue] GO:0050890[cognition] GO:0051568[histone H3-K4 methylation] GO:0051899[membrane depolarization] GO:0060216[definitive hemopoiesis] GO:0065003[protein-containing complex assembly] GO:0070577[lysine-acetylated histone binding] GO:0071339[MLL1 complex] GO:0080182[histone H3-K4 trimethylation] GO:0097692[histone H3-K4 monomethylation] GO:0106363[protein-cysteine methyltransferase activity] GO:0140945[] GO:1905642[negative regulation of DNA methylation]
Metabolic 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Metabolic proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677[DNA binding] GO:0003680[minor groove of adenine-thymine-rich DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0006915[apoptotic process] GO:0008168[methyltransferase activity] GO:0008270[zinc ion binding] GO:0016570[histone modification] GO:0016740[transferase activity] GO:0032259[methylation] 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:0044648[histone H3-K4 dimethylation] GO:0045064[T-helper 2 cell differentiation] GO:0045322[unmethylated CpG binding] GO:0045815[transcriptional initiation-coupled chromatin remodeling] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0051568[histone H3-K4 methylation] GO:0065003[protein-containing complex assembly] GO:0070577[lysine-acetylated histone binding] GO:0071339[MLL1 complex] GO:0080182[histone H3-K4 trimethylation] GO:0097692[histone H3-K4 monomethylation] GO:0106363[protein-cysteine methyltransferase activity] GO:0140945[] GO:1905642[negative regulation of DNA methylation]
Metabolic proteins THUMBUP 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic proteins THUMBUP 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic proteins THUMBUP 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Metabolic proteins THUMBUP 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 Somatic Mutations COSMIC Other Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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