We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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 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
19
Cytoband
q13.12
Chromosome location (bp)
35717973 - 35738880
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 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 1,2. Likely plays a redundant role with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements 3. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 4. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity). Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation (By similarity)....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.
Transcription, Transcription regulation
Ligand (UniProt)i
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 protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]...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 Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim 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 Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases
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 Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases
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 Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Nervous system diseases Other nervous and sensory system diseases