{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q8IZD2","secondaryAccessions":["B6ZDE4","B6ZDM3","M4K8J3","Q6P5Y2","Q6PKG4","Q6T316","Q86TI3","Q86W12","Q86WG0","Q86WL2","Q8IV78","Q8IWR5","Q8NFF8","Q9NWE7"],"uniProtkbId":"KMT2E_HUMAN","entryAudit":{"firstPublicDate":"2008-06-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2003-03-01","entryVersion":176,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Histone reader KMT2E"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Inactive histone-lysine N-methyltransferase 2E"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Inactive lysine N-methyltransferase 2E"}]},{"fullName":{"value":"Myeloid/lymphoid or mixed-lineage leukemia protein 5"}}]},"genes":[{"geneName":{"value":"KMT2E"},"synonyms":[{"value":"MLL5"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q3UG20"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14718661"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18573682"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23629655"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23798402"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24130829"}],"value":"Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:23798402, PubMed:24130829). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:23798402, PubMed:24130829). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23958951"}],"value":"Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity"}],"commentType":"FUNCTION","molecule":"Isoform NKp44L"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23629655"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26678539"}],"value":"Component of a complex composed of KMT2E (isoform 3), OGT and USP7; the complex stabilizes KMT2E, preventing KMT2E ubiquitination and proteasomal-mediated degradation (PubMed:26678539). Isoform 3 interacts (via N-terminus) with OGT (via TRP repeats) (PubMed:23629655, PubMed:26678539). Isoform 3 interacts with deubiquitinating enzyme USP7 (via MATH domain) (PubMed:26678539). Isoform 3 interacts (via HBM motif) with HCFC1 (via Kelch domain) (PubMed:23629655). Isoform 3 interacts with E2F1; the interaction is probably indirect and is mediated via HCFC1 (PubMed:23629655)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q8IZD2","intActId":"EBI-2689959"},"interactantTwo":{"uniProtKBAccession":"P04637","geneName":"TP53","intActId":"EBI-366083"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IZD2-3","intActId":"EBI-12900093"},"interactantTwo":{"uniProtKBAccession":"Q9HD20-3","geneName":"ATP13A1","intActId":"EBI-12069500"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IZD2-8","intActId":"EBI-15014150"},"interactantTwo":{"uniProtKBAccession":"O95944","geneName":"NCR2","intActId":"EBI-14058375"},"numberOfExperiments":4,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14718661"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23798402"}],"value":"Absent from the nucleolus (PubMed:14718661). Localizes to chromosome during interphase and to centrosomes during mitosis (PubMed:23798402). Dissociation from mitotic chromosome is likely due to histone H3 phosphorylation on 'Thr-3' and 'Thr-6' (PubMed:23798402)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23798402"}],"value":"Chromosome","id":"SL-0468"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23798402"}],"value":"Cytoplasm, cytoskeleton, microtubule organizing center, centrosome","id":"SL-0048"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14718661"}],"value":"Nucleus speckle","id":"SL-0186"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 3","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23629655"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23798402"}],"value":"Absent from the nucleolus (PubMed:23629655). Localizes to chromosome during interphase and to nucleus speckle during mitosis (PubMed:23798402). Dissociation from mitotic chromosome is likely due to histone H3 phosphorylation on 'Thr-3' and 'Thr-6' (PubMed:23798402)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23629655"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26678539"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23798402"}],"value":"Nucleus speckle","id":"SL-0186"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform NKp44L","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23958951"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23958951"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23958951"}],"value":"Peripheral membrane protein","id":"SL-9903"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12101424"},{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.3"}],"value":"1"},"isoformIds":["Q8IZD2-1"],"isoformSequenceStatus":"Displayed"},{"name":{"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.3"}],"value":"2"},"isoformIds":["Q8IZD2-2"],"sequenceIds":["VSP_052803"],"isoformSequenceStatus":"Described"},{"name":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"}],"value":"3"},"isoformIds":["Q8IZD2-3"],"sequenceIds":["VSP_052804","VSP_052805"],"isoformSequenceStatus":"Described"},{"name":{"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.3"}],"value":"4"},"isoformIds":["Q8IZD2-4"],"sequenceIds":["VSP_052806","VSP_052807"],"isoformSequenceStatus":"Described"},{"name":{"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.3"}],"value":"5"},"isoformIds":["Q8IZD2-5"],"sequenceIds":["VSP_052810","VSP_052812"],"isoformSequenceStatus":"Described"},{"name":{"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.3"}],"value":"6"},"isoformIds":["Q8IZD2-6"],"sequenceIds":["VSP_052809","VSP_052811"],"isoformSequenceStatus":"Described"},{"name":{"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.3"}],"value":"7"},"isoformIds":["Q8IZD2-7"],"sequenceIds":["VSP_052808"],"isoformSequenceStatus":"Described"},{"name":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"23958951"}],"value":"NKp44L"},"isoformIds":["Q8IZD2-8"],"sequenceIds":["VSP_053834","VSP_053835"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12101424"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23958951"}],"value":"Widely expressed in both adult and fetal tissues (PubMed:12101424, PubMed:23958951). Highest levels of expression observed in fetal thymus and kidney and in adult hematopoietic tissues, jejunum and cerebellum (PubMed:12101424, PubMed:23958951). Isoform NKp44L: Not detected on circulating cells from healthy individuals, but is expressed on a large panel of tumor and transformed cells (PubMed:23958951)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23798402"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24130829"}],"value":"The PHD-type domain binds specifically histone H3 tri-methylated at 'Lys-4' (H3K4me3), thus promoting binding to chromatin"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27812132"}],"value":"The SET domain does not bind the methyl group donor S-adenosyl-L-methionine and histone 3 H3K4 peptide as a large loop prevents the docking of the 'Lys-4' side chain"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23798402"}],"value":"The C-terminus domain is responsible for the localization to the centrosome during mitosis"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26678539"}],"value":"Ubiquitinated. Deubiquitinated by USP7"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26678539"}],"value":"O-glycosylated at Ser-435 and Thr-440 in the SET domain by OGT which probably prevents KMT2E proteasomal-mediated degradation"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"O'Donnell-Luria-Rodan syndrome","diseaseAccession":"DI-05620","acronym":"ODLURO","description":"A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities.","diseaseCrossReference":{"database":"MIM","id":"618512"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31079897"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00190"}],"value":"Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily"}],"commentType":"SIMILARITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19264965"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19377461"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24336203"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27812132"}],"value":"Isoform 3 was originally thought to display histone methyltransferase activity only following O-glycosylation at Thr-440 (PubMed:19377461). However, the corresponding article has been retracted (PubMed:24336203). Does not exhibit histone methyltransferase towards histone H3 in vitro (PubMed:19264965, PubMed:27812132). The isolated catalytic SET domain lacks binding activity towards cofactor S-adenosyl-L-methionine; instead of the highly conserved XGXG, Y and NH motifs, KMT2E displays NKKI (Asn-339-Ile-342), F (Phe-381) and RR (Arg-408-Arg-409) motifs (PubMed:27812132). Also lacks binding activity towards histone H3 due to a poor conservation of the key residues involved in the binding and the presence of large loop which prevents the docking of the H3 'Lys-4' side chain (PubMed:27812132)"}],"commentType":"CAUTION"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Miscellaneous discrepancy","sequence":"AAH01296.1","note":"Contaminating sequence. Potential poly-A sequence starting in position 492.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Miscellaneous discrepancy","sequence":"AAH40004.1","note":"Contaminating sequence. Potential poly-A sequence starting in position 227.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Miscellaneous discrepancy","sequence":"AAH53906.1","note":"Contaminating sequence. 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