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Details on Person UniProt:O14686-1 KMT2D
| Class:Id | ReferenceIsoform:401245 |
|---|---|
| _chainChangeLog | chain:1-5537 added on Fri February 6 2015 |
| _displayName | UniProt:O14686-1 KMT2D |
| _timestamp | 2025-02-21 19:39:23 |
| chain | chain:1-5537 |
| checksum | 31C6DAB0A754F72A |
| comment | FUNCTION Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:17500065, PubMed:25561738). Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription (PubMed:16603732).CATALYTIC ACTIVITY L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+)SUBUNIT Component of the MLL2 complex (also named ASCOM complex), at least composed of catalytic subunit KMT2D/MLL2, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin (PubMed:12482968, PubMed:16603732, PubMed:17021013, PubMed:17500065, PubMed:17761849, PubMed:17851529, PubMed:23508102). Forms a core complex with the evolutionary conserved subcomplex WRAD composed of WDR5, RBBP5, ASH2L/ASH2 and DPY30 subunits; WRAD differentially stimulates the methyltransferase activity (PubMed:25561738). Interacts with ESR1; interaction is direct (PubMed:16603732). Interacts (via WIN motif) with WDR5 (PubMed:22266653, PubMed:22665483).INTERACTION Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.DOMAIN LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS This gene mapped to a chromosomal region involved in duplications and translocations associated with cancer.SIMILARITY Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.CAUTION Another protein KMT2B/MLL4, located on chromosome 19, was first named MLL2 (see AC Q9UMN6). Thus, KMT2B/MLL4 is often referred to as MLL2 and vice versa in the literature. |
| created | [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 |
| description | recommendedName: Histone-lysine N-methyltransferase 2D shortName: Lysine N-methyltransferase 2D ecNumber evidence="30"2.1.1.364 alternativeName: ALL1-related protein alternativeName: Myeloid/lymphoid or mixed-lineage leukemia protein 2 |
| geneName | KMT2D ALR MLL2 MLL4 |
| identifier | O14686 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Chromatin regulator Coiled coil Congenital hypothyroidism Deafness Disease variant Intellectual disability Isopeptide bond Metal-binding Methylation Methyltransferase Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat S-adenosyl-L-methionine Transcription Transcription regulation Transferase Ubl conjugation Zinc Zinc-finger |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | KMT2D |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9003608] ENSEMBL:ENSG00000167548 KMT2D [Homo sapiens] |
| secondaryIdentifier | KMT2D_HUMAN O14687 |
| sequenceLength | 5537 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | O14686-1 |
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No pathways have been reviewed or authored by UniProt:O14686-1 KMT2D (401245)
