KMT2E
entrez
55904
canonical
uniprot
Q8IZD2
canonical
ensembl
ENSG00000005483
resolver
ensp
ENSP00000312379
resolver
ensp
ENSP00000417156
resolver
ensp
ENSP00000419525
resolver
genesymbol
KMT2E
resolver
genesymbol_syn
MLL5
resolver
hgnc
HGNC:18541
resolver
uniprot
B6ZDE4
resolver
uniprot
B6ZDM3
resolver
uniprot
M4K8J3
resolver
uniprot
Q6P5Y2
resolver
uniprot
Q6PKG4
resolver
uniprot
Q6T316
resolver
uniprot
Q86TI3
resolver
uniprot
Q86W12
resolver
uniprot
Q86WG0
resolver
uniprot
Q86WL2
resolver
uniprot
Q8IV78
resolver
uniprot
Q8IWR5
resolver
uniprot
Q8NFF8
resolver
uniprot
Q9NWE7
resolver
uniprot_entry
KMT2E_HUMAN
resolver
uniprot_sec
B6ZDE4
resolver
uniprot_sec
B6ZDM3
resolver
uniprot_sec
M4K8J3
resolver
uniprot_sec
Q6P5Y2
resolver
uniprot_sec
Q6PKG4
resolver
uniprot_sec
Q6T316
resolver
uniprot_sec
Q86TI3
resolver
uniprot_sec
Q86W12
resolver
uniprot_sec
Q86WG0
resolver
uniprot_sec
Q86WL2
resolver
uniprot_sec
Q8IV78
resolver
uniprot_sec
Q8IWR5
resolver
uniprot_sec
Q8NFF8
resolver
uniprot_sec
Q9NWE7
resolver
amino_acid_sequence
MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLPYADHNYGARPPPTPPASPPPSVLISKNEVGIFTTPNFDETSSATTISTSEDGSYGTDVTRCICGFTHDDGYMICCDKCSVWQHIDCMGIDRQHIPDTYLCERCQPRNLDKERAVLLQRRKRENMSDGDTSATESGDEVPVELYTAFQHTPTSITLTASRVSKVNDKRRKKSGEKEQHISKCKKAFREGSRKSSRVKGSAPEIDPSSDGSNFGWETKIKAWMDRYEEANNNQYSEGVQREAQRIALRLGNGNDKKEMNKSDLNTNNLLFKPPVESHIQKNKKILKSAKDLPPDALIIEYRGKFMLREQFEANGYFFKRPYPFVLFYSKFHGLEMCVDARTFGNEARFIRRSCTPNAEVRHEIQDGTIHLYIYSIHSIPKGTEITIAFDFDYGNCKYKVDCACLKENPECPVLKRSSESMENINSGYETRRKKGKKDKDISKEKDTQNQNITLDCEGTTNKMKSPETKQRKLSPLRLSVSNNQEPDFIDDIEEKTPISNEVEMESEEQIAERKRKMTREERKMEAILQAFARLEKREKRREQALERISTAKTEVKTECKDTQIVSDAEVIQEQAKEENASKPTPAKVNRTKQRKSFSRSRTHIGQQRRRHRTVSMCSDIQPSSPDIEVTSQQNDIENTVLTIEPETETALAEIITETEVPALNKCPTKYPKTKKHLVNEWLSEKNEKTGKPSDGLSERPLRITTDPEVLATQLNSLPGLTYSPHVYSTPKHYIRFTSPFLSEKRRRKEPTENISGSCKKRWLKQALEEENSAILHRFNSPCQERSRSPAVNGENKSPLLLNDSCSLPDLTTPLKKRRFYQLLDSVYSETSTPTPSPYATPTHTDITPMDPSFATPPRIKSDDETCRNGYKPIYSPVTPVTPGTPGNTMHFENISSPESSPEIKRRTYSQEGYDRSSTMLTLGPFRNSNLTELGLQEIKTIGYTSPRSRTEVNRQCPGEKEPVSDLQLGLDAVEPTALHKTLETPAHDRAEPNSQLDSTHSGRGTMYSSWVKSPDRTGVNFSVNSNLRDLTPSHQLEVGGGFRISESKCLMQDDTRGMFMETTVFCTSEDGLVSGFGRTVNDNLIDGNCTPQNPPQKKKVSLLEYRKRQREARKSGSKTENFPLISVSPHASGSLSNNGDGCASSNDNGEQVDHTASLPLPTPATVYNATSEETSNNCPVKDATASEKNEPEVQWTASTSVEQVRERSYQRALLLSDHRKDKDSGGESPCVSCSPSHVQSSPSSHSNHIPQLQAKGPVPSFSELMEDPDPENPEPTTTNECPSPDTSQNTCKSPPKMSKPGSPGSVIPAQAHGKIFTKPDPQWDSTVSASEAENGVHLKTELQQKQLSNNNQALSKNHPPQTHVRNSSEQLSQKLPSVPTKLHCPPSPHLENPPKSSTPHTPVQHGYLSPKPPSQQLGSPYRPHHSQSPQVGTPQREPQRNFYPAAQNLPANTQQATSGTLFTQTPSGQSSATYSQFNQQSLNSTAPPPPPPPPPSSSYYQNQQPSANFQNYNQLKGSLSQQTVFTSGPNQALPGTTSQQTVPGHHVTPGHFLPSQNPTIHHQTAAAVVPPPPPPPPAPGPHLVQQPNSHQQHSVAHVVGPVHAVTPGSHIHSQTAGHHLPPPPPPPGPAPHHHPPPHPSTGLQGLQAQHQHVVNSAPPPPPPPPPSSVLASGHHTTSAQALHHPPHQGPPLFPSSAHPTVPPYPSQATHHTTLGPGPQHQPSGTGPHCPLPVTGPHLQPQGPNSIPTPTASGFCPHPGSVALPHGVQGPQQASPVPGQIPIHRAQVPPTFQNNYHGSGWH
uniprot
proteins
disease_involvement
DISEASE: O'Donnell-Luria-Rodan syndrome (ODLURO) [MIM:618512]: 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. {ECO:0000269|PubMed:31079897}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:Q3UG20, ECO:0000269|PubMed:14718661, ECO:0000269|PubMed:18573682, ECO:0000269|PubMed:23629655, ECO:0000269|PubMed:23798402, ECO:0000269|PubMed:24130829}.; FUNCTION: [Isoform NKp44L]: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity. {ECO:0000269|PubMed:23958951}.
uniprot
proteins
mass_dalton
204965
uniprot
proteins
mutagenesis
MUTAGEN 63..66; /note="DHNY->AAAA: Abolishes interaction with HCFC1."; /evidence="ECO:0000269|PubMed:23629655"; MUTAGEN 125; /note="F->A: No effect on binding to tri-methylated 'Lys-4' of histone H3 (H3K4me3)."; /evidence="ECO:0000269|PubMed:23798402"; MUTAGEN 128; /note="D->K: Severe reduction in the binding to tri-methylated 'Lys-4' of histone H3 (H3K4me3)."; /evidence="ECO:0000269|PubMed:23798402"; MUTAGEN 131; /note="Y->A,K: Severe reduction in the binding to tri-methylated 'Lys-4' of histone H3 (H3K4me3)."; /evidence="ECO:0000269|PubMed:23798402"; MUTAGEN 141; /note="W->A: Loss of binding to tri-methylated 'Lys-4' of histone H3 (H3K4me3)."; /evidence="ECO:0000269|PubMed:23798402"; MUTAGEN 411; /note="C->A: Fails to activate the cell cycle regulated element (CCRE) in the cyclin A promoter."; /evidence="ECO:0000269|PubMed:19264965
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. Deubiquitinated by USP7. {ECO:0000269|PubMed:26678539}.; PTM: O-glycosylated at Ser-435 and Thr-440 in the SET domain by OGT which probably prevents KMT2E proteasomal-mediated degradation. {ECO:0000269|PubMed:26678539}.
uniprot
proteins
protein_family
Class V-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
Histone-lysine methyltransferase family
uniprot
proteins
protein_family
TRX/MLL subfamily
uniprot
proteins
pubmed
12101424
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14718661
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18573682
uniprot
proteins
pubmed
19264965
uniprot
proteins
pubmed
19377461
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23629655
uniprot
proteins
pubmed
23798402
uniprot
proteins
pubmed
23958951
uniprot
proteins
pubmed
24130829
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24336203
uniprot
proteins
pubmed
26678539
uniprot
proteins
pubmed
27812132
uniprot
proteins
pubmed
31079897
uniprot
proteins
sequence_length
1858
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:23798402}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23798402}. Nucleus speckle {ECO:0000269|PubMed:14718661}. Note=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). {ECO:0000269|PubMed:14718661, ECO:0000269|PubMed:23798402}.; SUBCELLULAR LOCATION: [Isoform 3]: Nucleus, nucleoplasm {ECO:0000269|PubMed:23629655, ECO:0000269|PubMed:26678539}. Nucleus speckle {ECO:0000269|PubMed:23798402}. Note=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). {ECO:0000269|PubMed:23629655, ECO:0000269|PubMed:23798402}.; SUBCELLULAR LOCATION: [Isoform NKp44L]: Cytoplasm {ECO:0000269|PubMed:23958951}. Cell membrane {ECO:0000269|PubMed:23958951}; Peripheral membrane protein {ECO:0000269|PubMed:23958951}.
uniprot
proteins