Description: Homo sapiens lysine (K)-specific methyltransferase 2C (KMT2C), mRNA. RefSeq Summary (NM_170606): This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr7:151,832,010-152,133,090 Size: 301,081 Total Exon Count: 59 Strand: - Coding Region Position: hg19 chr7:151,833,917-152,132,871 Size: 298,955 Coding Exon Count: 59
ID:MLL3_HUMAN DESCRIPTION: RecName: Full=Histone-lysine N-methyltransferase MLL3; EC=2.1.1.43; AltName: Full=Homologous to ALR protein; AltName: Full=Lysine N-methyltransferase 2C; Short=KMT2C; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia protein 3; FUNCTION: Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder. CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. SUBUNIT: Component of the MLL2/3 complex (also named ASCOM complex), at least composed of MLL2/ALR or MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta- tubulin. Interacts with histone H3. INTERACTION: Q14686:NCOA6; NbExp=4; IntAct=EBI-1042997, EBI-78670; SUBCELLULAR LOCATION: Nucleus (Probable). TISSUE SPECIFICITY: Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver. DOMAIN: The SET domain interacts with histone H3 but not H2A, H2B and H4, and may have a H3 lysine specific methylation activity. MISCELLANEOUS: Found in a critical region of chromosome 7, which is commonly deleted in malignant myeloid disorders. Partial duplication of the MLL3 gene are found in the juxtacentromeric region of chromosomes 1, 2, 13 and 21. Juxtacentromeric reshuffling of the MLL3 gene has generated the BAGE genes. SIMILARITY: Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily. SIMILARITY: Contains 1 A.T hook DNA-binding domain. SIMILARITY: Contains 1 DHHC-type zinc finger. SIMILARITY: Contains 1 FYR C-terminal domain. SIMILARITY: Contains 1 FYR N-terminal domain. SIMILARITY: Contains 6 PHD-type zinc fingers. SIMILARITY: Contains 1 post-SET domain. SIMILARITY: Contains 1 RING-type zinc finger. SIMILARITY: Contains 1 SET domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8NEZ4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein Q8NEZ4 (Reactome details) participates in the following event(s):
R-HSA-8935740 RUNX1 and GATA1 bind the promoter of the ITGA2B gene R-HSA-8936616 RUNX1 and GATA1 bind the promoter of the GP1BA gene R-HSA-8936979 RUNX1 and GATA1 bind the promoter of the THBS1 gene R-HSA-8937037 RUNX1 and GATA1 bind the promoter of the MIR27A gene R-HSA-8936481 Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter R-HSA-8936621 Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter R-HSA-8937016 Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter R-HSA-8937050 Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter R-HSA-5159245 SETD3, SETD7 (KMT7), WHSC1L1 (KMT3F), Core MLL complex methylate lysine-5 of histone H3 (H3K4) R-HSA-5244692 Core MLL complex, SMYD3, PRDM9 methylate dimethyl-lysine-5 of histone H3 (H3K4) R-HSA-5637686 WHSC1L1 (KMT3F), Core MLL complex, SMYD3 (KMT3E) methylate methyl-lysine-5 of histone H3 (H3K4) R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-8878171 Transcriptional regulation by RUNX1 R-HSA-5619507 Activation of HOX genes during differentiation R-HSA-3214841 PKMTs methylate histone lysines R-HSA-212436 Generic Transcription Pathway R-HSA-1266738 Developmental Biology R-HSA-3247509 Chromatin modifying enzymes R-HSA-73857 RNA Polymerase II Transcription R-HSA-4839726 Chromatin organization R-HSA-74160 Gene expression (Transcription)
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