Human Gene KMT2A (ENST00000534358.8_10) from GENCODE V47lift37
  Description: lysine methyltransferase 2A, transcript variant 1 (from RefSeq NM_001197104.2)
Gencode Transcript: ENST00000534358.8_10
Gencode Gene: ENSG00000118058.25_20
Transcript (Including UTRs)
   Position: hg19 chr11:118,307,207-118,397,547 Size: 90,341 Total Exon Count: 36 Strand: +
Coding Region
   Position: hg19 chr11:118,307,228-118,392,887 Size: 85,660 Coding Exon Count: 36 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:118,307,207-118,397,547)mRNA (may differ from genome)Protein (3972 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MLL1_HUMAN
DESCRIPTION: RecName: Full=Histone-lysine N-methyltransferase MLL; EC=2.1.1.43; AltName: Full=ALL-1; AltName: Full=CXXC-type zinc finger protein 7; AltName: Full=Lysine N-methyltransferase 2A; Short=KMT2A; AltName: Full=Trithorax-like protein; AltName: Full=Zinc finger protein HRX; Contains: RecName: Full=MLL cleavage product N320; AltName: Full=N-terminal cleavage product of 320 kDa; Short=p320; Contains: RecName: Full=MLL cleavage product C180; AltName: Full=C-terminal cleavage product of 180 kDa; Short=p180;
FUNCTION: Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Required for transcriptional activation of HOXA9. Promotes PPP1R15A-induced apoptosis.
CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
SUBUNIT: MLL cleavage product N320 heterodimerizes with MLL cleavage product C180 (via SET and FYRC domains). Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, HCFC2, WDR5, DPY30 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with WDR5; the interaction is direct. Interacts with KAT8/MOF; the interaction is direct. Interacts with SBF1 and PPP1R15A.
INTERACTION: Self; NbExp=5; IntAct=EBI-591370, EBI-591370; Q6P1J9:CDC73; NbExp=4; IntAct=EBI-591370, EBI-930143; Q6PD62:CTR9; NbExp=5; IntAct=EBI-591370, EBI-1019583; P68431:HIST1H3D; NbExp=10; IntAct=EBI-591370, EBI-79722; Q92794:KAT6A; NbExp=10; IntAct=EBI-2638616, EBI-948013; Q9H7Z6:KAT8; NbExp=3; IntAct=EBI-591370, EBI-896414; Q8N7H5:PAF1; NbExp=4; IntAct=EBI-591370, EBI-2607770; Q9UNP9:PPIE; NbExp=5; IntAct=EBI-591370, EBI-591818; Q15291:RBBP5; NbExp=4; IntAct=EBI-591370, EBI-592823; P61964:WDR5; NbExp=11; IntAct=EBI-591370, EBI-540834;
SUBCELLULAR LOCATION: Nucleus.
SUBCELLULAR LOCATION: MLL cleavage product N320: Nucleus.
SUBCELLULAR LOCATION: MLL cleavage product C180: Nucleus. Note=Localizes to a diffuse nuclear pattern when not associated with MLL cleavage product N320.
TISSUE SPECIFICITY: Heart, lung, brain and T- and B-lymphocytes.
DOMAIN: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
DOMAIN: The SET domain structure is atypical and is not in an optimal position to have methyltransferase activity. It requires other components of the MLL1/MLL complex, such as ASH2L or RBBP5, to order the active site and obtain optimal histone methyltransferase activity.
DOMAIN: The CXXC-type zinc finger binds bind to nonmethyl-CpG dinucleotides.
PTM: Proteolytic cleavage by TASP1 generates MLL cleavage product N320 and MLL cleavage product C180, which reassemble through a non-covalent association. 2 cleavage sites exist, cleavage site 1 (CS1) and cleavage site 2 (CS2), to generate MLL cleavage products N320 and C180. CS2 is the major site.
DISEASE: Note=Chromosomal aberrations involving MLL are a cause of acute leukemias. Translocation t(1;11)(q21;q23) with MLLT11/AF1Q; translocation t(3;11)(p21;q23) with NCKIPSD/AF3p21; translocation t(3,11)(q25,q23) with GMPS; translocation t(4;11)(q21;q23) with AFF1/MLLT2/AF4; insertion ins(5;11)(q31;q13q23) with AFF4/AF5Q31; translocation t(5;11)(q12;q23) with AF5-alpha/CENPK; translocation t(6;11)(q27;q23) with MLLT4/AF6; translocation t(9;11)(p22;q23) with MLLT3/AF9; translocation t(10;11)(p11.2;q23) with ABI1; translocation t(10;11)(p12;q23) with MLLT10/AF10; t(11;15)(q23;q14) with CASC5 and ZFYVE19; translocation t(11;17)(q23;q21) with MLLT6/AF17; translocation t(11;19)(q23;p13.3) with ELL; translocation t(11;19)(q23;p13.3) with MLLT1/ENL; translocation t(11;19)(q23;p23) with GAS7; translocation t(X;11)(q13;q23) with FOXO4/AFX1. Translocation t(3;11)(q28;q23) with LPP. Translocation t(10;11)(q22;q23) with TET1. Translocation t(9;11)(q34;q23) with DAB2IP. Translocation t(4;11)(p12;q23) with FRYL. Fusion proteins MLL-MLLT1, MLL-MLLT3 and MLL-ELL interact with PPP1R15A and, on the contrary to unfused MLL, inhibit PPP1R15A-induced apoptosis.
DISEASE: Note=A chromosomal aberration involving MLL may be a cause of chronic neutrophilic leukemia. Translocation t(4;11)(q21;q23) with SEPT11.
SIMILARITY: Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily.
SIMILARITY: Contains 3 A.T hook DNA-binding domains.
SIMILARITY: Contains 1 bromo domain.
SIMILARITY: Contains 1 CXXC-type zinc finger.
SIMILARITY: Contains 1 FYR C-terminal domain.
SIMILARITY: Contains 1 FYR N-terminal domain.
SIMILARITY: Contains 3 PHD-type zinc fingers.
SIMILARITY: Contains 1 post-SET domain.
SIMILARITY: Contains 1 SET domain.
SEQUENCE CAUTION: Sequence=AAA58669.1; Type=Frameshift; Positions=317, 380; Sequence=AAG26332.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAD92745.1; Type=Frameshift; Positions=1098;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MLL.html";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mll/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KMT2A
Diseases sorted by gene-association score: wiedemann-steiner syndrome* (1379), cornelia de lange syndrome 1* (283), leukemia, acute lymphoblastic 3* (261), acute myeloid leukemia with t(9;11)(p22;q23)* (247), nipbl-related cornelia de lange syndrome* (231), myeloid/lymphoid or mixed lineage leukemia* (120), leukemia, acute myeloid* (82), hairy elbows (28), acute myeloid leukemia with 11q23 abnormalities* (25), acute monocytic leukemia (24), chronic neutrophilic leukemia (24), lymphoid leukemia (19), acute biphenotypic leukemia (18), monocytic leukemia (16), ring chromosome 21 (12), acute leukemia (11), cytogenetically normal acute myeloid leukemia (11), hematologic cancer (10), pancreatic cystadenocarcinoma (10), cornelia de lange syndrome* (9), primary mediastinal large b-cell lymphoma (9), acute monoblastic leukemia (9), acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) (9), shwachman-diamond syndrome (8), intravascular large b-cell lymphoma (8), childhood leukemia (8), hypertrichosis (7), leukemia, acute lymphoblastic (7), myeloid sarcoma (7), lymphoblastic lymphoma (6), holoprosencephaly 3 (4), myelodysplastic syndrome (3), leukemia, acute promyelocytic, somatic (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.38 RPKM in Brain - Cerebellum
Total median expression: 303.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.7021-0.224 Picture PostScript Text
3' UTR -1348.804660-0.289 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017956 - AT_hook_DNA-bd_motif
IPR001487 - Bromodomain
IPR003889 - FYrich_C
IPR003888 - FYrich_N
IPR016569 - MeTrfase_trithorax
IPR003616 - Post-SET_dom
IPR001214 - SET_dom
IPR002857 - Znf_CXXC
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR019787 - Znf_PHD-finger
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00628 - PHD-finger
PF00856 - SET domain
PF02008 - CXXC zinc finger domain
PF05964 - F/Y-rich N-terminus
PF05965 - F/Y rich C-terminus
PF13771 - PHD-like zinc-binding domain

SCOP Domains:
47370 - Bromodomain
50249 - Nucleic acid-binding proteins
82199 - SET domain
56327 - LDH C-terminal domain-like
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2AGH - NMR MuPIT 2J2S - NMR MuPIT 2JYI - NMR MuPIT 2KKF - NMR MuPIT 2KU7 - NMR MuPIT 2KYU - NMR MuPIT 2W5Y - X-ray MuPIT 2W5Z - X-ray MuPIT 3EG6 - X-ray MuPIT 3EMH - X-ray MuPIT 3LQH - X-ray MuPIT 3LQI - X-ray MuPIT 3LQJ - X-ray MuPIT 3P4F - X-ray MuPIT 3U85 - X-ray MuPIT 3U88 - X-ray MuPIT 4ESG - X-ray MuPIT 4GQ6 - X-ray


ModBase Predicted Comparative 3D Structure on Q03164
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001046 core promoter sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003680 AT DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0018024 histone-lysine N-methyltransferase activity
GO:0042800 histone methyltransferase activity (H3-K4 specific)
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0044212 transcription regulatory region DNA binding
GO:0045322 unmethylated CpG binding
GO:0046872 metal ion binding
GO:0070577 lysine-acetylated histone binding

Biological Process:
GO:0006306 DNA methylation
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006915 apoptotic process
GO:0008285 negative regulation of cell proliferation
GO:0008542 visual learning
GO:0009416 response to light stimulus
GO:0009791 post-embryonic development
GO:0009952 anterior/posterior pattern specification
GO:0010468 regulation of gene expression
GO:0018026 peptidyl-lysine monomethylation
GO:0032259 methylation
GO:0032411 positive regulation of transporter activity
GO:0032922 circadian regulation of gene expression
GO:0035162 embryonic hemopoiesis
GO:0035640 exploration behavior
GO:0035864 response to potassium ion
GO:0043984 histone H4-K16 acetylation
GO:0044648 histone H3-K4 dimethylation
GO:0045652 regulation of megakaryocyte differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048172 regulation of short-term neuronal synaptic plasticity
GO:0048511 rhythmic process
GO:0048536 spleen development
GO:0048873 homeostasis of number of cells within a tissue
GO:0050890 cognition
GO:0051568 histone H3-K4 methylation
GO:0051569 regulation of histone H3-K4 methylation
GO:0051571 positive regulation of histone H3-K4 methylation
GO:0051899 membrane depolarization
GO:0060216 definitive hemopoiesis
GO:0065003 macromolecular complex assembly
GO:0071440 regulation of histone H3-K14 acetylation
GO:0080182 histone H3-K4 trimethylation
GO:1901674 regulation of histone H3-K27 acetylation
GO:1902036 regulation of hematopoietic stem cell differentiation
GO:1905642 negative regulation of DNA methylation
GO:2000615 regulation of histone H3-K9 acetylation
GO:2001040 positive regulation of cellular response to drug

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0035097 histone methyltransferase complex
GO:0071339 MLL1 complex


-  Descriptions from all associated GenBank mRNAs
  AF272378 - Homo sapiens clone 1370-57 MLL protein mRNA, partial cds.
D14540 - Homo sapiens mRNA for MLL, partial cds.
L04284 - Human germline HRX mRNA, complete cds.
L04731 - Homo sapiens translocation T(4:11) of ALL-1 gene to chromosome 4.
AB209508 - Homo sapiens mRNA for myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) variant protein.
S78570 - MLL=trx zinc-finger domain homolog {alternatively spliced, clone 14p-18B} [human, mRNA Partial, 1098 nt].
AF232000 - Homo sapiens MLL protein (MLL) mRNA, partial cds.
AF272380 - Homo sapiens clone 1370-23 MLL protein mRNA, partial cds.
AF272371 - Homo sapiens clone 1373-39 MLL protein mRNA, partial cds.
AF232001 - Homo sapiens MLL protein (MLL) mRNA, partial cds.
AF272381 - Homo sapiens clone 1370-7 MLL protein mRNA, partial cds.
L01986 - Human trithorax-like protein (TRX1) mRNA, partial cds.
JN169752 - Homo sapiens MLL/AF4 fusion protein (MLL/AF4 fusion) mRNA, partial cds.
KT444631 - Homo sapiens AFF1/KMT2A fusion variant 1, mRNA, breakpoint junction region, partial sequence.
MH128093 - Homo sapiens KMT2A-USP10 fusion protein mRNA, partial cds.
S66432 - MLL {translocation} [human, mRNA PartialMutant, 360 nt].
L22179 - Human MLL-AF4 der(11) fusion protein mRNA, complete cds.
AF024540 - Homo sapiens rearranged MLL protein mRNA, partial cds.
AY187942 - Homo sapiens transcription factor MLL UPN96240 mRNA, partial cds; alternatively spliced.
AY187943 - Homo sapiens transcription factor MLL UPN96240 mRNA, partial cds; alternatively spliced.
AY187945 - Homo sapiens transcription factor MLL UPN95022 mRNA, partial cds; alternatively spliced.
AF272382 - Homo sapiens clone 1370-39 MLL protein mRNA, partial cds.
FM165198 - Homo sapiens partial mRNA for TET1-MLL fusion transcript in acute lymphoblastic leukemia, patient 4765.
AF422798 - Homo sapiens MLL/LAF4 fusion protein mRNA, partial cds.
AY187921 - Homo sapiens MLL/ENL fusion mRNA, partial sequence.
S67825 - Homo sapiens ALL1-AF4 fusion protein mRNA, partial cds.
FM165195 - Homo sapiens partial mRNA for MLL-ACTN4 fusion transcript in acute lymphoblastic leukemia, patient 3279.
KT444629 - Homo sapiens KMT2A/AFF1 fusion variant 2, mRNA, breakpoint junction region, partial sequence.
AF272377 - Homo sapiens clone 1370-48 MLL protein mRNA, partial cds.
AF272372 - Homo sapiens clone 1373-24 aberrant MLL protein transcript, partial sequence.
AF231996 - Homo sapiens MLL/GAS7 fusion protein (MLL/GAS7) mRNA, partial cds.
AF272375 - Homo sapiens clone 1370-44 MLL/AF-10 fusion protein mRNA, partial cds.
AF297746 - Homo sapiens clone 1426-11 MLL/GMPS fusion protein mRNA, partial cds.
AF272373 - Homo sapiens clone 1373-13 aberrant MLL/ELL fusion protein transcript, partial sequence.
AF272379 - Homo sapiens clone 1370-10 aberrant MLL protein transcript, partial sequence.
AF272370 - Homo sapiens clone 1373-28 MLL protein mRNA, partial cds.
AF231998 - Homo sapiens MLL/GAS7 fusion protein (MLL/GAS7) mRNA, partial cds.
AF231999 - Homo sapiens MLL/GAS7 fusion protein (MLL/GAS7) mRNA, partial cds.
GU353067 - Homo sapiens MLL/BTBD18 fusion protein isoform 1 (MLL/BTBD18 fusion) mRNA, partial cds, alternatively spliced.
JF938535 - Homo sapiens MLL/LOC100131626 fusion gene isoform 1, mRNA sequence.
JF938536 - Homo sapiens MLL/LOC100131626 fusion gene isoform 2, mRNA sequence.
FM165199 - Homo sapiens partial mRNA for MLL-TET1 fusion transcript in acute lymphoblastic leukemia, patient 4765.
MH746808 - Homo sapiens KMT2A/AFF1 fusion protein mRNA, partial cds.
DQ451148 - Homo sapiens MLL-AF4 fusion protein (MLL/AF4 fusion) mRNA, partial cds.
AF272374 - Homo sapiens clone 1523 MLL/ELL fusion protein mRNA, partial cds.
AY187944 - Homo sapiens transcription factor MLL UPN95022 mRNA, partial cds; alternatively spliced.
AF231995 - Homo sapiens MLL/GAS7 fusion protein (MLL/GAS7) mRNA, partial cds.
AY187920 - Homo sapiens MLL/p300 fusion mRNA, partial sequence.
KJ754384 - Homo sapiens MLL/FLNA fusion protein (MLL/FLNA fusion) mRNA, partial cds.
AF272383 - Homo sapiens clone 1568-1 MLL/AF-10 fusion protein mRNA, partial cds.
AF297748 - Homo sapiens MLL/GMPS fusion protein mRNA, partial cds.
AF061154 - Homo sapiens MLL/hCDCrel fusion protein mRNA, partial cds.
DQ387206 - Homo sapiens chromosome der(11) MLL/AF6 fusion protein (MLL/AF6 fusion) mRNA, partial cds.
AF272384 - Homo sapiens clone 1568-2 MLL/AF-10 fusion protein mRNA, partial cds.
AF297749 - Homo sapiens MLL/GMPS fusion protein mRNA, partial cds.
FM165196 - Homo sapiens partial mRNA for MLL-TET1 fusion transcript in acute lymphoblastic leukemia, patient 3811.
FM165194 - Homo sapiens partial mRNA for ACTN4-MLL fusion transcript in acute lymphoblastic leukemia, patient 3279.
S78571 - MLL {14p-18A} [human, mRNA Partial, 114 nt].
MH319861 - Homo sapiens isolate 24 KMT2A-NEBL breakpoint junction mRNA sequence.
MH319862 - Homo sapiens isolate 24 NEBL-KMT2A breakpoint junction mRNA sequence.
MN238629 - Homo sapiens isolate 25037 KMT2A/GAS7 fusion protein (KMT2A/GAS7 fusion) mRNA, partial cds.
MN238630 - Homo sapiens isolate 29804 KMT2A/BTK fusion protein (KMT2A/BTK fusion) mRNA, partial cds.
MN238624 - Homo sapiens isolate 4295 KMT2A/ARHGAP26 fusion protein (KMT2A/ARHGAP26 fusion) mRNA, partial cds.
DQ437655 - Homo sapiens isolate t-137 chromosome der(19) ELL/MLL breakpoint junction mRNA, partial sequence.
DQ299936 - Homo sapiens clone 3300-1 FRYL/MLL breakpoint junction mRNA sequence.
AF487906 - Homo sapiens AF4/MLL fusion protein mRNA, partial cds.
AF373587 - Homo sapiens translocation breakpoint MLLT1/MLL fusion mRNA, partial sequence.
AF492830 - Homo sapiens CDK6/MLL fusion protein mRNA, partial cds.
AK303179 - Homo sapiens cDNA FLJ56868 partial cds, highly similar to Zinc finger protein HRX.
AK295635 - Homo sapiens cDNA FLJ56846 complete cds, highly similar to Zinc finger protein HRX.
BC015388 - Homo sapiens, clone IMAGE:4401491, mRNA.
BC065385 - Homo sapiens cDNA clone IMAGE:6194897, partial cds.
BC039603 - Homo sapiens, clone IMAGE:6062880, mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q03164 (Reactome details) participates in the following event(s):

R-HSA-8865482 KMT2A (MLL) binds RUNX1
R-HSA-8865491 RUNX1:CBFB:KMT2A binds SPI1 (PU.1) gene
R-NUL-8865513 RUNX1 recruits KMT2A to the Spi1 gene
R-HSA-8865498 KMT2A trimethylates nucleosomes at the SPI1 gene locus producing H3K4Me3 mark
R-NUL-8865525 KTM2A trimethylates nucleosomes at the Spi1 gene locus producing H3K4Me3 mark
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-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-74160 Gene expression (Transcription)
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: ALL1, CXXC7, E9PQG7, ENST00000534358.1, ENST00000534358.2, ENST00000534358.3, ENST00000534358.4, ENST00000534358.5, ENST00000534358.6, ENST00000534358.7, HRX, HTRX, KMT2A_HUMAN, MLL, MLL1, NM_001197104, Q03164, Q13743, Q13744, Q14845, Q16364, Q59FF2, Q6UBD1, Q9HBJ3, Q9UD94, Q9UMA3, TRX1, uc324mtn.1, uc324mtn.2
UCSC ID: ENST00000534358.8_10
RefSeq Accession: NM_001197104.2
Protein: Q03164 (aka MLL1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KMT2A:
wiedemann-steiner (Wiedemann-Steiner Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.