Human Gene MLLT3 (ENST00000380338.9_10) from GENCODE V47lift37
  Description: MLLT3 super elongation complex subunit, transcript variant 1 (from RefSeq NM_004529.4)
Gencode Transcript: ENST00000380338.9_10
Gencode Gene: ENSG00000171843.17_12
Transcript (Including UTRs)
   Position: hg19 chr9:20,341,667-20,622,498 Size: 280,832 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr9:20,346,441-20,622,255 Size: 275,815 Coding Exon Count: 11 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:20,341,667-20,622,498)mRNA (may differ from genome)Protein (568 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AF9_HUMAN
DESCRIPTION: RecName: Full=Protein AF-9; AltName: Full=ALL1-fused gene from chromosome 9 protein; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein; AltName: Full=YEATS domain-containing protein 3;
SUBUNIT: Interacts with BCOR. Interacts with CBX8.
INTERACTION: Q9UHB7:AFF4; NbExp=4; IntAct=EBI-716132, EBI-395282;
SUBCELLULAR LOCATION: Nucleus (By similarity).
DISEASE: Note=A chromosomal aberration involving MLLT3 is associated with acute leukemias. Translocation t(9;11)(p22;q23) with MLL/HRX. The result is a rogue activator protein.
SIMILARITY: Contains 1 YEATS domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AF9.html";

-  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: MLLT3
Diseases sorted by gene-association score: acute myeloid leukemia with t(9;11)(p22;q23)* (350), myeloid/lymphoid or mixed lineage leukemia (22), leukemia (8), neonatal leukemia (8), acute monocytic leukemia (7), childhood leukemia (6), acute leukemia (5), leukemia, acute myeloid (1)
* = 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: 8.61 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 107.80 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 -94.80243-0.390 Picture PostScript Text
3' UTR -1141.204774-0.239 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
IPR005033 - YEATS

Pfam Domains:
PF03366 - YEATS family
PF17793 - ANC1 homology domain (AHD)

ModBase Predicted Comparative 3D Structure on P42568
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    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0042393 histone binding
GO:0070577 lysine-acetylated histone binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0007379 segment specification
GO:0009952 anterior/posterior pattern specification
GO:0045893 positive regulation of transcription, DNA-templated
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:2000096 positive regulation of Wnt signaling pathway, planar cell polarity pathway

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0008023 transcription elongation factor complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  L13744 - Human AF-9 mRNA, complete cds.
BX649194 - Homo sapiens mRNA; cDNA DKFZp686D09204 (from clone DKFZp686D09204).
AK301474 - Homo sapiens cDNA FLJ53222 complete cds, highly similar to Protein AF-9.
BC036089 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3, mRNA (cDNA clone MGC:33789 IMAGE:5298142), complete cds.
AK225957 - Homo sapiens mRNA for myeloid/lymphoid or mixed-lineage leukemia variant, clone: FCC114E07.
AK297587 - Homo sapiens cDNA FLJ58676 complete cds, highly similar to Protein AF-9.
AK312914 - Homo sapiens cDNA, FLJ93363, highly similar to Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.
JF432808 - Synthetic construct Homo sapiens clone IMAGE:100074126 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3) gene, encodes complete protein.
KJ897192 - Synthetic construct Homo sapiens clone ccsbBroadEn_06586 MLLT3 gene, encodes complete protein.
KU178189 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia; translocated to 3 isoform 1 (MLLT3) mRNA, partial cds.
KU178190 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia; translocated to 3 isoform 3 (MLLT3) mRNA, complete cds, alternatively spliced.
AB463323 - Synthetic construct DNA, clone: pF1KB8734, Homo sapiens MLLT3 gene for trithorax homolog, without stop codon, in Flexi system.
BC030550 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3, mRNA (cDNA clone IMAGE:5212069), containing frame-shift errors.
CU690292 - Synthetic construct Homo sapiens gateway clone IMAGE:100019887 5' read MLLT3 mRNA.
JD565885 - Sequence 546909 from Patent EP1572962.
JD510796 - Sequence 491820 from Patent EP1572962.
JD320417 - Sequence 301441 from Patent EP1572962.
JD508203 - Sequence 489227 from Patent EP1572962.
JD288797 - Sequence 269821 from Patent EP1572962.
JD272218 - Sequence 253242 from Patent EP1572962.
D16688 - Homo sapiens mRNA for LTG9/MLLT3 protein, partial cds.
JD510234 - Sequence 491258 from Patent EP1572962.
JD090626 - Sequence 71650 from Patent EP1572962.
JD047050 - Sequence 28074 from Patent EP1572962.
JD459893 - Sequence 440917 from Patent EP1572962.
JD069610 - Sequence 50634 from Patent EP1572962.
JD267082 - Sequence 248106 from Patent EP1572962.
JD502712 - Sequence 483736 from Patent EP1572962.
JD262571 - Sequence 243595 from Patent EP1572962.
JD322738 - Sequence 303762 from Patent EP1572962.
EF406122 - Homo sapiens MLL/AF9 translocation breakpoint junction sequence.
JD371454 - Sequence 352478 from Patent EP1572962.
MN238625 - Homo sapiens isolate 5989 KMT2A/MLLT3 fusion protein (KMT2A/MLLT3 fusion) mRNA, partial cds.
AK128222 - Homo sapiens cDNA FLJ46355 fis, clone TESTI4049110.
JD068375 - Sequence 49399 from Patent EP1572962.
JD478328 - Sequence 459352 from Patent EP1572962.
JD127196 - Sequence 108220 from Patent EP1572962.
JD520328 - Sequence 501352 from Patent EP1572962.
JD314278 - Sequence 295302 from Patent EP1572962.

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

Protein P42568 (Reactome details) participates in the following event(s):

R-HSA-112381 Hyperphosphorylation (Ser2) of RNA Pol II CTD by P-TEFb complex
R-HSA-113429 Elongating transcript encounters a lesion in the template
R-HSA-112379 Recruitment of elongation factors to form elongation complex
R-HSA-113411 2-4 nt.backtracking of Pol II complex on the template leading to elongation pausing
R-HSA-113412 Pol II elongation complex moves on the template as transcript elongates
R-HSA-113414 7-14 nt. Backtracking of Pol II complex on the template leading to elongation arrest
R-HSA-112385 Addition of nucleotides leads to transcript elongation
R-HSA-112392 Resumption of elongation after recovery from pausing
R-HSA-113413 TFIIS-mediated recovery of elongation from arrest
R-HSA-112395 Abortive termination of elongation after arrest
R-HSA-112396 Separation of elongating transcript from template
R-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: AF9 , AF9_HUMAN, B1AMQ2, B2R7B3, B7Z755, D3DRJ8, ENST00000380338.1, ENST00000380338.2, ENST00000380338.3, ENST00000380338.4, ENST00000380338.5, ENST00000380338.6, ENST00000380338.7, ENST00000380338.8, MLLT3 , NM_004529, P42568, Q8IVB0, uc318pnn.1, uc318pnn.2, YEATS3
UCSC ID: ENST00000380338.9_10
RefSeq Accession: NM_004529.4
Protein: P42568 (aka AF9_HUMAN)

-  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.