Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MLLT3 Gene

Aliases for MLLT3 Gene

  • MLLT3, Super Elongation Complex Subunit 2 3 5
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Translocated To Chromosome 3 Protein 3 4
  • ALL1-Fused Gene From Chromosome 9 Protein 3 4
  • YEATS Domain-Containing Protein 3 3 4
  • YEATS3 3 4
  • AF9 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila); Translocated To, 3 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog); Translocated To, 3 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia; Translocated To, 3 2
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia; Translocated To 3 3
  • Protein AF-9 3

External Ids for MLLT3 Gene

Previous GeneCards Identifiers for MLLT3 Gene

  • GC09M020675
  • GC09M020533

Summaries for MLLT3 Gene

GeneCards Summary for MLLT3 Gene

MLLT3 (MLLT3, Super Elongation Complex Subunit) is a Protein Coding gene. Diseases associated with MLLT3 include Acute Myeloid Leukemia With T(9;11)(P22;Q23) and Neonatal Leukemia. Among its related pathways are Formation of HIV-1 elongation complex containing HIV-1 Tat and Transcriptional misregulation in cancer. An important paralog of this gene is MLLT1.

UniProtKB/Swiss-Prot for MLLT3 Gene

  • Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948, PubMed:25417107, PubMed:27105114, PubMed:27545619). Specifically recognizes and binds acylated histone H3, with a marked preference for histone H3 that is crotonylated (PubMed:25417107, PubMed:27105114, PubMed:27545619). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25417107, PubMed:27105114, PubMed:27545619). Recognizes and binds histone H3 crotonylated at Lys-9 (H3K9cr), and with slightly lower affinity histone H3 crotonylated at Lys-18 (H3K18cr) (PubMed:27105114). Also recognizes and binds histone H3 acetylated at Lys-9 (H3K9ac), but with lower affinity than crotonylated histone H3 (PubMed:25417107, PubMed:27105114). In the SEC complex, MLLT3 is required to recruit the complex to crotonylated histones (PubMed:27105114, PubMed:27545619).

Gene Wiki entry for MLLT3 Gene

Additional gene information for MLLT3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLLT3 Gene

Genomics for MLLT3 Gene

GeneHancer (GH) Regulatory Elements for MLLT3 Gene

Promoters and enhancers for MLLT3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J020619 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 656.4 +0.1 141 5.3 HDGF PKNOX1 ARID4B SIN3A YBX1 FEZF1 ZNF2 YY1 ZNF213 ZNF207 MLLT3 KLHL9 FOCAD IFNA20P RPL7AP48
GH09J020593 Enhancer 0.5 ENCODE 33.4 +29.1 29078 0.9 ZNF121 PRDM6 NFYB ZNF580 CEBPB MLLT3 RPL7AP48
GH09J020550 Enhancer 1.2 FANTOM5 Ensembl ENCODE 13.6 +70.8 70824 1.8 MZF1 STAT5A ZNF384 BATF IRF4 ZNF335 ZNF121 GATA3 ZSCAN5C FOSL2 MLLT3 RPL7AP48
GH09J020610 Enhancer 1.1 Ensembl ENCODE 12.9 +11.0 10979 2.1 PKNOX1 FOXA2 ARNT NEUROD1 SIN3A FEZF1 ZNF2 BRCA1 RFX5 ZNF366 MLLT3 FOCAD RPL7AP48
GH09J020353 Enhancer 1.1 Ensembl ENCODE 11.5 +267.2 267156 4.3 PKNOX1 FOXA2 ARID4B MZF1 FEZF1 BATF ZNF48 RAD21 YY1 ZNF366 MLLT3 GC09M020330 MIR4473
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLLT3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MLLT3 gene promoter:
  • MEF-2A
  • aMEF-2
  • RSRFC4
  • SRF
  • SRF (504 AA)
  • C/EBPalpha
  • AREB6
  • POU2F1
  • POU2F1a
  • POU2F1b

Genomic Locations for MLLT3 Gene

Genomic Locations for MLLT3 Gene
chr9:20,341,665-20,622,543
(GRCh38/hg38)
Size:
280,879 bases
Orientation:
Minus strand
chr9:20,341,663-20,622,542
(GRCh37/hg19)
Size:
280,880 bases
Orientation:
Minus strand

Genomic View for MLLT3 Gene

Genes around MLLT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLLT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLLT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLLT3 Gene

Proteins for MLLT3 Gene

  • Protein details for MLLT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42568-AF9_HUMAN
    Recommended name:
    Protein AF-9
    Protein Accession:
    P42568
    Secondary Accessions:
    • B1AMQ2
    • B2R7B3
    • B7Z755
    • D3DRJ8
    • Q8IVB0

    Protein attributes for MLLT3 Gene

    Size:
    568 amino acids
    Molecular mass:
    63351 Da
    Quaternary structure:
    • Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3) (PubMed:20159561, PubMed:20471948, PubMed:22195968, PubMed:23260655, PubMed:25417107). Interacts with BCOR (PubMed:10898795). Interacts with CBX8 (PubMed:11313972). Interacts with ALKBH4 (PubMed:23145062).

    Three dimensional structures from OCA and Proteopedia for MLLT3 Gene

    Alternative splice isoforms for MLLT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLLT3 Gene

Post-translational modifications for MLLT3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MLLT3 Gene

No data available for DME Specific Peptides for MLLT3 Gene

Domains & Families for MLLT3 Gene

Gene Families for MLLT3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MLLT3 Gene

Blocks:
InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P42568

UniProtKB/Swiss-Prot:

AF9_HUMAN :
  • The YEATS domain specifically recognizes and binds acylated histones, with a marked preference histones that are crotonylated (PubMed:27105114, PubMed:27545619). Also binds histone H3 acetylated at Lys-9 (H3K9ac), but with lower affinity (PubMed:25417107, PubMed:27105114).
Domain:
  • The YEATS domain specifically recognizes and binds acylated histones, with a marked preference histones that are crotonylated (PubMed:27105114, PubMed:27545619). Also binds histone H3 acetylated at Lys-9 (H3K9ac), but with lower affinity (PubMed:25417107, PubMed:27105114).
genes like me logo Genes that share domains with MLLT3: view

Function for MLLT3 Gene

Molecular function for MLLT3 Gene

UniProtKB/Swiss-Prot Function:
Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948, PubMed:25417107, PubMed:27105114, PubMed:27545619). Specifically recognizes and binds acylated histone H3, with a marked preference for histone H3 that is crotonylated (PubMed:25417107, PubMed:27105114, PubMed:27545619). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25417107, PubMed:27105114, PubMed:27545619). Recognizes and binds histone H3 crotonylated at Lys-9 (H3K9cr), and with slightly lower affinity histone H3 crotonylated at Lys-18 (H3K18cr) (PubMed:27105114). Also recognizes and binds histone H3 acetylated at Lys-9 (H3K9ac), but with lower affinity than crotonylated histone H3 (PubMed:25417107, PubMed:27105114). In the SEC complex, MLLT3 is required to recruit the complex to crotonylated histones (PubMed:27105114, PubMed:27545619).
GENATLAS Biochemistry:
AF-9 protein,fused with HRX (MLL),in acute myeloid/lymphoid,monoblastic leukemia with granulocytic sarcomas mixed-lineage leukemia,with translocation t(9;11)(p22;q23)

Phenotypes From GWAS Catalog for MLLT3 Gene

Gene Ontology (GO) - Molecular Function for MLLT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0003682 chromatin binding IDA 25417107
GO:0005515 protein binding IPI 16189514
GO:0042393 histone binding IDA 27105114
GO:0070577 lysine-acetylated histone binding IDA 25417107
genes like me logo Genes that share ontologies with MLLT3: view
genes like me logo Genes that share phenotypes with MLLT3: view

Animal Models for MLLT3 Gene

MGI Knock Outs for MLLT3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLLT3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MLLT3 Gene

Localization for MLLT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLLT3 Gene

Nucleus. Chromosome. Note=Colocalizes with acylated histone H3 (PubMed:25417107, PubMed:27105114). Colocalizes with histone H3 crotonylated at Lys-18 (H3K18cr) (PubMed:27105114). {ECO:0000269 PubMed:25417107, ECO:0000269 PubMed:27105114}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MLLT3 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MLLT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 8506309
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0008023 transcription elongation factor complex IDA 22195968
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with MLLT3: view

Pathways & Interactions for MLLT3 Gene

genes like me logo Genes that share pathways with MLLT3: view

Gene Ontology (GO) - Biological Process for MLLT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with MLLT3: view

No data available for SIGNOR curated interactions for MLLT3 Gene

Drugs & Compounds for MLLT3 Gene

(2) Drugs for MLLT3 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2906
Montelukast Approved Pharma Antagonist 280
genes like me logo Genes that share compounds with MLLT3: view

Transcripts for MLLT3 Gene

mRNA/cDNA for MLLT3 Gene

Unigene Clusters for MLLT3 Gene

Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLLT3

Alternative Splicing Database (ASD) splice patterns (SP) for MLLT3 Gene

No ASD Table

Relevant External Links for MLLT3 Gene

GeneLoc Exon Structure for
MLLT3
ECgene alternative splicing isoforms for
MLLT3

Expression for MLLT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MLLT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MLLT3 Gene

This gene is overexpressed in Fetal Brain (62.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MLLT3 Gene



Protein tissue co-expression partners for MLLT3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MLLT3 Gene:

MLLT3

SOURCE GeneReport for Unigene cluster for MLLT3 Gene:

Hs.591085

Evidence on tissue expression from TISSUES for MLLT3 Gene

  • Nervous system(4.8)
  • Bone marrow(2.3)
genes like me logo Genes that share expression patterns with MLLT3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MLLT3 Gene

Orthologs for MLLT3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MLLT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLLT3 34 33
  • 98.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MLLT3 34 33
  • 96.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MLLT3 34 33
  • 95.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mllt3 16 34 33
  • 92.9 (n)
oppossum
(Monodelphis domestica)
Mammalia MLLT3 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLLT3 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLLT3 34 33
  • 81.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLLT3 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC549668 33
  • 81.86 (n)
Str.17600 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25397 33
zebrafish
(Danio rerio)
Actinopterygii mllt3 34
  • 65 (a)
OneToOne
wufc39c11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7087 33
fruit fly
(Drosophila melanogaster)
Insecta ear 34 35
  • 15 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF14 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2675 34
  • 39 (a)
OneToMany
Species where no ortholog for MLLT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MLLT3 Gene

ENSEMBL:
Gene Tree for MLLT3 (if available)
TreeFam:
Gene Tree for MLLT3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MLLT3: view image

Paralogs for MLLT3 Gene

Paralogs for MLLT3 Gene

(4) SIMAP similar genes for MLLT3 Gene using alignment to 5 proteins:

  • AF9_HUMAN
  • B1APT5_HUMAN
  • B1APT6_HUMAN
  • B7Z755_HUMAN
  • Q8IVB0_HUMAN
genes like me logo Genes that share paralogs with MLLT3: view

Variants for MLLT3 Gene

Sequence variations from dbSNP and Humsavar for MLLT3 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000014419 -- 20,619,530(-) A/C intron_variant
rs1000015841 -- 20,563,294(-) A/C intron_variant
rs1000026164 -- 20,599,336(-) G/A intron_variant
rs1000041636 -- 20,593,431(-) A/G intron_variant
rs1000045910 -- 20,554,060(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MLLT3 Gene

Variant ID Type Subtype PubMed ID
esv2564686 CNV deletion 19546169
esv3305610 CNV mobile element insertion 20981092
esv3373954 CNV insertion 20981092
esv3576640 CNV gain 25503493
esv3576641 CNV gain 25503493
esv3576642 CNV gain 25503493
esv3619929 CNV loss 21293372
esv3619930 CNV loss 21293372
esv3619931 CNV loss 21293372
esv3619933 CNV loss 21293372
esv3619935 CNV loss 21293372
nsv1023995 CNV gain 25217958
nsv1075611 CNV deletion 25765185
nsv1140961 CNV deletion 24896259
nsv466290 CNV loss 19166990
nsv473550 CNV novel sequence insertion 20440878
nsv613745 CNV loss 21841781
nsv613746 CNV loss 21841781
nsv950844 CNV duplication 24416366
nsv950845 CNV duplication 24416366
nsv982200 CNV duplication 23825009

Variation tolerance for MLLT3 Gene

Residual Variation Intolerance Score: 13.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLLT3 Gene

Human Gene Mutation Database (HGMD)
MLLT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MLLT3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLLT3 Gene

Disorders for MLLT3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MLLT3 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acute myeloid leukemia with t(9;11)(p22;q23)
  • aml with t(9;11)(p22;q23)
neonatal leukemia
leukemia
childhood leukemia
acute leukemia
  • stem cell leukaemia
- elite association - COSMIC cancer census association via MalaCards
Search MLLT3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AF9_HUMAN
  • Note=A chromosomal aberration involving MLLT3 is associated with acute leukemias. Translocation t(9;11)(p22;q23) with KMT2A/MLL1. The result is a rogue activator protein. {ECO:0000269 PubMed:10861294, ECO:0000269 PubMed:8506309}.
  • Note=A chromosomal aberration involving MLLT3 was observed in a patient with neuromotor development delay, cerebellar ataxia and epilepsy. Translocation t(4;9)(q35;p22). {ECO:0000269 PubMed:16001262}.

Additional Disease Information for MLLT3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MLLT3: view

No data available for Genatlas for MLLT3 Gene

Publications for MLLT3 Gene

  1. Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. (PMID: 8506309) Nakamura T … Nowell PC (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 22 58
  2. Structural Insights into Histone Crotonyl-Lysine Recognition by the AF9 YEATS Domain. (PMID: 27545619) Zhang Q … Zhou MM (Structure (London, England : 1993) 2016) 3 4 58
  3. Molecular Coupling of Histone Crotonylation and Active Transcription by AF9 YEATS Domain. (PMID: 27105114) Li Y … Li H (Molecular cell 2016) 3 4 58
  4. AF9 YEATS domain links histone acetylation to DOT1L-mediated H3K79 methylation. (PMID: 25417107) Li Y … Shi X (Cell 2014) 3 4 58
  5. Leukemia fusion target AF9 is an intrinsically disordered transcriptional regulator that recruits multiple partners via coupled folding and binding. (PMID: 23260655) Leach BI … Bushweller JH (Structure (London, England : 1993) 2013) 3 4 58

Products for MLLT3 Gene

Sources for MLLT3 Gene

Content
Loading form....