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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 Myeloid/Lymphoid Or Mixed Lineage Leukemia. Among its related pathways are Transcriptional misregulation in cancer and Formation of HIV elongation complex in the absence of HIV Tat. An important paralog of this gene is MLLT1.

UniProtKB/Swiss-Prot for MLLT3 Gene

  • 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.

Gene Wiki entry for MLLT3 Gene

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

Genomics for MLLT3 Gene

Regulatory Elements for MLLT3 Gene

Enhancers for MLLT3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F020550 1.3 FANTOM5 Ensembl ENCODE 13.6 +70.8 70843 1.8 ZNF384 ZNF335 ZNF121 GATA3 ETV6 PRDM10 MAFK ZNF362 MTA2 CHD1 MLLT3 RPL7AP48
GH09F020593 0.5 ENCODE 33.4 +29.1 29078 0.9 ZNF121 NFYB CEBPB ZNF580 MLLT3 RPL7AP48
GH09F020610 1.1 Ensembl ENCODE 12.9 +11.0 10979 2.1 PKNOX1 SIN3A FEZF1 BRCA1 ZNF2 RFX5 ZNF366 RCOR1 FOS CEBPB MLLT3 FOCAD RPL7AP48
GH09F020353 1.2 Ensembl ENCODE 11.5 +267.1 267143 4.4 PKNOX1 ARID4B FEZF1 RAD21 ZNF48 YY1 ZNF366 CREM DEK EGR2 MLLT3 GC09M020330 MIR4473
GH09F020557 1 Ensembl ENCODE 12.2 +63.7 63692 1.9 ZFP64 EBF1 ZIC2 ZNF600 FOS PRDM10 MAFK ZBTB20 USF2 ZEB2 MLLT3 FOCAD MIR491 RPL7AP48
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MLLT3 on UCSC Golden Path with GeneCards custom track

Promoters for MLLT3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001301200 143 5600 HDGF PKNOX1 WRNIP1 ZNF133 ARID4B SIN3A FEZF1 YBX1 ZNF2 YY1

Genomic Location for MLLT3 Gene

Chromosome:
9
Start:
20,341,665 bp from pter
End:
20,622,543 bp from pter
Size:
280,879 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). Interacts with BCOR. Interacts with ALKBH4 and CBX8.

    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

Protein Domains for MLLT3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P42568

UniProtKB/Swiss-Prot:

AF9_HUMAN :
  • Contains 1 YEATS domain.
Domain:
  • Contains 1 YEATS domain.
genes like me logo Genes that share domains with MLLT3: view

Function for MLLT3 Gene

Molecular function for MLLT3 Gene

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)
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for MLLT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MLLT3

Flow Cytometry Products

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.

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

Gene Ontology (GO) - Cellular Components for MLLT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 8506309
GO:0008023 transcription elongation factor complex IDA 22195968
GO:0070062 extracellular exosome IDA 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:0007379 segment specification IEA --
GO:0009952 anterior/posterior pattern specification IEA --
GO:0090090 negative regulation of canonical Wnt signaling pathway IGI 19591803
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 2690
Montelukast Approved Pharma Antagonist 266
genes like me logo Genes that share compounds with MLLT3: view

Transcripts for MLLT3 Gene

Unigene Clusters for MLLT3 Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MLLT3

Flow Cytometry Products

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 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, PaxDb, 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
genes like me logo Genes that share expression patterns with MLLT3: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 98.94 (n)
dog
(Canis familiaris)
Mammalia MLLT3 34 35
  • 96.06 (n)
cow
(Bos Taurus)
Mammalia MLLT3 34 35
  • 95.41 (n)
mouse
(Mus musculus)
Mammalia Mllt3 34 16 35
  • 92.9 (n)
oppossum
(Monodelphis domestica)
Mammalia MLLT3 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLLT3 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLLT3 34 35
  • 81.17 (n)
lizard
(Anolis carolinensis)
Reptilia MLLT3 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC549668 34
  • 81.86 (n)
Str.17600 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25397 34
zebrafish
(Danio rerio)
Actinopterygii mllt3 35
  • 65 (a)
OneToOne
wufc39c11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7087 34
fruit fly
(Drosophila melanogaster)
Insecta ear 36 35
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF14 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2675 35
  • 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)

Paralogs for MLLT3 Gene

Paralogs for MLLT3 Gene

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

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 Sequence Context AA Info Type
rs10046877 -- 20,517,596(+) CTTTG(G/T)GAGGC intron-variant
rs10114034 -- 20,520,821(+) TAGCA(A/G)AGTGT intron-variant
rs10114678 -- 20,521,027(+) TTTTT(A/T)AATTT intron-variant
rs10115102 -- 20,546,888(+) ACTGC(A/G)TGCCT intron-variant
rs10115725 -- 20,610,477(+) GAGGT(A/G)CAGAA intron-variant

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

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

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)

Relevant External Links for MLLT3 Gene

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

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

Disorders for MLLT3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MLLT3 Gene - From: 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)
myeloid/lymphoid or mixed lineage leukemia
  • mll
leukemia
neonatal leukemia
acute monocytic leukemia
  • acute monoblastic leukemia and acute monocytic leukemia
- 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.

Relevant External Links for MLLT3

Genetic Association Database (GAD)
MLLT3
Human Genome Epidemiology (HuGE) Navigator
MLLT3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MLLT3
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. … Canaani E. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 22 64
  2. Leukemia fusion target AF9 is an intrinsically disordered transcriptional regulator that recruits multiple partners via coupled folding and binding. (PMID: 23260655) Leach B.I. … Bushweller J.H. (Structure 2013) 3 4 64
  3. The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith E.R. … Shilatifard A. (Mol. Cell 2011) 3 4 64
  4. Hsp90 directly modulates the spatial distribution of AF9/MLLT3 and affects target gene expression. (PMID: 20159978) Lin J.J. … Hemenway C.S. (J. Biol. Chem. 2010) 3 22 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for MLLT3 Gene

Sources for MLLT3 Gene

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