Summary

Name MLL-ENL
Primary ID SIGNOR-FP7
Type Fusion Protein
Formed by Q03111, Q03164
Description The MLL–ENL fusion protein results from a t(11;19)(q23;p13.3) translocation and constitutes one of the three most frequently found fusions in leukemia cases with an involvement of MLL. This protein is comprised of the N-terminal half of the histone-lysine N-methyltransferase MLL protein, including the AT hook DNA binding domain and the DNA methyltransferase domain, fused to almost the entire protein ENL. Protein ENL is a protein that in humans is encoded by the MLLT1 gene and it’s a 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. MLL–ENL is found equally likely in both myeloid or a lymphoid/mixed-lineage phenotype.
Sequence
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSASSSSSSSSSASSGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPRSGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKIKKLRAGKLSPLKSKFKTGKLQIGRKGVQIVRRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRIIPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSRFSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGSRTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPASTAPMQGKRKSILREPTFRWTSLKHSRSEPQYFSSAKYAKEGLIRKPIFDNFRPPPLTPEDVGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSNRTSAGTSSSGVSNRKRKRKVFSPIRSEPRSPSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPSHSLTQSGESAEKNQRPRKQTSAPAEPFSSSSPTPLFPWFTPGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQSSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKILIKKGRGNLEKTNLDLGPTAPSLEKEKTLCLSTPSSSTVKHSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPKAQGQESDSSETSVRGPRIKHVCRRAAVALGRKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKAPQEPPVKKGRRSRRCGQCPGCQVPEDCGVCTNCLDKPKFGGRNIKKQCCKMRKCQNLQWMPSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSEPPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPRPSIPVKQKPKEKEKPPPVNKQENAGTLNILSTLSNGNSSKQKIPADCTVQVRLELGHRAQLRKKPTTEGFTHDWMVFVRGPEQCDIQHFVEKVVFWLHDSFPKPRRVCKEPPYKVEESGYAGFIMPIEVHFKNKEEPRKVCFTYDLFLNLEGNPPVNHLRCEKLTFNNPTTEFRYKLLRAGGVMVMPEGADTVSRPSPDYPMLPTIPLSAFSDPKKTKPSHGSKDANKESSKTSKPHKVTKEHRERPRKDSESKSSSKELEREQAKSSKDTSRKLGEGRLPKEEKAPPPKAAFKEPKMALKETKLESTSPKGGPPPPPPPPPRASSKRPATADSPKPSAKKQKKSSSKGSRSAPGTSPRTSSSSSFSDKKPAKDKSSTRGEKVKAESEPREAKKALEVEESNSEDEASFKSESAQSSPSNSSSSSDSSSDSDFEPSQNHSQGPLRSMVEDLQSEESDEDDSSSGEEAAGKTNPGRDSRLSFSDSESDNSADSSLPSREPPPPQKPPPPNSKVSGRRSPESCSKPEKILKKGTYDKAYTDELVELHRRLMALRERNVLQQIVNLIEETGHFNVTNTTFDFDLFSLDETTVRKLQSCLEAVAT
Relations 10
Pathways Acute Myeloid Leukemia, MLL fusion protein in AML

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Relations

Regulator Mechanism target score
+ down-regulates quantity by repression img/indirect_inhibition.png transcriptional regulation Core Binding Factor complex 0.2
Publications: 1 Organism: Homo Sapiens
+ up-regulates quantity by expression img/indirect-activation.png transcriptional regulation HOXA9 0.2
Publications: 1 Organism: Homo Sapiens
Pathways:Acute Myeloid Leukemia, MLL fusion protein in AML
+ up-regulates activity img/direct-activation.png binding MLL-ENL 0.2
Publications: 1 Organism: Mus Musculus
Pathways:Acute Myeloid Leukemia, MLL fusion protein in AML
+ up-regulates quantity by expression img/indirect-activation.png transcriptional regulation MEIS1 0.2
Publications: 1 Organism: Homo Sapiens
Pathways:Acute Myeloid Leukemia, MLL fusion protein in AML
+ down-regulates quantity by repression img/indirect_inhibition.png transcriptional regulation RUNX1 0.2
Publications: 2 Organism: Homo Sapiens
Pathways:Acute Myeloid Leukemia, miRNA in AML, MLL fusion protein in AML
+ down-regulates quantity by repression img/indirect_inhibition.png transcriptional regulation CBFB 0.2
Publications: 1 Organism: Homo Sapiens
+ up-regulates activity img/direct-activation.png binding DOT1L 0.2
Publications: 1 Organism: Mus Musculus
Pathways:Acute Myeloid Leukemia, MLL fusion protein in AML
+ up-regulates activity img/direct-activation.png binding AEP complex 0.2
Publications: 1 Organism: Homo Sapiens
Pathways:Acute Myeloid Leukemia, MLL fusion protein in AML
+ down-regulates quantity by repression img/indirect_inhibition.png transcriptional regulation miR-495 0.4
Publications: 1 Organism: Homo Sapiens