Summary

Name MLL-AF9
Primary ID SIGNOR-FP5
Type Fusion Protein
Formed by Q03164, P42568
Description Till date, there have been more than 50 fusion gene partners reported for MLL. The translocation t(9;11)(p22;q23) is mainly associated with acute myeloid leukemias and fuses AF9 to MLL suggesting a role for AF9 in myeloid diseas. Through a series of experimental studies it was observed that MLL-AF9 alters myeloid progenitor cells and suppresses specific HOX gene In wylde type conditions, both MLL and AF9(also known as MLLT3) play a crucial role in hematopoiesis/embryogenesis process, and are components of protein complexes resulting in target gene transcriptional initiation (MLL) and elongation (AF9). Therefore it is hypothesized that MLL-AF9 fusion combines these characteristics, resulting in increased activation of target genes which may be interrupt hematopoietic cell differentiation and ultimately leads to aberrant cell proliferation and to leukemogenesis. The MLL-AF9 fusion gene is associated with de novo acute myelogenous leukemia (AML),rarely with acute lymphocytic leukemia (ALL) and with theraphy related leukemia (t-AML).
Sequence
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSASSSSSSSSSASSGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPRSGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKIKKLRAGKLSPLKSKFKTGKLQIGRKGVQIVRRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRIIPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSRFSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGSRTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPASTAPMQGKRKSILREPTFRWTSLKHSRSEPQYFSSAKYAKEGLIRKPIFDNFRPPPLTPEDVGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSNRTSAGTSSSGVSNRKRKRKVFSPIRSEPRSPSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPSHSLTQSGESAEKNQRPRKQTSAPAEPFSSSSPTPLFPWFTPGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQSSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKILIKKGRGNLEKTNLDLGPTAPSLEKEKTLCLSTPSSSTVKHSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPKAQGQESDSSETSVRGPRIKHVCRRAAVALGRKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKAPQEPPVKKGRRSRRCGQCPGCQVPEDCGVCTNCLDKPKFGGRNIKKQCCKMRKCQNLQWMPSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSEPPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPRPSIPVKQKPKEKEKPPPVNKQENAGTLNILSTLSNGNSSKQKIPADLEVKSPIKQSKSDKQIKNGECDKAYLDELVELHRRLMTLRERHILQQIVNLIEETGHFHITNTTFDFDLCSL
Relations 10
Pathways Acute Myeloid Leukemia, MLL fusion protein in AML

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Relations

Regulator Mechanism target score
+ up-regulates activity img/direct-activation.png binding BCOR 0.2
Publications: 1 Organism: Mus Musculus
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
+ up-regulates quantity by expression img/direct-activation.png methylation MECOM 0.2
Publications: 1 Organism: Mus Musculus
Pathways:Acute Myeloid Leukemia, MLL fusion protein in AML
+ up-regulates activity img/direct-activation.png binding MLL-AF9 0.2
Publications: 1 Organism: Mus Musculus
Pathways:Acute Myeloid Leukemia, MLL fusion protein in AML
+ down-regulates quantity by repression img/indirect_inhibition.png transcriptional regulation CBFB 0.2
Publications: 1 Organism: Homo Sapiens
+ down-regulates quantity by repression img/indirect_inhibition.png transcriptional regulation Core Binding Factor complex 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
+ down-regulates quantity by repression img/indirect_inhibition.png transcriptional regulation miR-495 0.4
Publications: 1 Organism: Homo Sapiens
+ 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