Property Summary

NCBI Gene PubMed Count 52
PubMed Score 370.00
PubTator Score 127.18

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.374 1.0e-02
Multiple myeloma 1.089 2.1e-02
psoriasis -3.600 4.3e-06
osteosarcoma -1.426 1.5e-04
chronic lymphosyte leukemia -1.200 2.8e-04
astrocytoma 1.500 5.6e-03
medulloblastoma, large-cell 1.300 1.2e-05
ulcerative colitis -1.026 9.8e-03
lung cancer -1.600 5.9e-03
Multiple Sclerosis 1.100 1.5e-03
sonic hedgehog group medulloblastoma 1.200 2.1e-04
subependymal giant cell astrocytoma 1.472 4.2e-03
lung adenocarcinoma -1.200 1.1e-12
ovarian cancer -2.500 1.2e-10
dermatomyositis 1.300 3.0e-04

Gene RIF (38)

PMID Text
26593443 AF4 bindsto SL1 to initiate MLL fusion- and AEP-dependent transcription.
26329759 AF4 and AF4-MLL mediate transcriptional elongation of 5-lipoxygenase mRNA by 1, 25-dihydroxyvitamin D3.
26007649 HIV-1 Tat transactivation is mediated by the AFF1- super elongation complex and does so more than the AFF4-super elongation complex due to a single amino acid that causes enhancement of Tat for cyclin T1
24843025 HIV-1 Tat transactivation is mediated by the AFF1- super elongation complex and does so more than the AFF4-super elongation complex due to a single amino acid that causes enhancement of Tat for cyclin T1
24565118 HIV-1 Tat transactivation is mediated by the AFF1- super elongation complex and does so more than the AFF4-super elongation complex due to a single amino acid that causes enhancement of Tat for cyclin T1
24367103 AFF1 is a ubiquitous P-TEFb partner; full Tat transactivation requires the complete super elongation complexes
24367103 HIV-1 Tat transactivation is mediated by the AFF1- super elongation complex and does so more than the AFF4-super elongation complex due to a single amino acid that causes enhancement of Tat for cyclin T1
24189350 Report generation of MLL/AF4 transgenic mice with the phenotype of lymphoblastic leukemia or lymphoma.
23518577 HIV-1 Tat transactivation is mediated by the AFF1- super elongation complex and does so more than the AFF4-super elongation complex due to a single amino acid that causes enhancement of Tat for cyclin T1
23479570 The FLT3-mediated inhibition of hematopoiesis in MLL-AF4-expressing human embryonic stem cells is associated with large transcriptional changes and downregulation of genes involved in hematopoietic system development and function.
23260655 The structure of AF9 in complex with elongation factor AF4 reveals that aliphatic residues form an integral part of the hydrophobic core of the complex.
22983539 No association between AFF1 rs340630 and systemic lupus erythmatosus was found.
22567366 HIV-1 Tat transactivation is mediated by the AFF1- super elongation complex and does so more than the AFF4-super elongation complex due to a single amino acid that causes enhancement of Tat for cyclin T1
22355797 HIV-1 Tat transactivation is mediated by the AFF1- super elongation complex and does so more than the AFF4-super elongation complex due to a single amino acid that causes enhancement of Tat for cyclin T1
22337994 our findings show AF4-dependent regulation of CD133 expression, which is required for the growth of acute lymphoblastic leukemia cells
22291604 we identified a novel association of a variant in the AF4/FMR2 family, member 1 (AFF1) gene at 4q21 with Systemic lupus erythematosus susceptibility (rs340630; P = 8.3x10(-9), odds ratio = 1.21
22190034 HIV-1 Tat transactivation is mediated by the AFF1- super elongation complex and does so more than the AFF4-super elongation complex due to a single amino acid that causes enhancement of Tat for cyclin T1
21706045 miR-143 functions as a tumor suppressor in MLL-AF4 B-cell acute lymphoblastic leukemia.
21135858 MLL-AF4 leukemogenesis has been particularly difficult to model and bona fide MLL-AF4 disease models do not exist so far.[review]
21030982 findings suggest that the AF4-MLL protein disturbs the fine-tuned activation cycle of promoter-arrested RNA Pol II and causes altered histone methylation signatures
20864672 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20471949 HIV-1 Tat transactivation is mediated by the AFF1- super elongation complex and does so more than the AFF4-super elongation complex due to a single amino acid that causes enhancement of Tat for cyclin T1
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18977325 Conditional expression of an Mll-AF4 fusion oncogene induces B precursor acute lymphoblastic and acute myeloid leukemias
17889710 analysis of a rare MLL-AF4 (MLL-AFF1) fusion rearrangement in infant leukemia
17581865 demonstrate coimmunoprecipitation of the All1/Af4 and All1/Af9 fusions with Drosha, disrupted by treatment with DNase I
17301807 Gene rearrangement and genetic translocations observed in acute lymphoblastic leukemia.
17130830 presence of both reciprocal MLL fusion proteins confers biological properties known from t(4;11) leukemia
16551973 The early onset of distinct mixed lymphoid/myeloid lineage deregulation in Mll-AF4 knock-in mice shows evidence for both "instructive" and "noninstructive" roles for AF4 and AF9 as partners in MLL fusion genes.
16433901 determination of the relative positions of MLL, AF4 and ENL genes, in two lymphoblastic and two myeloid human cell lines
16386788 The TCR gene rearrangements in childhood B-lineage acute lymphoblastic leukemia was associated with expression of AF4 chimeric oncogene.
16215946 The patients with immunophenotype of Pre-B-acute lymphoblastic leukemia were found to carry: MLL/AF4.
16169901 MLL-AF4 inhibits or activates CDKN1B expression.
15221006 role of interaction with SIAH1 and SIAH2 proteins in t(4,11) pathobiology
14990976 the cell cycle control exerted by MLL-AF4 may be responsible of resistance to cell-death promoting stimuli in leukemia carrying the t(4;11) translocation.
14562113 lack of HOX gene expression in acute lymphoblastic leukemia B-cells was not due to a nonfunctional MLL/AF4

AA Sequence

MAAQSSLYNDDRNLLRIREKERRNQEAHQEKEAFPEKIPLFGEPYKTAKGDELSSRIQNMLGNYEEVKEF      1 - 70
LSTKSHTHRLDASENRLGKPKYPLIPDKGSSIPSSSFHTSVHHQSIHTPASGPLSVGNISHNPKMAQPRT     71 - 140
EPMPSLHAKSCGPPDSQHLTQDRLGQEGFGSSHHKKGDRRADGDHCASVTDSAPERELSPLISLPSPVPP    141 - 210
LSPIHSNQQTLPRTQGSSKVHGSSNNSKGYCPAKSPKDLAVKVHDKETPQDSLVAPAQPPSQTFPPPSLP    211 - 280
SKSVAMQQKPTAYVRPMDGQDQAPSESPELKPLPEDYRQQTFEKTDLKVPAKAKLTKLKMPSQSVEQTYS    281 - 350
NEVHCVEEILKEMTHSWPPPLTAIHTPSTAEPSKFPFPTKDSQHVSSVTQNQKQYDTSSKTHSNSQQGTS    351 - 420
SMLEDDLQLSDSEDSDSEQTPEKPPSSSAPPSAPQSLPEPVASAHSSSAESESTSDSDSSSDSESESSSS    421 - 490
DSEENEPLETPAPEPEPPTTNKWQLDNWLTKVSQPAAPPEGPRSTEPPRRHPESKGSSDSATSQEHSESK    491 - 560
DPPPKSSSKAPRAPPEAPHPGKRSCQKSPAQQEPPQRQTVGTKQPKKPVKASARAGSRTSLQGEREPGLL    561 - 630
PYGSRDQTSKDKPKVKTKGRPRAAASNEPKPAVPPSSEKKKHKSSLPAPSKALSGPEPAKDNVEDRTPEH    631 - 700
FALVPLTESQGPPHSGSGSRTSGCRQAVVVQEDSRKDRLPLPLRDTKLLSPLRDTPPPQSLMVKITLDLL    701 - 770
SRIPQPPGKGSRQRKAEDKQPPAGKKHSSEKRSSDSSSKLAKKRKGEAERDCDNKKIRLEKEIKSQSSSS    771 - 840
SSSHKESSKTKPSRPSSQSSKKEMLPPPPVSSSSQKPAKPALKRSRREADTCGQDPPKSASSTKSNHKDS    841 - 910
SIPKQRRVEGKGSRSSSEHKGSSGDTANPFPVPSLPNGNSKPGKPQVKFDKQQADLHMREAKKMKQKAEL    911 - 980
MTDRVGKAFKYLEAVLSFIECGIATESESQSSKSAYSVYSETVDLIKFIMSLKSFSDATAPTQEKIFAVL    981 - 1050
CMRCQSILNMAMFRCKKDIAIKYSRTLNKHFESSSKVAQAPSPCIASTGTPSPLSPMPSPASSVGSQSSA   1051 - 1120
GSVGSSGVAATISTPVTIQNMTSSYVTITSHVLTAFDLWEQAEALTRKNKEFFARLSTNVCTLALNSSLV   1121 - 1190
DLVHYTRQGFQQLQELTKTP                                                     1191 - 1210
//

Text Mined References (64)

PMID Year Title
26593443 2015 AF4 uses the SL1 components of RNAP1 machinery to initiate MLL fusion- and AEP-dependent transcription.
26329759 2015 AF4 and AF4-MLL mediate transcriptional elongation of 5-lipoxygenase mRNA by 1, 25-dihydroxyvitamin D3.
24735925 2014 Proteasome inhibitors evoke latent tumor suppression programs in pro-B MLL leukemias through MLL-AF4.
24367103 2014 AFF1 is a ubiquitous P-TEFb partner to enable Tat extraction of P-TEFb from 7SK snRNP and formation of SECs for HIV transactivation.
24189350 2013 Establishment of MLL/AF4 transgenic mice with the phenotype of lymphoblastic leukemia or lymphoma.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23568457 2013 Genetic variants associated with disordered eating.
23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
23479570 2013 FLT3 activation cooperates with MLL-AF4 fusion protein to abrogate the hematopoietic specification of human ESCs.
23260655 2013 Leukemia fusion target AF9 is an intrinsically disordered transcriptional regulator that recruits multiple partners via coupled folding and binding.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22983539 2012 Association of AFF1 rs340630 and AFF3 rs10865035 polymorphisms with systemic lupus erythematosus in a Chinese population.
22895430 2012 The super elongation complex (SEC) family in transcriptional control.
22337994 2012 The mixed lineage leukemia (MLL) fusion-associated gene AF4 promotes CD133 transcription.
22291604 2012 A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese.
22195968 2011 The little elongation complex regulates small nuclear RNA transcription.
22190034 2011 Global landscape of HIV-human protein complexes.
21706045 2012 Methylation-mediated repression of microRNA-143 enhances MLL-AF4 oncogene expression.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21135858 2011 Insights into the cellular origin and etiology of the infant pro-B acute lymphoblastic leukemia with MLL-AF4 rearrangement.
21030982 2011 The leukemogenic AF4-MLL fusion protein causes P-TEFb kinase activation and altered epigenetic signatures.
20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19369195 2009 Large-scale proteomics analysis of the human kinome.
18977325 2008 H3K79 methylation profiles define murine and human MLL-AF4 leukemias.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17889710 2007 Molecular characterization of a rare MLL-AF4 (MLL-AFF1) fusion rearrangement in infant leukemia.
17581865 2007 Oncogenic All1 fusion proteins target Drosha-mediated microRNA processing.
17301807 2007 Age-related differences in leukemia biology and prognosis: the paradigm of MLL-AF4-positive acute lymphoblastic leukemia.
17130830 2007 Combined effects of the two reciprocal t(4;11) fusion proteins MLL.AF4 and AF4.MLL confer resistance to apoptosis, cell cycling capacity and growth transformation.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16551973 2006 A murine Mll-AF4 knock-in model results in lymphoid and myeloid deregulation and hematologic malignancy.
16433901 2006 Simultaneous localization of MLL, AF4 and ENL genes in interphase nuclei by 3D-FISH: MLL translocation revisited.
16386788 2006 The incidence of T-cell receptor gene rearrangements in childhood B-lineage acute lymphoblastic leukemia is related to immunophenotype and fusion oncogene expression.
16215946 2005 [Detection of fusion genes resulting from chromosome abnormalities in childhood acute lymphoblastic leukemia].
16169901 2005 The MLL fusion gene, MLL-AF4, regulates cyclin-dependent kinase inhibitor CDKN1B (p27kip1) expression.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15231748 2004 Functional proteomics mapping of a human signaling pathway.
15221006 2004 Interaction of AF4 wild-type and AF4.MLL fusion protein with SIAH proteins: indication for t(4;11) pathobiology?
14990976 2004 Modulation of cell cycle by graded expression of MLL-AF4 fusion oncoprotein.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14562113 2003 B-cell development in the presence of the MLL/AF4 oncoprotein proceeds in the absence of HOX A7 and HOX A9 expression.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11930009 2002 Panhandle and reverse-panhandle PCR enable cloning of der(11) and der(other) genomic breakpoint junctions of MLL translocations and identify complex translocation of MLL, AF-4, and CDK6.
11236948 2001 Rapid isolation of chromosomal breakpoints from patients with t(4;11) acute lymphoblastic leukemia: implications for basic and clinical research.
10671636 1999 Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints.
9880680 1998 cDNA cloning, expression and chromosomal localization of the murine AF-4 gene involved in human leukemia.
9389682 1997 Panhandle polymerase chain reaction amplifies MLL genomic translocation breakpoint involving unknown partner gene.
9326653 1997 Panhandle PCR strategy to amplify MLL genomic breakpoints in treatment-related leukemias.
9233580 1997 Exon/intron structure of the human AF-4 gene, a member of the AF-4/LAF-4/FMR-2 gene family coding for a nuclear protein with structural alterations in acute leukaemia.
8769569 1996 AF4/FEL, a gene involved in infant leukemia: sequence variations, gene structure, and possible homology with a genomic sequence on 5q31.
8506309 1993 Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs.
8443374 1993 A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias.
8353274 1993 The chromosome 4q21 gene (AF-4/FEL) is widely expressed in normal tissues and shows breakpoint diversity in t(4;11)(q21;q23) acute leukemia.
7689231 1993 Acute mixed-lineage leukemia t(4;11)(q21;q23) generates an MLL-AF4 fusion product.
1423625 1992 The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene.