Fusion genes
(updated 2016) | AATF (17q12) / AATF (17q12) | AATF (17q12) / BCLAF1 (6q23.3) | AATF (17q12) / GABRR2 (6q15) |
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AATF (17q12) / MPO (17q22) | CMBL (5p15.2) / AATF (17q12) | CPD (17q11.2) / AATF (17q12) |
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HNRNPA2B1 (7p15.2) / AATF (17q12) | MLLT6 (17q12) / AATF (17q12) | NUMA1 (11q13.4) / AATF (17q12) |
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TTLL5 (14q24.3) / AATF (17q12) |
| Note | 561 amino acids long protein contains POLR2J binding site at 273-315 amino acids, RB1 binding site at 316-372 amino acids, RB1 and SP1 binding site at 373-472 amino acids and Glu-rich region at 96-195 amino acids. |
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| Description | AATF was identified as an interacting partner with MAP3K12/DLK which happens to be a protein kinase known to be involved in the induction of cell apoptosis. Its protein contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. |
| Expression | Ubiquitously expressed. Expressed at high levels in brain, heart, kidney, placenta, thymus and moderate levels in blood mononuclear cells. |
| Localisation | Nucleus; nucleolus. |
| Function | It functions as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been described to date. |
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| Entity | Leukemia |
| Note | AATF plays a major role in immortalization of leukemic cells through up-regulation of Bcl2 gene expression. |
| Disease | Haematopoitic malignancies |
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| AATF dependent cross talk between cellular apoptosis and proliferation. |
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| Entity | AIDS |
| Note | HIV-1 encodes a specific miRNA that has the inherent capacity to cleave 12th exon of AATF gene resulting in truncated AATF gene product which is destined to undergo degradation. Down-regulation of AATF gene expression is always accompanied by significant reduction in cell viability and down-regulation of gene coding for dicer which plays a crucial role in providing immunity at the nucleic acid level. |
| Disease | Immunodeficiency, Lymphoadenopathy, Kaposi's sarcoma, AIDS dementia |
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| HIV-1 encoded miRNA dependent AATF gene down-regulation and subsequent cell death. |
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| Che-1 affects cell growth by interfering with the recruitment of HDAC1 by Rb. |
| Bruno T, De Angelis R, De Nicola F, Barbato C, Di Padova M, Corbi N, Libri V, Benassi B, Mattei E, Chersi A, Soddu S, Floridi A, Passananti C, Fanciulli M |
| Cancer cell. 2002 ; 2 (5) : 387-399. |
| PMID 12450794 |
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| TSG101 interacts with apoptosis-antagonizing transcription factor and enhances androgen receptor-mediated transcription by promoting its monoubiquitination. |
| Burgdorf S, Leister P, Scheidtmann KH |
| The Journal of biological chemistry. 2004 ; 279 (17) : 17524-17534. |
| PMID 14761944 |
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| Che-1 arrests human colon carcinoma cell proliferation by displacing HDAC1 from the p21WAF1/CIP1 promoter. |
| Di Padova M, Bruno T, De Nicola F, Iezzi S, D'Angelo C, Gallo R, Nicosia D, Corbi N, Biroccio A, Floridi A, Passananti C, Fanciulli M |
| The Journal of biological chemistry. 2003 ; 278 (38) : 36496-36504. |
| PMID 12847090 |
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| Evidence and Nature of a novel miRNA Encoded by HIV-1. |
| Kaul D, Khanna A, Suman |
| Proc Indian Natn Sci Acad. 1972. |
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| Functional characterization of AATF transcriptome in human leukemic cells. |
| Kaul D, Mehrotra A |
| Molecular and cellular biochemistry. 2007 ; 297 (1-2) : 215-220. |
| PMID 17006618 |
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