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    AFF4 ALF transcription elongation factor 4 [ Homo sapiens (human) ]

    Gene ID: 27125, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    N6-methyladenosine-modified circCDK14 promotes ossification of the ligamentum flavum via epigenetic modulation by targeting AFF4.

    N6-methyladenosine-modified circCDK14 promotes ossification of the ligamentum flavum via epigenetic modulation by targeting AFF4.
    Zhao Y, Chen L, Xiang Q, Lin J, Jiang S, Li W., Free PMC Article

    10/25/2024
    Distinct roles of two SEC scaffold proteins, AFF1 and AFF4, in regulating RNA polymerase II transcription elongation.

    Distinct roles of two SEC scaffold proteins, AFF1 and AFF4, in regulating RNA polymerase II transcription elongation.
    Che Z, Liu X, Dai Q, Fang K, Guo C, Yue J, Fang H, Xie P, Luo Z, Lin C., Free PMC Article

    09/4/2024
    The Biological Significance of AFF4: Promoting Transcription Elongation, Osteogenic Differentiation and Tumor Progression.

    The Biological Significance of AFF4: Promoting Transcription Elongation, Osteogenic Differentiation and Tumor Progression.
    Long Q, Xiang M, Xiao L, Wang J, Guan X, Liu J, Liao C.

    07/26/2024
    AFF4 regulates osteogenic potential of human periodontal ligament stem cells via mTOR-ULK1-autophagy axis.

    AFF4 regulates osteogenic potential of human periodontal ligament stem cells via mTOR-ULK1-autophagy axis.
    Zhu L, Wang J, Wu Z, Chen S, He Y, Jiang Y, Luo G, Wu Z, Li Y, Xie J, Zou S, Zhou C., Free PMC Article

    02/15/2024
    AFF4 globally affects the release of paused RNA polymerase II in HEL cells.

    AFF4 globally affects the release of paused RNA polymerase II in HEL cells.
    Yang ZM, Zhang G, Wei G, Jing LL, Yu M.

    08/30/2023
    AFF4 facilitates melanoma cell progression by regulating c-Jun activity.

    AFF4 facilitates melanoma cell progression by regulating c-Jun activity.
    Hu H, Zhang Y, Zhao L, Zhao W, Wang X, Ye E, Dong Y, Zhang L, Ran F, Zhou Y, Huang Y.

    06/12/2021
    Super Elongation Complex as a Targetable Dependency in Diffuse Midline Glioma.

    Super Elongation Complex as a Targetable Dependency in Diffuse Midline Glioma.
    Dahl NA, Danis E, Balakrishnan I, Wang D, Pierce A, Walker FM, Gilani A, Serkova NJ, Madhavan K, Fosmire S, Green AL, Foreman NK, Venkataraman S, Vibhakar R.

    05/1/2021
    AFF4 enhances odontogenic differentiation of human dental pulp cells.

    AFF4 enhances odontogenic differentiation of human dental pulp cells.
    Zhang Y, Xiao Q, Wu Z, Xu R, Zou S, Zhou C.

    11/21/2020
    AFF4 regulates osteogenic differentiation of human dental follicle cells.

    AFF4 regulates osteogenic differentiation of human dental follicle cells.
    Xiao Q, Zhang Y, Qi X, Chen Y, Sheng R, Xu R, Yuan Q, Zhou C., Free PMC Article

    09/19/2020
    Clinical and molecular spectrum of CHOPS syndrome due to AFF4 mutations has been reported.

    Clinical and molecular spectrum of CHOPS syndrome.
    Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K., Free PMC Article

    06/13/2020
    The structure of the conserved AFF protein provides C-terminal homology domain and the molecular basis for the homo- and heterodimerization of AFF proteins. In addition, our data implicate the AFF4-CHD in nucleic acid interactions and identified a conserved loop region as a phosphorylation site for P-TEFb.

    Structure of the super-elongation complex subunit AFF4 C-terminal homology domain reveals requirements for AFF homo- and heterodimerization.
    Chen Y, Cramer P., Free PMC Article

    03/14/2020
    AFF4 is functionally important target gene of METTL3 in bladder cancer.

    The m(6)A methyltransferase METTL3 promotes bladder cancer progression via AFF4/NF-κB/MYC signaling network.
    Cheng M, Sheng L, Gao Q, Xiong Q, Zhang H, Wu M, Liang Y, Zhu F, Zhang Y, Zhang X, Yuan Q, Li Y.

    10/26/2019
    Overexpression of SOX2 rescued the inhibited proliferation, migration, invasion and ALDH activity induced by knockdown of AFF4 in HNSCC cells.

    AFF4 promotes tumorigenesis and tumor-initiation capacity of head and neck squamous cell carcinoma cells by regulating SOX2.
    Deng P, Wang J, Zhang X, Wu X, Ji N, Li J, Zhou M, Jiang L, Zeng X, Chen Q., Free PMC Article

    02/2/2019
    Study reports the 2.0-A resolution crystal structure of the human ELL2 C-terminal domain bound to its 50-residue binding site on AFF4, the ELLBow. The ELLBow consists of an N-terminal helix followed by an extended hairpin and occupies most of the concave surface of ELL2. This surface is important for the ability of ELL2 to promote HIV-1 Tat-mediated proviral transcription.

    Structural basis for ELL2 and AFF4 activation of HIV-1 proviral transcription.
    Qi S, Li Z, Schulze-Gahmen U, Stjepanovic G, Zhou Q, Hurley JH., Free PMC Article

    11/24/2018
    The TAR central loop contacts the CycT1 Tat-TAR recognition motif (TRM) and the second Tat Zn(2+)-binding loop. Hydrogen-deuterium exchange (HDX) shows that AFF4 helix 2 is stabilized in the TAR complex despite not touching the RNA, explaining how it enhances TAR binding to the SEC 50-fold.

    Insights into HIV-1 proviral transcription from integrative structure and dynamics of the Tat:AFF4:P-TEFb:TAR complex.
    Schulze-Gahmen U, Echeverria I, Stjepanovic G, Bai Y, Lu H, Schneidman-Duhovny D, Doudna JA, Zhou Q, Sali A, Hurley JH., Free PMC Article

    11/26/2017
    AFF4 is positioned to make unexpected direct contacts with HIV Tat, and Tat enhances P-TEFb/CCNT1 affinity for AFF4.

    The AFF4 scaffold binds human P-TEFb adjacent to HIV Tat.
    Schulze-Gahmen U, Upton H, Birnberg A, Bao K, Chou S, Krogan NJ, Zhou Q, Alber T., Free PMC Article

    04/16/2016
    missense mutations in AFF4 in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that was named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia)

    Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
    Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID., Free PMC Article

    08/1/2015
    HIV-1 Tat recruits transcription elongation factors dispersed along a flexible AFF4 scaffold.

    HIV-1 Tat recruits transcription elongation factors dispersed along a flexible AFF4 scaffold.
    Chou S, Upton H, Bao K, Schulze-Gahmen U, Samelson AJ, He N, Nowak A, Lu H, Krogan NJ, Zhou Q, Alber T., Free PMC Article

    03/9/2013
    overexpression of AFF2/3/4 interferes with the organization and/or biogenesis of nuclear speckles.

    Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.
    Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gecz J, Bardoni B.

    08/13/2011
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Through the bridging functions of Tat and AFF4, P-TEFb and ELL2 combine to form a bifunctional elongation complex that greatly activates HIV-1 transcription.

    HIV-1 Tat and host AFF4 recruit two transcription elongation factors into a bifunctional complex for coordinated activation of HIV-1 transcription.
    He N, Liu M, Hsu J, Xue Y, Chou S, Burlingame A, Krogan NJ, Alber T, Zhou Q., Free PMC Article

    06/14/2010
    AFF4 is required for super elongation complex stability and proper transcription by poised RNA polymerase II.

    AFF4, a component of the ELL/P-TEFb elongation complex and a shared subunit of MLL chimeras, can link transcription elongation to leukemia.
    Lin C, Smith ER, Takahashi H, Lai KC, Martin-Brown S, Florens L, Washburn MP, Conaway JW, Conaway RC, Shilatifard A., Free PMC Article

    04/12/2010
    MCEF has 21 exons & 7 nuclear localization sequence. 3 protein sequences, coded by 3 exons, mediate nuclear localization. Ectopic expression of MCEF repressed HIV-1 LTR-directed RNA polymerase II transcription, at the level of Tat-transactivation.

    MCEF is localized to the nucleus by protein sequences encoded within three distinct exons, where it represses HIV-1 Tat-transactivation of LTR-directed transcription.
    Niedzielski MF, Hopewell R, Ismail Z, Estable MC., Free PMC Article

    01/21/2010
    Data describe the cloning and expression of MCEF, a member of the AF4 family of transcription factors involved in acute lymphoblastic leukemia. [MCEF]

    MCEF, the newest member of the AF4 family of transcription factors involved in leukemia, is a positive transcription elongation factor-b-associated protein.
    Estable MC, Naghavi MH, Kato H, Xiao H, Qin J, Vahlne A, Roeder RG.

    07/9/2003
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