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    PHF1 PHD finger protein 1 [ Homo sapiens (human) ]

    Gene ID: 5252, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion.

    When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion.
    Sharma AE, Dermawan JK, Sherrod AE, Chopra S, Maki RG, Antonescu CR.,

    01/9/2024
    A PHF1-TFE3 fusion atypical ossifying fibromyxoid tumor with prominent collagenous rosettes: Case report with a brief review.

    A PHF1-TFE3 fusion atypical ossifying fibromyxoid tumor with prominent collagenous rosettes: Case report with a brief review.
    Zou C, Ru GQ, Zhao M.

    12/25/2021
    Primary malignant ossifying fibromyxoid tumour of the bone. A clinicopathologic and molecular report of two cases.

    Primary malignant ossifying fibromyxoid tumour of the bone. A clinicopathologic and molecular report of two cases.
    Sbaraglia M, Bellan E, Gambarotti M, Righi A, Zanatta L, Toffolatti L, Dei Tos AP., Free PMC Article

    10/9/2021
    PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells.

    PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells.
    Hofvander J, Jo VY, Fletcher CDM, Puls F, Flucke U, Nilsson J, Magnusson L, Mertens F.

    07/10/2021
    A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review.

    A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review.
    Han L, Liu YJ, Ricciotti RW, Mantilla JG.

    02/6/2021
    PHF1 promotes cell proliferation, invasion, and tumorigenesis in vivo and in vitro and its expression is markedly upregulated in a variety of human cancers

    PHD finger protein 1 (PHF1) is a novel reader for histone H4R3 symmetric dimethylation and coordinates with PRMT5-WDR77/CRL4B complex to promote tumorigenesis.
    Liu R, Gao J, Yang Y, Qiu R, Zheng Y, Huang W, Zeng Y, Hou Y, Wang S, Leng S, Feng D, Yu W, Sun G, Shi H, Teng X, Wang Y., Free PMC Article

    08/10/2019
    the increase of DNA accessibility within the H3K36me3-containing nucleosome, instigated by the Tudor domain of PHF1 binding to H3K36me3, is dramatically enhanced by the PHF1 N-terminal domain.

    PHF1 Tudor and N-terminal domains synergistically target partially unwrapped nucleosomes to increase DNA accessibility.
    Gibson MD, Gatchalian J, Slater A, Kutateladze TG, Poirier MG., Free PMC Article

    10/7/2017
    ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant ossifying fibromyxoid tumors.

    Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.
    Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD, Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD., Free PMC Articles: PMC4053209, PMC4053209

    05/8/2017
    the F61L/S86F mutant of MTF2 Tudor-PHD1 was able to bind to H3K36me3 as strong as the PHF1 Tudor bound to this PTM . We concluded that the hydrophobic patch plays an essential role in binding of these Tudors to methylated chromatin

    An aromatic cage is required but not sufficient for binding of Tudor domains of the Polycomblike protein family to H3K36me3.
    Gatchalian J, Kingsley MC, Moslet SD, Rosas Ospina RD, Kutateladze TG., Free PMC Article

    03/12/2016
    PCL1 binds to and stabilizes p53 to induce cellular quiescence

    A chromatin-independent role of Polycomb-like 1 to stabilize p53 and promote cellular quiescence.
    Brien GL, Healy E, Jerman E, Conway E, Fadda E, O'Donovan D, Krivtsov AV, Rice AM, Kearney CJ, Flaus A, McDade SS, Martin SJ, McLysaght A, O'Connell DJ, Armstrong SA, Bracken AP., Free PMC Article

    02/27/2016
    full-length PHF1 in HEK293 cells co-localizes with histone K27me3, but not with K36me3, and this co-localization depends on the trimethyllysine binding pocket indicating that K27me3 is an in vivo target for the PHF1 Tudor domain

    The Tudor domain of the PHD finger protein 1 is a dual reader of lysine trimethylation at lysine 36 of histone H3 and lysine 27 of histone variant H3t.
    Kycia I, Kudithipudi S, Tamas R, Kungulovski G, Dhayalan A, Jeltsch A.

    06/14/2014
    present two more ESS with MEAF6/PHF1 detected by transcriptome sequencing (case 1) and RT-PCR (case 2), proving that this fusion is recurrent in ESS

    MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma.
    Micci F, Gorunova L, Gatius S, Matias-Guiu X, Davidson B, Heim S, Panagopoulos I.

    05/24/2014
    ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant OFMT.

    Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.
    Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD, Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD., Free PMC Articles: PMC4053209, PMC4053209

    05/17/2014
    Underscore the likely importance of PHF1 rearrangements in the pathogenesis of ossifying fibromyxoid tumors of soft parts.

    PHF1 rearrangements in ossifying fibromyxoid tumors of soft parts: A fluorescence in situ hybridization study of 41 cases with emphasis on the malignant variant.
    Graham RP, Weiss SW, Sukov WR, Goldblum JR, Billings SD, Dotlic S, Folpe AL.

    12/14/2013
    PHF1b may be a molecular transducer of GABA A receptor function and thus GABA-mediated neurotransmission in the central nervous system.

    Polycomblike protein PHF1b: a transcriptional sensor for GABA receptor activity.
    Saha S, Hu Y, Martin SC, Bandyopadhyay S, Russek SJ, Farb DH., Free PMC Article

    12/7/2013
    Morphological features, immunoprofile and fluorescence in situ hybridization rearrangements of JAZF1 and PHF1 genes were correlated with tumor category and outcome in endometrial sarcomas

    Endometrial sarcomas: an immunohistochemical and JAZF1 re-arrangement study in low-grade and undifferentiated tumors.
    Jakate K, Azimi F, Ali RH, Lee CH, Clarke BA, Rasty G, Shaw PA, Melnyk N, Huntsman DG, Laframboise S, Rouzbahman M.

    07/27/2013
    The histone H3K36me3 binding by the Tudor domains of PHF1, PHF19 and likely MTF2 provide another recruitment and regulatory mechanism for the PRC2 complex.

    Tudor domains of the PRC2 components PHF1 and PHF19 selectively bind to histone H3K36me3.
    Qin S, Guo Y, Xu C, Bian C, Fu M, Gong S, Min J.

    06/29/2013
    All endometrial stromal sarcomas showing sex cords had PHF1 genetic rearrangement, suggesting that such rearrangements may induce sex cord differentiation.

    Endometrial stromal sarcomas with sex cord differentiation are associated with PHF1 rearrangement.
    D'Angelo E, Ali RH, Espinosa I, Lee CH, Huntsman DG, Gilks B, Prat J.

    05/11/2013
    Polycomb group protein PHF1 regulates p53-dependent cell growth arrest and apoptosis

    Polycomb group protein PHF1 regulates p53-dependent cell growth arrest and apoptosis.
    Yang Y, Wang C, Zhang P, Gao K, Wang D, Yu H, Zhang T, Jiang S, Hexige S, Hong Z, Yasui A, Liu JO, Huang H, Yu L., Free PMC Article

    03/2/2013
    findings suggest that PHF1 can mediate deposition of the repressive H3K27me3 mark and acts as a cofactor in early DNA-damage response

    Molecular basis for H3K36me3 recognition by the Tudor domain of PHF1.
    Musselman CA, Avvakumov N, Watanabe R, Abraham CG, Lalonde ME, Hong Z, Allen C, Roy S, Nuñez JK, Nickoloff J, Kulesza CA, Yasui A, Côté J, Kutateladze TG., Free PMC Article

    02/9/2013
    findings show that the interaction of Phf19 with H3K36me2 and H3K36me3 is essential for PRC2 complex activity and for proper regulation of gene repression in embryonic stem cells

    Phf19 links methylated Lys36 of histone H3 to regulation of Polycomb activity.
    Ballaré C, Lange M, Lapinaite A, Martin GM, Morey L, Pascual G, Liefke R, Simon B, Shi Y, Gozani O, Carlomagno T, Benitah SA, Di Croce L., Free PMC Article

    02/9/2013
    The PHF1 gene, previously shown to be the 3'-partner of fusion genes in endometrial stromal tumors, is also recurrently involved in the pathogenesis of ossifying fibromyxoid tumors.

    Recurrent rearrangement of the PHF1 gene in ossifying fibromyxoid tumors.
    Gebre-Medhin S, Nord KH, Möller E, Mandahl N, Magnusson L, Nilsson J, Jo VY, Vult von Steyern F, Brosjö O, Larsson O, Domanski HA, Sciot R, Debiec-Rychter M, Fletcher CD, Mertens F.

    11/17/2012
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
    Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM, Criswell LA.

    Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
    Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC.

    03/25/2009
    predicted 684-amino acid JAZF1/PHF1 chimeric protein retained one zinc finger domain from JAZF1 and the two zinc finger domains from PHF1, and its oncogenic mechanism should be similar to that of the JAZF1/SUZ12 protein

    An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera.
    Panagopoulos I, Mertens F, Griffin CA.

    01/21/2010
    PHF1 interacts physically with Ku70/Ku80, suggesting that PHF1 promotes nonhomologous end-joining processes.

    A polycomb group protein, PHF1, is involved in the response to DNA double-strand breaks in human cell.
    Hong Z, Jiang J, Lan L, Nakajima S, Kanno S, Koseki H, Yasui A., Free PMC Article

    01/21/2010
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