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    KAT6A lysine acetyltransferase 6A [ Homo sapiens (human) ]

    Gene ID: 7994, updated on 11-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.

    KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
    Singh M, Spendlove SJ, Wei A, Bondhus LM, Nava AA, de L Vitorino FN, Amano S, Lee J, Echeverria G, Gomez D, Garcia BA, Arboleda VA., Free PMC Article

    11/30/2023
    MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain.

    MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain.
    Becht DC, Klein BJ, Kanai A, Jang SM, Cox KL, Zhou BR, Phanor SK, Zhang Y, Chen RW, Ebmeier CC, Lachance C, Galloy M, Fradet-Turcotte A, Bulyk ML, Bai Y, Poirier MG, Côté J, Yokoyama A, Kutateladze TG., Free PMC Article

    02/13/2023
    The histone acetyltransferase KAT6A is recruited to unmethylated CpG islands via a DNA binding winged helix domain.

    The histone acetyltransferase KAT6A is recruited to unmethylated CpG islands via a DNA binding winged helix domain.
    Weber LM, Jia Y, Stielow B, Gisselbrecht SS, Cao Y, Ren Y, Rohner I, King J, Rothman E, Fischer S, Simon C, Forné I, Nist A, Stiewe T, Bulyk ML, Wang Z, Liefke R., Free PMC Article

    02/4/2023
    The Expression of Histone Acetyltransferase KAT6A in Non-small Cell Lung Cancer.

    The Expression of Histone Acetyltransferase KAT6A in Non-small Cell Lung Cancer.
    Partynska A, Piotrowska A, Pawelczyk K, Rzechonek A, Ratajczak-Wielgomas K, Podhorska-Okolow M, Dziegiel P.

    12/10/2022
    Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.

    Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.
    St John M, Amor DJ, Morgan AT.

    11/19/2022
    miR-339-3p inhibits cell growth and epithelial-mesenchymal transition in nasopharyngeal carcinoma by modulating the KAT6A/TRIM24 axis.

    miR-339-3p inhibits cell growth and epithelial-mesenchymal transition in nasopharyngeal carcinoma by modulating the KAT6A/TRIM24 axis.
    Gao P, Zhao K, Lu W, Wang L, Zhang P.

    11/5/2022
    Matrix stiffness-induced upregulation of histone acetyltransferase KAT6A promotes hepatocellular carcinoma progression through regulating SOX2 expression.

    Matrix stiffness-induced upregulation of histone acetyltransferase KAT6A promotes hepatocellular carcinoma progression through regulating SOX2 expression.
    Zhao W, Mo H, Liu R, Chen T, Yang N, Liu Z., Free PMC Article

    07/23/2022
    KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs.

    KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs.
    Yan F, Li J, Milosevic J, Petroni R, Liu S, Shi Z, Yuan S, Reynaga JM, Qi Y, Rico J, Yu S, Liu Y, Rokudai S, Palmisiano N, Meyer SE, Sung PJ, Wan L, Lan F, Garcia BA, Stanger BZ, Sykes DB, Blanco MA., Free PMC Article

    04/30/2022
    Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.

    Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
    Troisi S, Maitz S, Severino M, Spano A, Cappuccio G, Brunetti-Pierri N, Torella A, Nigro V, Tudp, Bilo L, Coppola A.

    03/12/2022
    KAT6A Acetylation of SMAD3 Regulates Myeloid-Derived Suppressor Cell Recruitment, Metastasis, and Immunotherapy in Triple-Negative Breast Cancer.

    KAT6A Acetylation of SMAD3 Regulates Myeloid-Derived Suppressor Cell Recruitment, Metastasis, and Immunotherapy in Triple-Negative Breast Cancer.
    Yu B, Luo F, Sun B, Liu W, Shi Q, Cheng SY, Chen C, Chen G, Li Y, Feng H., Free PMC Article

    02/26/2022
    KAT6A is associated with sorafenib resistance and contributes to progression of hepatocellular carcinoma by targeting YAP.

    KAT6A is associated with sorafenib resistance and contributes to progression of hepatocellular carcinoma by targeting YAP.
    Jin Y, Yang R, Ding J, Zhu F, Zhu C, Xu Q, Cai J.

    01/8/2022
    Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

    Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).
    Kaur S, Van Bergen NJ, Ben-Zeev B, Leonardi E, Tan TY, Coman D, Kamien B, White SM, St John M, Phelan D, Rigbye K, Lim SC, Torres MC, Marty M, Savva E, Zhao T, Massey S, Murgia A, Gold WA, Christodoulou J.

    08/14/2021
    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
    Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, Balcells S., Free PMC Article

    08/7/2021
    KAT6A, a novel regulator of beta-catenin, promotes tumorigenicity and chemoresistance in ovarian cancer by acetylating COP1.

    KAT6A, a novel regulator of β-catenin, promotes tumorigenicity and chemoresistance in ovarian cancer by acetylating COP1.
    Liu W, Zhan Z, Zhang M, Sun B, Shi Q, Luo F, Zhang M, Zhang W, Hou Y, Xiao X, Li Y, Feng H., Free PMC Article

    07/31/2021
    Acute Monoblastic Leukemia with Erythrophagocytosis and Absence of KAT6A Rearrangement

    Acute Monoblastic Leukemia with Erythrophagocytosis and Absence of KAT6A Rearrangement.
    Sánchez CM, de Castro DR, de Viñaspre AVG, Zilaurren AU, Abad AM, de Castro JMG., Free PMC Article

    07/31/2021
    Long non-coding RNA DANCR promotes colorectal tumor growth by binding to lysine acetyltransferase 6A.

    Long non-coding RNA DANCR promotes colorectal tumor growth by binding to lysine acetyltransferase 6A.
    Lian J, Zhang H, Wei F, Li Q, Lu Y, Yu B, Yu L, Liang X, Wen Y, Jin K, Tang J, Xie W.

    06/12/2021
    KAT6A amplifications are associated with shorter progression-free survival and overall survival in patients with endometrial serous carcinoma.

    KAT6A amplifications are associated with shorter progression-free survival and overall survival in patients with endometrial serous carcinoma.
    Saglam O, Tang Z, Tang G, Medeiros LJ, Toruner GA., Free PMC Article

    10/31/2020
    Report renal cell carcinomas with NEAT1-TFE3 and KAT6A-TFE3 gene fusions.

    NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma.
    Pei J, Cooper H, Flieder DB, Talarchek JN, Al-Saleem T, Uzzo RG, Dulaimi E, Patchefsky AS, Testa JR, Wei S., Free PMC Article

    05/2/2020
    Our data expand the genotypic and phenotypic spectrum for individuals with genetic pathogenic variants in KAT6A and we outline appropriate clinical management.

    KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
    Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, DDD Study,, Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R., Free PMC Article

    06/22/2019
    the first inherited variant in KAT6A and suggest missense variants in KAT6A to be associated with an inheritable, milder clinical presentation compared to previously reported de novo, truncating mutations in this gene.

    A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.
    Trinh J, Hüning I, Yüksel Z, Baalmann N, Imhoff S, Klein C, Rolfs A, Gillessen-Kaesbach G, Lohmann K.

    12/22/2018
    Overexpression of KAT6A or TRIM24 promoted PIK3CA expression, AKT phosphorylation, and cell proliferation.

    Histone Acetyltransferase KAT6A Upregulates PI3K/AKT Signaling through TRIM24 Binding.
    Lv D, Jia F, Hou Y, Sang Y, Alvarez AA, Zhang W, Gao WQ, Hu B, Cheng SY, Ge J, Li Y, Feng H., Free PMC Article

    12/16/2017
    Given the similar findings in animal models and our patient's phenotypes, we hypothesize that KAT6A could play a role in development of the brain, face, and heart in humans

    Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
    Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S.

    10/28/2017
    MYST3 binds to the proximal promoter region of ERalpha gene, and inactivating mutations in its HAT domain abolished its ability to regulate ERalpha, suggesting MYST3 functioning as a histone acetyltransferase that activates ERalpha promoter.

    Identification of MYST3 as a novel epigenetic activator of ERα frequently amplified in breast cancer.
    Yu L, Liang Y, Cao X, Wang X, Gao H, Lin SY, Schiff R, Wang XS, Li K., Free PMC Article

    09/16/2017
    Studies show that misregulation of MOZ/MORF results in tumorigenesis and developmental disorders. Results also provide evidence that these 2 proteins play important role in regulating cell proliferation and stem cell maintenance. [review]

    Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human Disease.
    Huang F, Abmayr SM, Workman JL., Free PMC Article

    05/20/2017
    The demonstrate that the histone acetylation-binding double PHD finger (DPF) domains of human MOZ (also known as KAT6A) and DPF2 (also known as BAF45d) accommodate a wide range of histone lysine acylation with the strongest preference for propionylation (Kcr).

    Selective recognition of histone crotonylation by double PHD fingers of MOZ and DPF2.
    Xiong X, Panchenko T, Yang S, Zhao S, Yan P, Zhang W, Xie W, Li Y, Zhao Y, Allis CD, Li H., Free PMC Article

    05/13/2017
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