Recombinant Human Histone acetyltransferase KAT6A (KAT6A), partial

1. 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. PMID: 29899504
2. Overexpression of KAT6A or TRIM24 promoted PIK3CA expression, AKT phosphorylation, and cell proliferation. PMID: 29021135
3. 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 PMID: 27133397
4. 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. PMID: 27893709
5. 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] PMID: 27185879
6. 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). PMID: 27775714
7. In this study we report the frequency of FGFR1 and KAT6A involvement in patients with hematological malignancies and 8p11 abnormalities. PMID: 26667788
8. These data suggest that KAT6A may be a novel oncogene in breast cancers bearing the 8p11-p12 amplicon. PMID: 25220592
9. findings establish that MOZ and BMI1 play opposing roles during the onset of Hox gene expression in the ES cell model and during body segment identity specification in vivo. PMID: 25922517
10. We have identified KAT6A mutations as a frequent cause of syndromic developmental delay with microcephaly and dysmorphic features. PMID: 25728775
11. Heterozygous truncating mutations in KAT6A, as well as deletions of the same locus, cause a syndrome characterized by intellectual disability, craniosynostosis, cardiac defects, feeding difficulties, and distinct facial features. PMID: 25728777
12. The double PHD finger domain of MOZ/MYST3 induces alpha-helical structure of the histone H3 tail to facilitate acetylation and methylation sampling and modification. PMID: 24150941
13. Symplekin interacts and co-localizes with both MOZ and MLL in immature hematopoietic cells. Its inhibition leads to a decrease of the HOXA9 protein level but not of Hoxa9 mRNA. PMID: 23994619
14. Studies indicate the critical function of MOZ (MYST3 or KAT6A(1)) in haematopoiesis. PMID: 23347099
15. MYST3-CREBBP rearrangement harbors a distinctive microRNA signature targeting RET proto-oncogene in acute myeloid leukemia with translocation (8;16)(p11;p13). PMID: 23022987
16. MOZ is an acetyltransferase of p53 at K120 and K382 and colocalizes with p53 in promyelocytic leukemia (PML) nuclear bodies following cellular stress. PMID: 23431171
17. These data suggest that the tandem of plant homeodomain 1/2 fingers play a role in MOZ and MORF histone acetyltransferase association with histon H3 regions enriched in acetylated marks. PMID: 23063713
18. PHD12 facilitates the localization of MOZ onto the promoter locus of the HOXA9 gene, thereby promoting the H3 acetylation around the promoter region. PMID: 22713874
19. Recognition of unmodified histone H3 by the first PHD finger of bromodomain-PHD finger protein 2 provides insights into the regulation of histone acetyltransferases monocytic leukemic zinc-finger protein (MOZ) and MOZ-related factor (MORF). PMID: 21880731
20. The role of the interaction between MOZ and MLL in CD34+ cells in which both proteins have a critical role in hematopoietic cell-fate decision. PMID: 20581860
21. MOZ-TIF2 oncogenic fusion protein suppresses transcription by nuclear receptors and p53 PMID: 15657427
22. MOZ complexes with TIF2 as a recombinant fusion protein which induces acute myelocytic leukemia. PMID: 12676584
23. MOZ-TIF2 associates with the RARbeta2 promoter in vivo, resulting in altered recruitment of CBP/p300, aberrant histone modification, and down-regulation of the RARbeta2 gene PMID: 16613851
24. analysis of MYST3-CBP fusion transcripts in t(8;16)(p11;p13) acute myeloid leukemias PMID: 17296583
25. A MYST3-NCOA3 gene fusion was found in AML-M5. The breakpoint in MYST3 occurs in intron-17. PMID: 17805331
26. MYST3 rearrangement was associated with a poor prognosis, as 50% of patients deceased during the first 10 months PMID: 18528428
27. MOZ is essential for the generation and maintenance of hematopoietic stem cells (HSC) and for the appropriate development of myeloid, erythroid and B-lineage cell progenitors. PMID: 18754862
28. These findings indicate that BRPF proteins play a key role in assembling and activating MOZ/MORF acetyltransferase complexes. PMID: 18794358
29. a gain of the MYB locus, was found recurrently and only in the MYST3-linked AMLs (7/18 vs 0/34). MYST3-AMLs have also a specific a gene expression profile, which includes overexpression of MYB, CD4 and HOXA genes PMID: 18818702
30. Monocytic leukemia zinc finger (MOZ) interacts with p53 to induce p21 expression and cell-cycle arrest. PMID: 19001415

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HGNC: 13013

OMIM: 601408

KEGG: hsa:7994

STRING: 9606.ENSP00000265713

UniGene: Hs.491577