KAT6A (MYST histone acetyltransferase (monocytic leukemia) 3
2005-12-01 Jean-Loup Huret , Sylvie Senon AffiliationGenetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
8p11.21
LOCUSID
ALIAS
ARTHS,MOZ,MRD32,MYST-3,MYST3,RUNXBP2,ZC2HC6A,ZNF220
FUSION GENES
DNA/RNA
Description
The gene spans121 kb on minus strand; 17 exons;
Transcription
7.85 kb
Proteins
Description
2004 amino acids; 225 kDa; composed from N-term of: a NEMM domain (N-term region of ENOK, MOZ or MORF) including a H15 (linker H1 and H5 like) nuclear localization domain, 2 PHD (plant homeodomain, also known as LAP (leukemia associated protein)) Zn fingers (C4HC3), a C2HC Zn finger, essential part of the histone acyl transferase domain (HAT MOZ-SAS), an acidic (Glu-Asp) domain, localisation of breakpoints in the inv(8) and in the t(8;22) in 1118, and a Ser-(Pro-Glu)-Met rich domain, localisation of the t(8;16) breakpoint in 1547.
Localisation
Nucleus
Function
Lysine acetyltransferase activity (histone acyl transferase); MYST3 (MOZ) and MYST4 (MORF) possess both transcription activation and transcription repression domains; transcriptional regulators; interact with RUNX1 and RUNX2; Moz, the zebrafish ortholog of MYST3, was also found to regulate Hox expression; Moz behaves like a trithorax group factor.
Homology
with MYST4 (MORF) (monocytic leukemia zinc finger protein-related factor), a transcription regulator with positive and negative domains and activities.
Implicated in
Entity name
t(2;8)(p23;p11) in therapy related myelodysplastic syndrome --> KAT6A / ?
Disease
Only 1 case to date, a boy aged 6 years.
Entity name
Disease
Erythrophagocytosis; very rare: less than 10 cases; young age, and female sex.
Prognosis
likely to be poor
Hybrid gene
5 MYST3 - 3 NCOA2
Fusion protein
The fusion product retains the zinc fingers, the the histone acetyl transferase (HAT) domain of MYST3 and the HAT domains and CREBBP interacting domain of NCOA2.
Entity name
t(8;16)(p11;p13) in acute myelomonocytic or monocytic leukaemia (M4 or M5 AML) and therapy related AML (t-AML) --> KAT6A / CREBBP
Disease
Erythrophagocytosis; rare: less than 1% of AML; found in children and young adults of both sex.
Prognosis
poor
Hybrid gene
5 MYST3 - 3 CREBBP
Fusion protein
The fusion product retains the zinc fingers, the HAT domain of MYST3 and most of CREBBP, including the CREBBP interacting domain and the HAT domain; the fusion protein may repress RUNX1-dependant gene expression.
Entity name
Disease
Erythrophagocytosis; very rare: less than 5 cases.
Prognosis
likely to be poor
Oncogenesis
EP300 is very similar to CRBBP (see above), the breakpoints on these 2 genes are on homologous regions; the breakpoint on MYST3 is more proximal in the t(8;22).
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9376594 | 1997 | Abnormalities of chromosome band 8p11 in leukemia: two clinical syndromes can be distinguished on the basis of MOZ involvement. | Aguiar RC et al |
| 8782817 | 1996 | The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. | Borrow J et al |
| 3184987 | 1988 | The 8p11 anomaly in "monoblastic" leukaemia. | Brizard A et al |
| 9558366 | 1998 | A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia. | Carapeti M et al |
| 12619166 | 2003 | Rearrangement of the MOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11). | Imamura T et al |
| 3472640 | 1987 | Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: a new specific subgroup? | Laï JL et al |
| 15128673 | 2004 | moz regulates Hox expression and pharyngeal segmental identity in zebrafish. | Miller CT et al |
| 14960713 | 2004 | The diverse superfamily of lysine acetyltransferases and their roles in leukemia and other diseases. | Yang XJ et al |
Other Information
Locus ID:
NCBI: 7994
MIM: 601408
HGNC: 13013
Ensembl: ENSG00000083168
Variants:
dbSNP: 7994
ClinVar: 7994
TCGA: ENSG00000083168
COSMIC: KAT6A
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36537216 | 2023 | The histone acetyltransferase KAT6A is recruited to unmethylated CpG islands via a DNA binding winged helix domain. | 3 |
| 36754959 | 2023 | MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain. | 6 |
| 37861717 | 2023 | KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster. | 0 |
| 36537216 | 2023 | The histone acetyltransferase KAT6A is recruited to unmethylated CpG islands via a DNA binding winged helix domain. | 3 |
| 36754959 | 2023 | MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain. | 6 |
| 37861717 | 2023 | KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster. | 0 |
| 34748993 | 2022 | Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature. | 3 |
| 34853079 | 2022 | KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs. | 25 |
| 35332266 | 2022 | Matrix stiffness-induced upregulation of histone acetyltransferase KAT6A promotes hepatocellular carcinoma progression through regulating SOX2 expression. | 8 |
| 35892268 | 2022 | Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome. | 6 |
| 35976474 | 2022 | miR-339-3p inhibits cell growth and epithelial-mesenchymal transition in nasopharyngeal carcinoma by modulating the KAT6A/TRIM24 axis. | 0 |
| 36456139 | 2022 | The Expression of Histone Acetyltransferase KAT6A in Non-small Cell Lung Cancer. | 1 |
| 34748993 | 2022 | Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature. | 3 |
| 34853079 | 2022 | KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs. | 25 |
| 35332266 | 2022 | Matrix stiffness-induced upregulation of histone acetyltransferase KAT6A promotes hepatocellular carcinoma progression through regulating SOX2 expression. | 8 |
Citation
Jean-Loup Huret ; Sylvie Senon
KAT6A (MYST histone acetyltransferase (monocytic leukemia) 3
Atlas Genet Cytogenet Oncol Haematol. 2005-12-01
Online version: http://atlasgeneticsoncology.org/gene/25
