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| 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. |
| Entity | t(2;8)(p23;p11) in therapy related myelodysplastic syndrome --> MYST3 / ? |
| Disease | Only 1 case to date, a boy aged 6 years. |
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| Entity | inv(8)(p11q13) in acute myelomonocytic or monocytic leukaemia (M4 or M5 AML) --> MYST3 / NCOA2 |
| Disease | Erythrophagocytosis; very rare: less than 10 cases; young age, and female sex. |
| Prognosis | likely to be poor |
| Hybrid/Mutated Gene | 5' MYST3 - 3' NCOA2 |
| Abnormal 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. |
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| Entity | t(8;16)(p11;p13) in acute myelomonocytic or monocytic leukaemia (M4 or M5 AML) and therapy related AML (t-AML) --> MYST3 / CREBBP |
| Disease | Erythrophagocytosis; rare: less than 1% of AML; found in children and young adults of both sex. |
| Prognosis | poor |
| Hybrid/Mutated Gene | 5' MYST3 - 3' CREBBP |
| Abnormal 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. |
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| Entity | t(8;22) (p11; q13) in acute myelomonocytic or monocytic leukaemia (M4 or M5 AML) --> MYST3 / EP300 |
| 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). |
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| Nomenclature | | HGNC (Hugo) | KAT6A 13013 |
| Entrez_Gene (NCBI) | KAT6A 7994 K(lysine) acetyltransferase 6A |
| Cards | | Atlas | MYST3ID25ch8p11 |
| GeneCards (Weizmann) | KAT6A |
| Ensembl (Hinxton) | ENSG00000083168 [Gene_View] chr8:41786997-41909505 [Contig_View] KAT6A [Vega] |
| AceView (NCBI) | KAT6A |
| Genatlas (Paris) | KAT6A |
| SOURCE (Stanford) | NM_001099412 NM_001099413 NM_006766 |
| Genomic and cartography | | GoldenPath (UCSC) | KAT6A - 8p11.21 chr8:41786997-41909505 - 8p11 [Description] (hg19-Feb_2009) |
| Ensembl | KAT6A - 8p11 [CytoView] |
| Mapping of homologs : NCBI | KAT6A [Mapview] |
| OMIM | 601408 |
| Gene and transcription |
| Genbank (Entrez) | AK027361 AK128323 BC018011 BC142659 BC142959 |
| RefSeq transcript (SRS) | NM_001099412 NM_001099413 NM_006766 |
| RefSeq transcript (Entrez) | NM_001099412 NM_001099413 NM_006766 |
| RefSeq genomic (SRS) | AC_000140 NC_000008 NC_018919 NT_167187 NW_001839130 NW_004078035 |
| RefSeq genomic (Entrez) | AC_000140 NC_000008 NC_018919 NT_167187 NW_001839130 NW_004078035 |
| Consensus coding sequences : CCDS (NCBI) | KAT6A |
| Cluster EST : Unigene | Hs.491577 [ SRS ] Hs.491577 [ NCBI ] |
| CGAP (NCI) | Hs.491577 |
| Alternative Splicing : Fast-db (Paris) | GSHG0029548 |
| Alternative Splicing Gallery | ENSG00000083168 |
| Gene Expression | KAT6A [ NCBI-GEO ] KAT6A [ EBI - ARRAY_EXPRESS ] |
| Protein : pattern, domain, 3D structure |
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| UniProt/SwissProt | Q92794 (SRS) Q92794 (Uniprot) |
| NextProt | Q92794 |
| With graphics : InterPro | Q92794 |
| Splice isoforms : SwissVar | Q92794(Swissvar) |
| Domaine pattern : Prosite (SRS) | H15 (PS51504) ZF_PHD_1 (PS01359) ZF_PHD_2 (PS50016) |
| Domaine pattern : Prosite (Expaxy) | H15 (PS51504) ZF_PHD_1 (PS01359) ZF_PHD_2 (PS50016) |
| Domains : Interpro (SRS) | Acyl_CoA_acyltransferase Histone_H1/H5 MOZ_SAS Znf_FYVE_PHD Znf_PHD Znf_PHD-finger Znf_RING Znf_RING/FYVE/PHD |
| Domains : Interpro (EBI) | Acyl_CoA_acyltransferase Histone_H1/H5 MOZ_SAS Znf_FYVE_PHD Znf_PHD Znf_PHD-finger Znf_RING Znf_RING/FYVE/PHD |
| Related proteins : CluSTr | Q92794 |
| Domain families : Pfam (SRS) | MOZ_SAS (PF01853) PHD (PF00628) |
| Domain families : Pfam (Sanger) | MOZ_SAS (PF01853) PHD (PF00628) |
| Domain families : Pfam (NCBI) | pfam01853 pfam00628 |
| Domain families : Smart (EMBL) | H15 (SM00526) PHD (SM00249) RING (SM00184) |
| DMDM | 7994 |
| Blocks (Seattle) | Q92794 |
| PDB (SRS) | 1M36 2LN0 2OZU 2RC4 3V43 |
| PDB (PDBSum) | 1M36 2LN0 2OZU 2RC4 3V43 |
| PDB (IMB) | 1M36 2LN0 2OZU 2RC4 3V43 |
| PDB (RSDB) | 1M36 2LN0 2OZU 2RC4 3V43 |
| Human Protein Atlas | ENSG00000083168 |
| HPRD | 03244 |
| IPI | IPI00023340 IPI00747970 IPI00878877 IPI00980404 |
| Protein Interaction databases |
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| DIP (DOE-UCLA) | Q92794 |
| IntAct (EBI) | Q92794 |
| FunCoup | ENSG00000083168 |
| REACTOME | KAT6A |
| Protein Interaction Database | 7994 |
| BioGRID | KAT6A |
| InParanoid | Q92794 |
| Interologous Interaction database | Q92794 |
| IntegromeDB | KAT6A |
| Polymorphism : SNP, mutations, diseases | | SNP Single Nucleotide Polymorphism (NCBI) | KAT6A |
| SNP (GeneSNP Utah) | KAT6A |
| SNP : HGBase | KAT6A |
| Genetic variants : HAPMAP | KAT6A |
| Mutations and Diseases : HGMD | KAT6A |
| OMIM | 601408 |
| GENETests | 601408 |
| Disease Genetic Association | KAT6A |
| Huge Navigator |
KAT6A [HugePedia] KAT6A [HugeCancerGEM] |
| Genomic Variants | KAT6A KAT6A [DGVbeta] |
| ClinVar | KAT6A |
| snp3D : Map Gene to Disease | 7994 |
| General knowledge |
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| Homologs : HomoloGene | KAT6A |
| Homology/Alignments : Family Browser (UCSC) | KAT6A |
| Phylogenetic Trees/Animal Genes : TreeFam | KAT6A |
| Catalytic activity : Enzyme | 2.3.1.48 [ Enzyme-Expasy ] 2.3.1.48 [ Enzyme-SRS ] 2.3.1.48 [ IntEnz-EBI ] 2.3.1.48 [ BRENDA ] 2.3.1.48 [ KEGG ] |
| Chemical/Protein Interactions : CTD | 7994 |
| Chemical/Pharm GKB Gene | PA37592 |
| Clinical trial | KAT6A |
| Cancer Resource (Charite) | ENSG00000083168 |
| Ontology : AmiGO | nucleosome DNA binding transcription coactivator activity histone acetyltransferase activity protein binding nucleus nucleolus DNA packaging nucleosome assembly transcription, DNA-dependent protein acetylation transcription factor binding zinc ion binding acetyltransferase activity histone acetylation PML body myeloid cell differentiation somatic stem cell maintenance embryonic hemopoiesis histone H3 acetylation negative regulation of transcription, DNA-dependent positive regulation of transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex cellular senescence |
| Ontology : EGO-EBI | nucleosome DNA binding transcription coactivator activity histone acetyltransferase activity protein binding nucleus nucleolus DNA packaging nucleosome assembly transcription, DNA-dependent protein acetylation transcription factor binding zinc ion binding acetyltransferase activity histone acetylation PML body myeloid cell differentiation somatic stem cell maintenance embryonic hemopoiesis histone H3 acetylation negative regulation of transcription, DNA-dependent positive regulation of transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex cellular senescence |
| Pathways : KEGG | Limonene and pinene degradation1- and 2-Methylnaphthalene degradationGlycerophospholipid metabolismValine, leucine and isoleucine degradationAlkaloid biosynthesis IIPhenylalanine metabolismBenzoate degradation via CoA ligationEthylbenzene degradationTyrosine metabolism |
| Other databases | | Probes |
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| Litterature | | PubMed | 45 Pubmed reference(s) in Entrez |
| PubGene | KAT6A |
| iHOP | KAT6A |
| Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: a new specific subgroup? |
| LaˆØ JL, Zandecki M, Jouet JP, Savary JB, Lambiliotte A, Bauters F, Cosson A, Deminatti M |
| Cancer genetics and cytogenetics. 1987 ; 27 (1) : 101-109. |
| PMID 3472640 |
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| The 8p11 anomaly in monoblastic leukaemia. |
| Brizard A, Guilhot F, Huret JL, Benz-Lemoine E, Tanzer J |
| Leukemia research. 1988 ; 12 (8) : 693-697. |
| PMID 3184987 |
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| The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. |
| Borrow J, Stanton VP Jr, Andresen JM, Becher R, Behm FG, Chaganti RS, Civin CI, Disteche C, Dubˆ© I, Frischauf AM, Horsman D, Mitelman F, Volinia S, Watmore AE, Housman DE |
| Nature genetics. 1996 ; 14 (1) : 33-41. |
| PMID 8782817 |
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| Abnormalities of chromosome band 8p11 in leukemia: two clinical syndromes can be distinguished on the basis of MOZ involvement. |
| Aguiar RC, Chase A, Coulthard S, Macdonald DH, Carapeti M, Reiter A, Sohal J, Lennard A, Goldman JM, Cross NC |
| Blood. 1997 ; 90 (8) : 3130-3135. |
| PMID 9376594 |
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| A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia. |
| Carapeti M, Aguiar RC, Goldman JM, Cross NC |
| Blood. 1998 ; 91 (9) : 3127-3133. |
| PMID 9558366 |
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| Rearrangement of the MOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11). |
| Imamura T, Kakazu N, Hibi S, Morimoto A, Fukushima Y, Ijuin I, Hada S, Kitabayashi I, Abe T, Imashuku S |
| Genes, chromosomes & cancer. 2003 ; 36 (4) : 413-419. |
| PMID 12619166 |
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| moz regulates Hox expression and pharyngeal segmental identity in zebrafish. |
| Miller CT, Maves L, Kimmel CB |
| Development (Cambridge, England). 2004 ; 131 (10) : 2443-2461. |
| PMID 15128673 |
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| The diverse superfamily of lysine acetyltransferases and their roles in leukemia and other diseases. |
| Yang XJ |
| Nucleic acids research. 2004 ; 32 (3) : 959-976. |
| PMID 14960713 |
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