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KAT6A (MYST histone acetyltransferase (monocytic leukemia) 3

Written2005-12Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)MYST3
MOZ (monocytic leukemia zinc finger)
ZNF220
RUNXBP2
HGNC (Hugo) KAT6A
HGNC Alias symbMOZ
ZC2HC6A
HGNC Alias nameMonocytic leukemia zinc finger protein
HGNC Previous nameZNF220
 RUNXBP2
 MYST3
HGNC Previous namerunt-related transcription factor binding protein 2
 MYST histone acetyltransferase (monocytic leukemia) 3
 K(lysine) acetyltransferase 6A
LocusID (NCBI) 7994
Atlas_Id 25
Location 8p11.21  [Link to chromosome band 8p11]
Location_base_pair Starts at 41929479 and ends at 42051987 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping KAT6A.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CREBBP (16p13.3)::KAT6A (8p11.21)CTNS (17p13.2)::KAT6A (8p11.21)EP300 (22q13.2)::KAT6A (8p11.21)
FAM49B (8q24.21)::KAT6A (8p11.21)HOXD1 (2q31.1)::KAT6A (8p11.21)KAT6A (8p11.21)::ADAM2 (8p11.22)
KAT6A (8p11.21)::ASXL2 (2p23.3)KAT6A (8p11.21)::CNOT6L (4q21.1)KAT6A (8p11.21)::CREBBP (16p13.3)
KAT6A (8p11.21)::EP300 (22q13.2)KAT6A (8p11.21)::GOT1L1 (8p11.23)KAT6A (8p11.21)::HOXD1 (2q31.1)
KAT6A (8p11.21)::IKBKB (8p11.21)KAT6A (8p11.21)::KAT6A (8p11.21)KAT6A (8p11.21)::KLK4 (19q13.41)
KAT6A (8p11.21)::LEUTX (19q13.2)KAT6A (8p11.21)::MSR1 (8p22)KAT6A (8p11.21)::NCOA2 (8q13.3)
KAT6A (8p11.21)::NCOA3 (20q13.12)KAT6A (8p11.21)::OPN1LW (Xq28)KAT6A (8p11.21)::RAB11FIP1 (8p11.23)
KAT6A (8p11.21)::SRGAP3 (3p25.3)NCL (2q37.1)::KAT6A (8p11.21)NCOA2 (8q13.3)::KAT6A (8p11.21)

DNA/RNA

Description The gene spans121 kb on minus strand; 17 exons;
Transcription 7.85 kb

Protein

 
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 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

Note
  
Entity in therapy related myelodysplastic syndrome --> KAT6A / ?
Disease Only 1 case to date, a boy aged 6 years.
  
  
Entity in acute myelomonocytic or monocytic leukaemia (M4 or M5 AML) --> KAT6A / 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.
  
  
Entity 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/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.
  
  
Entity 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).
  

Breakpoints

 

To be noted

MYST3 and MLL share: a common dual transcription activation / repression activity; probable or certain HOX genes expression regulation; 2 common translocation partners: CREBBP and EP300 giving rise to AML and t-AML with poor prognoses.

Bibliography

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
 
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, Dubé I, Frischauf AM, Horsman D, Mitelman F, Volinia S, Watmore AE, Housman DE
Nature genetics. 1996 ; 14 (1) : 33-41.
PMID 8782817
 
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
 
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
 
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
 
Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: a new specific subgroup?
Laï 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
 
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
 
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
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
MYST3 (MYST histone acetyltransferase (monocytic leukemia) 3
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):151-153.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 13 ]
  8p11 myeloproliferative syndrome (FGFR1)
inv(8)(p11q13) KAT6A::NCOA2
r(8)
t(2;8)(p23;p11) KAT6A::ASXL2
t(3;11)(p25;p15) ANKRD28::NUP98
t(8;16)(p11;p13) KAT6A::CREBBP
t(8;16)(p11;p13) KAT6A::CREBBP in treatment related leukemia
t(8;19)(p11;q13) KAT6A::?
t(8;22)(p11;q13) KAT6A::EP300
t(10;16)(q22;p13) KAT6B::CREBBP
t(8;20)(p11;q13) KAT6A::NCOA3
Therapy-Related Hematopoietic Neoplasia
t(8;19)(p11;q13) KAT6A::LEUTX


External links

 

Nomenclature
HGNC (Hugo)KAT6A   13013
Cards
AtlasMYST3ID25ch8p11
Entrez_Gene (NCBI)KAT6A    lysine acetyltransferase 6A
AliasesARTHS; MOZ; MRD32; MYST-3; 
MYST3; RUNXBP2; ZC2HC6A; ZNF220
GeneCards (Weizmann)KAT6A
Ensembl hg19 (Hinxton)ENSG00000083168 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000083168 [Gene_View]  ENSG00000083168 [Sequence]  chr8:41929479-42051987 [Contig_View]  KAT6A [Vega]
ICGC DataPortalENSG00000083168
TCGA cBioPortalKAT6A
AceView (NCBI)KAT6A
Genatlas (Paris)KAT6A
SOURCE (Princeton)KAT6A
Genetics Home Reference (NIH)KAT6A
Genomic and cartography
GoldenPath hg38 (UCSC)KAT6A  -     chr8:41929479-42051987 -  8p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KAT6A  -     8p11.21   [Description]    (hg19-Feb_2009)
GoldenPathKAT6A - 8p11.21 [CytoView hg19]  KAT6A - 8p11.21 [CytoView hg38]
ImmunoBaseENSG00000083168
Genome Data Viewer NCBIKAT6A [Mapview hg19]  
OMIM601408   616268   
Gene and transcription
Genbank (Entrez)AA310750 AJ420560 AK128323 BC018011 BC142659
RefSeq transcript (Entrez)NM_001099412 NM_001099413 NM_001305878 NM_006766
Consensus coding sequences : CCDS (NCBI)KAT6A
Gene ExpressionKAT6A [ NCBI-GEO ]   KAT6A [ EBI - ARRAY_EXPRESS ]   KAT6A [ SEEK ]   KAT6A [ MEM ]
Gene Expression Viewer (FireBrowse)KAT6A [ Firebrowse - Broad ]
GenevisibleExpression of KAT6A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7994
GTEX Portal (Tissue expression)KAT6A
Human Protein AtlasENSG00000083168-KAT6A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92794   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92794  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92794
PhosPhoSitePlusQ92794
Domaine pattern : Prosite (Expaxy)H15 (PS51504)    MYST_HAT (PS51726)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)Acyl_CoA_acyltransferase    HAT_MYST-type    Histone_H1/H5_H15    KAT6A    WH-like_DNA-bd_sf    WH_DNA-bd_sf    Zf-MYST    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)MOZ_SAS (PF01853)    PHD (PF00628)    zf-MYST (PF17772)   
Domain families : Pfam (NCBI)pfam01853    pfam00628    pfam17772   
Domain families : Smart (EMBL)H15 (SM00526)  PHD (SM00249)  
Conserved Domain (NCBI)KAT6A
PDB (RSDB)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB    5B75    5B76    5B77    5B78   
PDB Europe1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB    5B75    5B76    5B77    5B78   
PDB (PDBSum)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB    5B75    5B76    5B77    5B78   
PDB (IMB)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB    5B75    5B76    5B77    5B78   
Structural Biology KnowledgeBase1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB    5B75    5B76    5B77    5B78   
SCOP (Structural Classification of Proteins)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB    5B75    5B76    5B77    5B78   
CATH (Classification of proteins structures)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB    5B75    5B76    5B77    5B78   
SuperfamilyQ92794
AlphaFold pdb e-kbQ92794   
Human Protein Atlas [tissue]ENSG00000083168-KAT6A [tissue]
HPRD03244
Protein Interaction databases
DIP (DOE-UCLA)Q92794
IntAct (EBI)Q92794
Complex Portal (EBI)Q92794 CPX-736 MOZ3 histone acetyltransferase complex
Q92794 CPX-733 MOZ2 histone acetyltransferase complex
Q92794 CPX-727 MOZ1 histone acetyltransferase complex
BioGRIDKAT6A
STRING (EMBL)KAT6A
ZODIACKAT6A
Ontologies - Pathways
QuickGOQ92794
Ontology : AmiGOnucleosome  DNA binding  transcription coregulator activity  transcription coactivator activity  histone acetyltransferase activity  histone acetyltransferase activity  protein binding  nucleus  nucleoplasm  nucleolus  cytosol  DNA packaging  nucleosome assembly  protein acetylation  transcription factor binding  zinc ion binding  acetyltransferase activity  histone acetylation  PML body  nuclear speck  myeloid cell differentiation  histone binding  histone H3 acetylation  histone H3 acetylation  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  MOZ/MORF histone acetyltransferase complex  MOZ/MORF histone acetyltransferase complex  cellular senescence  regulation of signal transduction by p53 class mediator  
Ontology : EGO-EBInucleosome  DNA binding  transcription coregulator activity  transcription coactivator activity  histone acetyltransferase activity  histone acetyltransferase activity  protein binding  nucleus  nucleoplasm  nucleolus  cytosol  DNA packaging  nucleosome assembly  protein acetylation  transcription factor binding  zinc ion binding  acetyltransferase activity  histone acetylation  PML body  nuclear speck  myeloid cell differentiation  histone binding  histone H3 acetylation  histone H3 acetylation  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  MOZ/MORF histone acetyltransferase complex  MOZ/MORF histone acetyltransferase complex  cellular senescence  regulation of signal transduction by p53 class mediator  
REACTOMEQ92794 [protein]
REACTOME PathwaysR-HSA-6804758 [pathway]   
NDEx NetworkKAT6A
Atlas of Cancer Signalling NetworkKAT6A
Wikipedia pathwaysKAT6A
Orthology - Evolution
OrthoDB7994
GeneTree (enSembl)ENSG00000083168
Phylogenetic Trees/Animal Genes : TreeFamKAT6A
Homologs : HomoloGeneKAT6A
Homology/Alignments : Family Browser (UCSC)KAT6A
Gene fusions - Rearrangements
Fusion : MitelmanCREBBP::KAT6A [16p13.3/8p11.21]  
Fusion : MitelmanFAM49B::KAT6A [8q24.21/8p11.21]  
Fusion : MitelmanKAT6A::ADAM2 [8p11.21/8p11.22]  
Fusion : MitelmanKAT6A::ASXL2 [8p11.21/2p23.3]  
Fusion : MitelmanKAT6A::CREBBP [8p11.21/16p13.3]  
Fusion : MitelmanKAT6A::EP300 [8p11.21/22q13.2]  
Fusion : MitelmanKAT6A::GOT1L1 [8p11.21/8p11.23]  
Fusion : MitelmanKAT6A::IKBKB [8p11.21/8p11.21]  
Fusion : MitelmanKAT6A::KLK4 [8p11.21/19q13.41]  
Fusion : MitelmanKAT6A::LEUTX [8p11.21/19q13.2]  
Fusion : MitelmanKAT6A::MSR1 [8p11.21/8p22]  
Fusion : MitelmanKAT6A::NCOA2 [8p11.21/8q13.3]  
Fusion : MitelmanKAT6A::NCOA3 [8p11.21/20q13.12]  
Fusion : MitelmanKAT6A::RAB11FIP1 [8p11.21/8p11.23]  
Fusion : QuiverKAT6A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKAT6A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KAT6A
dbVarKAT6A
ClinVarKAT6A
MonarchKAT6A
1000_GenomesKAT6A 
Exome Variant ServerKAT6A
GNOMAD BrowserENSG00000083168
Varsome BrowserKAT6A
ACMGKAT6A variants
VarityQ92794
Genomic Variants (DGV)KAT6A [DGVbeta]
DECIPHERKAT6A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKAT6A 
Mutations
ICGC Data PortalKAT6A 
TCGA Data PortalKAT6A 
Broad Tumor PortalKAT6A
OASIS PortalKAT6A [ Somatic mutations - Copy number]
Cancer Gene: CensusKAT6A 
Somatic Mutations in Cancer : COSMICKAT6A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKAT6A
Mutations and Diseases : HGMDKAT6A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaKAT6A
DgiDB (Drug Gene Interaction Database)KAT6A
DoCM (Curated mutations)KAT6A
CIViC (Clinical Interpretations of Variants in Cancer)KAT6A
OncoKBKAT6A
NCG (London)KAT6A
Cancer3DKAT6A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601408    616268   
Orphanet22467    23705   
DisGeNETKAT6A
MedgenKAT6A
Genetic Testing Registry KAT6A
NextProtQ92794 [Medical]
GENETestsKAT6A
Target ValidationKAT6A
Huge Navigator KAT6A [HugePedia]
ClinGenKAT6A
Clinical trials, drugs, therapy
MyCancerGenomeKAT6A
Protein Interactions : CTDKAT6A
Pharm GKB GenePA37592
PharosQ92794
Clinical trialKAT6A
Miscellaneous
canSAR (ICR)KAT6A
HarmonizomeKAT6A
DataMed IndexKAT6A
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXKAT6A
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:23:20 CEST 2021

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