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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

Other namesMYST3
MOZ (monocytic leukemia zinc finger)
ZNF220
RUNXBP2
HGNC (Hugo) KAT6A
LocusID (NCBI) 7994
Atlas_Id 25
Location 8p11.21
Location_base_pair Starts at 41799567 and ends at 41909544 bp from pter ( according to hg19-Feb_2009)  [Mapping KAT6A.png]
Fusion genes
(updated 2016)
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)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 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

Note
Entity t(2;8)(p23;p11) in therapy related myelodysplastic syndrome --> MYST3 / ?
Disease Only 1 case to date, a boy aged 6 years.
  
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.
  
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.
  
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).
  

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

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
 
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
 
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
 
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
 
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
 
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 ]
On line version : http://AtlasGeneticsOncology.org/Genes/MYST3ID25ch8p11.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 10 ]
  8p11 myeloproliferative syndrome (FGFR1)
inv(8)(p11q13) KAT6A/NCOA2
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

External links

Nomenclature
HGNC (Hugo)KAT6A   13013
Cards
AtlasMYST3ID25ch8p11
Entrez_Gene (NCBI)KAT6A  7994  lysine acetyltransferase 6A
AliasesMOZ; MRD32; MYST-3; MYST3; 
RUNXBP2; ZC2HC6A; ZNF220
GeneCards (Weizmann)KAT6A
Ensembl hg19 (Hinxton)ENSG00000083168 [Gene_View]  chr8:41799567-41909544 [Contig_View]  KAT6A [Vega]
Ensembl hg38 (Hinxton)ENSG00000083168 [Gene_View]  chr8:41799567-41909544 [Contig_View]  KAT6A [Vega]
ICGC DataPortalENSG00000083168
TCGA cBioPortalKAT6A
AceView (NCBI)KAT6A
Genatlas (Paris)KAT6A
WikiGenes7994
SOURCE (Princeton)KAT6A
Genomic and cartography
GoldenPath hg19 (UCSC)KAT6A  -     chr8:41799567-41909544 -  8p11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KAT6A  -     8p11   [Description]    (hg38-Dec_2013)
EnsemblKAT6A - 8p11 [CytoView hg19]  KAT6A - 8p11 [CytoView hg38]
Mapping of homologs : NCBIKAT6A [Mapview hg19]  KAT6A [Mapview hg38]
OMIM601408   616268   
Gene and transcription
Genbank (Entrez)AA310750 AJ420560 AK128323 BC018011 BC142659
RefSeq transcript (Entrez)NM_001099412 NM_001099413 NM_001305878 NM_006766
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_042093 NT_167187 NW_004929337
Consensus coding sequences : CCDS (NCBI)KAT6A
Cluster EST : UnigeneHs.491577 [ NCBI ]
CGAP (NCI)Hs.491577
Alternative Splicing GalleryENSG00000083168
Gene ExpressionKAT6A [ NCBI-GEO ]   KAT6A [ EBI - ARRAY_EXPRESS ]   KAT6A [ SEEK ]   KAT6A [ MEM ]
Gene Expression Viewer (FireBrowse)KAT6A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7994
GTEX Portal (Tissue expression)KAT6A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92794 (Uniprot)
NextProtQ92794  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92794
Splice isoforms : SwissVarQ92794 (Swissvar)
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    WHTH_DNA-bd_dom    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING    Znf_RING/FYVE/PHD   
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 Disease mutations7994
Blocks (Seattle)KAT6A
PDB (SRS)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB   
PDB (PDBSum)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB   
PDB (IMB)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB   
PDB (RSDB)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB   
Structural Biology KnowledgeBase1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB   
SCOP (Structural Classification of Proteins)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB   
CATH (Classification of proteins structures)1M36    2LN0    2OZU    2RC4    3V43    4LJN    4LK9    4LKA    4LLB   
SuperfamilyQ92794
Human Protein AtlasENSG00000083168
Peptide AtlasQ92794
HPRD03244
IPIIPI00023340   IPI00747970   IPI00878877   IPI00980404   
Protein Interaction databases
DIP (DOE-UCLA)Q92794
IntAct (EBI)Q92794
FunCoupENSG00000083168
BioGRIDKAT6A
STRING (EMBL)KAT6A
ZODIACKAT6A
Ontologies - Pathways
QuickGOQ92794
Ontology : AmiGOnucleosome  DNA binding  transcription coactivator activity  histone acetyltransferase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  Golgi apparatus  DNA packaging  nucleosome assembly  transcription, DNA-templated  protein acetylation  transcription factor binding  zinc ion binding  acetyltransferase activity  acetyltransferase activity  histone acetylation  PML body  myeloid cell differentiation  histone H3 acetylation  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  MOZ/MORF histone acetyltransferase complex  cellular senescence  regulation of signal transduction by p53 class mediator  
Ontology : EGO-EBInucleosome  DNA binding  transcription coactivator activity  histone acetyltransferase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  Golgi apparatus  DNA packaging  nucleosome assembly  transcription, DNA-templated  protein acetylation  transcription factor binding  zinc ion binding  acetyltransferase activity  acetyltransferase activity  histone acetylation  PML body  myeloid cell differentiation  histone H3 acetylation  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  MOZ/MORF histone acetyltransferase complex  cellular senescence  regulation of signal transduction by p53 class mediator  
REACTOMEQ92794 [protein]
REACTOME PathwaysR-HSA-3214847 HATs acetylate histones [pathway]
NDEx Network
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]  [t(8;16)(p11;p13)]  
Fusion : MitelmanFAM49B/KAT6A [8q24.21/8p11.21]  [t(8;8)(p11;q24)]  
Fusion : MitelmanKAT6A/ADAM2 [8p11.21/8p11.22]  [t(8;8)(p11;p11)]  
Fusion : MitelmanKAT6A/ASXL2 [8p11.21/2p23.3]  [t(2;8)(p23;p11)]  
Fusion : MitelmanKAT6A/CREBBP [8p11.21/16p13.3]  [t(8;16)(p11;p13)]  
Fusion : MitelmanKAT6A/EP300 [8p11.21/22q13.2]  [t(8;22)(p11;q13)]  
Fusion : MitelmanKAT6A/GOT1L1 [8p11.21/8p11.23]  [t(8;8)(p11;p11)]  
Fusion : MitelmanKAT6A/IKBKB [8p11.21/8p11.21]  [t(8;8)(p11;p11)]  
Fusion : MitelmanKAT6A/KLK4 [8p11.21/19q13.41]  [t(8;19)(p11;q13)]  
Fusion : MitelmanKAT6A/LEUTX [8p11.21/19q13.2]  [t(8;19)(p11;q13)]  
Fusion : MitelmanKAT6A/MSR1 [8p11.21/8p22]  [t(8;8)(p11;p22)]  
Fusion : MitelmanKAT6A/NCOA2 [8p11.21/8q13.3]  [inv(8)(p11q13)]  
Fusion : MitelmanKAT6A/NCOA3 [8p11.21/20q13.12]  [t(8;20)(p11;q13)]  
Fusion : MitelmanKAT6A/RAB11FIP1 [8p11.21/8p11.23]  [t(8;8)(p11;p11)]  
Fusion: TCGACREBBP 16p13.3 KAT6A 8p11.21 LAML
Fusion: TCGAFAM49B 8q24.21 KAT6A 8p11.21 BRCA
Fusion: TCGAKAT6A 8p11.21 ADAM2 8p11.22 BRCA
Fusion: TCGAKAT6A 8p11.21 GOT1L1 8p11.23 LUAD
Fusion: TCGAKAT6A 8p11.21 IKBKB 8p11.21 BRCA
Fusion: TCGAKAT6A 8p11.21 KLK4 19q13.41 BRCA
Fusion: TCGAKAT6A 8p11.21 MSR1 8p22 BRCA
Fusion: TCGAKAT6A 8p11.21 RAB11FIP1 8p11.23 LUAD
Fusion : TICdbKAT6A [8p11.21]  -  ASXL2 [2p23.3]
Fusion : TICdbKAT6A [8p11.21]  -  CREBBP [16p13.3]
Fusion : TICdbKAT6A [8p11.21]  -  NCOA2 [8q13.3]
Fusion : TICdbKAT6A [8p11.21]  -  NCOA3 [20q13.12]
Polymorphisms : SNP, variants
NCBI Variation ViewerKAT6A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KAT6A
dbVarKAT6A
ClinVarKAT6A
1000_GenomesKAT6A 
Exome Variant ServerKAT6A
ExAC (Exome Aggregation Consortium)KAT6A (select the gene name)
Genetic variants : HAPMAP7994
Genomic Variants (DGV)KAT6A [DGVbeta]
Mutations
ICGC Data PortalKAT6A 
TCGA Data PortalKAT6A 
Broad Tumor PortalKAT6A
OASIS PortalKAT6A [ Somatic mutations - Copy number]
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KAT6A
DgiDB (Drug Gene Interaction Database)KAT6A
DoCM (Curated mutations)KAT6A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KAT6A (select a term)
intoGenKAT6A
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:41799567-41909544  ENSG00000083168
CONAN: Copy Number AnalysisKAT6A 
Mutations and Diseases : HGMDKAT6A
OMIM601408    616268   
MedgenKAT6A
Genetic Testing Registry KAT6A
NextProtQ92794 [Medical]
TSGene7994
GENETestsKAT6A
Huge Navigator KAT6A [HugePedia]
snp3D : Map Gene to Disease7994
BioCentury BCIQKAT6A
ClinGenKAT6A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7994
Chemical/Pharm GKB GenePA37592
Clinical trialKAT6A
Miscellaneous
canSAR (ICR)KAT6A (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKAT6A
EVEXKAT6A
GoPubMedKAT6A
iHOPKAT6A
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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