Human Gene KAT6A (ENST00000265713.8_13) from GENCODE V47lift37
  Description: lysine acetyltransferase 6A, transcript variant 1 (from RefSeq NM_006766.5)
Gencode Transcript: ENST00000265713.8_13
Gencode Gene: ENSG00000083168.11_19
Transcript (Including UTRs)
   Position: hg19 chr8:41,786,997-41,909,505 Size: 122,509 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr8:41,789,723-41,906,495 Size: 116,773 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:41,786,997-41,909,505)mRNA (may differ from genome)Protein (2004 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KAT6A_HUMAN
DESCRIPTION: RecName: Full=Histone acetyltransferase KAT6A; EC=2.3.1.48; AltName: Full=MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3; Short=MYST-3; AltName: Full=Monocytic leukemia zinc finger protein; AltName: Full=Runt-related transcription factor-binding protein 2; AltName: Full=Zinc finger protein 220;
FUNCTION: Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2.
CATALYTIC ACTIVITY: Acetyl-CoA + [histone] = CoA + acetyl- [histone].
SUBUNIT: Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts with RUNX1; phosphorylation of RUNX1 enhances the interaction. Interacts with RUNX2.
INTERACTION: Q03164:MLL; NbExp=10; IntAct=EBI-948013, EBI-2638616; P61964:WDR5; NbExp=4; IntAct=EBI-948013, EBI-540834;
SUBCELLULAR LOCATION: Nucleus. Note=Partially concentrated in subnuclear foci distinct from PML bodies, and excluded from the nucleoli.
DOMAIN: The N-terminus is involved in transcriptional activation while the C-terminus is involved in transcriptional repression.
PTM: Autoacetylated.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
PTM: Autoacetylation at Lys-604 is required for proper function (By similarity).
DISEASE: Note=Chromosomal aberrations involving KAT6A may be a cause of acute myeloid leukemias. Translocation t(8;16)(p11;p13) with CREBBP; translocation t(8;22)(p11;q13) with EP300. KAT6A- CREBBP may induce leukemia by inhibiting RUNX1-mediated transcription. Inversion inv(8)(p11;q13) generates the KAT6A-NCOA2 oncogene, which consists of the N-terminal part of KAT6A and the C-terminal part of NCOA2/TIF2. KAT6A-NCOA2 binds to CREBBP and disrupts its function in transcription activation.
DISEASE: Note=A chromosomal aberration involving KAT6A is a cause of therapy-related myelodysplastic syndrome. Translocation t(2;8)(p23;p11.2) with ASXL2 generates a KAT6A-ASXL2 fusion protein.
SIMILARITY: Belongs to the MYST (SAS/MOZ) family.
SIMILARITY: Contains 1 C2HC-type zinc finger.
SIMILARITY: Contains 1 H15 (linker histone H1/H5 globular) domain.
SIMILARITY: Contains 2 PHD-type zinc fingers.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MYST3ID25ch8p11.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KAT6A
Diseases sorted by gene-association score: mental retardation, autosomal dominant 32* (1369), acute myeloid leukemia with t(8;16)(p11;p13) translocation* (369), intellectual disability* (187), alacrima, achalasia, and mental retardation syndrome* (94), monocytic leukemia (46), acute monocytic leukemia (35), neonatal leukemia (23), oropouche fever (17), leukemia (8), adult medulloblastoma (7), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.05 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 315.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -122.80412-0.298 Picture PostScript Text
3' UTR -688.002726-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016181 - Acyl_CoA_acyltransferase
IPR005818 - Histone_H1/H5
IPR002717 - MOZ_SAS
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR019787 - Znf_PHD-finger
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00628 - PHD-finger
PF01853 - MOZ/SAS family
PF17772 - MYST family zinc finger domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
55729 - Acyl-CoA N-acyltransferases (Nat)
57667 - beta-beta-alpha zinc fingers
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1M36 - NMR MuPIT 2LN0 - NMR MuPIT 2OZU - X-ray MuPIT 2RC4 - X-ray MuPIT 3V43 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q92794
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003713 transcription coactivator activity
GO:0004402 histone acetyltransferase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008270 zinc ion binding
GO:0016407 acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0046872 metal ion binding

Biological Process:
GO:0006323 DNA packaging
GO:0006325 chromatin organization
GO:0006334 nucleosome assembly
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006473 protein acetylation
GO:0016573 histone acetylation
GO:0030099 myeloid cell differentiation
GO:0043966 histone H3 acetylation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048513 animal organ development
GO:0090398 cellular senescence
GO:1901796 regulation of signal transduction by p53 class mediator

Cellular Component:
GO:0000786 nucleosome
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0016605 PML body
GO:0016607 nuclear speck
GO:0070776 MOZ/MORF histone acetyltransferase complex


-  Descriptions from all associated GenBank mRNAs
  U47742 - Human monocytic leukaemia zinc finger protein (MOZ) mRNA, complete cds.
LP895598 - Sequence 462 from Patent EP3253886.
BC172379 - Synthetic construct Homo sapiens clone IMAGE:100069073, MGC:199084 MYST histone acetyltransferase (monocytic leukemia) 3 (MYST3) mRNA, encodes complete protein.
AB463136 - Synthetic construct DNA, clone: pF1KB9557, Homo sapiens MYST3 gene for MYST histone acetyltransferase (monocytic leukemia) 3, without stop codon, in Flexi system.
AK128323 - Homo sapiens cDNA FLJ46465 fis, clone THYMU3022434.
BC142659 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 3, mRNA (cDNA clone IMAGE:40148081), partial cds.
BC142959 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 3, mRNA (cDNA clone IMAGE:8860366), complete cds.
AJ420560 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1476475.
JD520035 - Sequence 501059 from Patent EP1572962.
JD353260 - Sequence 334284 from Patent EP1572962.
JD230566 - Sequence 211590 from Patent EP1572962.
JD304362 - Sequence 285386 from Patent EP1572962.
JD551440 - Sequence 532464 from Patent EP1572962.
JD303031 - Sequence 284055 from Patent EP1572962.
JD357215 - Sequence 338239 from Patent EP1572962.
JD512204 - Sequence 493228 from Patent EP1572962.
JD219701 - Sequence 200725 from Patent EP1572962.
JD172241 - Sequence 153265 from Patent EP1572962.
BC018011 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 3, mRNA (cDNA clone IMAGE:4283000), partial cds.
JD343588 - Sequence 324612 from Patent EP1572962.
JD393702 - Sequence 374726 from Patent EP1572962.
JD385180 - Sequence 366204 from Patent EP1572962.
JD109992 - Sequence 91016 from Patent EP1572962.
JD133458 - Sequence 114482 from Patent EP1572962.
JD449969 - Sequence 430993 from Patent EP1572962.
JD441878 - Sequence 422902 from Patent EP1572962.
JD471648 - Sequence 452672 from Patent EP1572962.
JD326467 - Sequence 307491 from Patent EP1572962.
JD307339 - Sequence 288363 from Patent EP1572962.
JD095432 - Sequence 76456 from Patent EP1572962.
JD281129 - Sequence 262153 from Patent EP1572962.
AJ251845 - Homo sapiens partial mRNA for CBP/MOZ chimeric transcript.
AK027361 - Homo sapiens cDNA FLJ14455 fis, clone HEMBB1001908.
JD222756 - Sequence 203780 from Patent EP1572962.
JD171146 - Sequence 152170 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92794 (Reactome details) participates in the following event(s):

R-HSA-5579023 NCOA2(869-1464) binds KAT6A(1-1118)
R-HSA-6805620 KAT6A and PML bind TP53
R-HSA-6805640 AKT phosphorylates KAT6A
R-HSA-6805638 KAT6A acetylates TP53
R-HSA-6805650 MTA2-NuRD complex deacetylates TP53
R-HSA-3318486 KAT6A, KAT6B-containing ING5 complexes acetylate replicative histone H3
R-HSA-3214847 HATs acetylate histones
R-HSA-6804758 Regulation of TP53 Activity through Acetylation
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-4839726 Chromatin organization
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000265713.1, ENST00000265713.2, ENST00000265713.3, ENST00000265713.4, ENST00000265713.5, ENST00000265713.6, ENST00000265713.7, KAT6A_HUMAN, MOZ, MYST3, NM_006766, Q76L81, Q92794, RUNXBP2, uc317idl.1, uc317idl.2, ZNF220
UCSC ID: ENST00000265713.8_13
RefSeq Accession: NM_006766.5
Protein: Q92794 (aka KAT6A_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.