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Aliases for KAT6A Gene

Aliases for KAT6A Gene

  • K(Lysine) Acetyltransferase 6A 2 3
  • Monocytic Leukemia Zinc Finger Protein 2 3 4
  • MYST Histone Acetyltransferase (Monocytic Leukemia) 3 2 3
  • Runt-Related Transcription Factor Binding Protein 2 2 3
  • MOZ, YBF2/SAS3, SAS2 And TIP60 Protein 3 3 4
  • Zinc Finger Protein 220 3 4
  • RUNXBP2 3 4
  • ZNF220 3 4
  • MYST-3 3 4
  • MYST3 3 4
  • MOZ 3 4
  • Runt-Related Transcription Factor-Binding Protein 2 4
  • Histone Acetyltransferase MYST3 3
  • EC 2.3.1.48 4
  • ZC2HC6A 3
  • MRD32 3

External Ids for KAT6A Gene

Previous HGNC Symbols for KAT6A Gene

  • ZNF220
  • RUNXBP2
  • MYST3

Previous GeneCards Identifiers for KAT6A Gene

  • GC08M041786

Summaries for KAT6A Gene

Entrez Gene Summary for KAT6A Gene

  • This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with autosomal dominant mental retardation-32. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for KAT6A Gene

KAT6A (K(Lysine) Acetyltransferase 6A) is a Protein Coding gene. Diseases associated with KAT6A include acute myeloid leukemia with t(8;16)(p11;p13) translocation and mental retardation, autosomal dominant 32. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and Chromatin organization. GO annotations related to this gene include chromatin binding and transcription coactivator activity. An important paralog of this gene is KAT8.

UniProtKB/Swiss-Prot for KAT6A Gene

  • 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. Acetylates p53/TP53 at Lys-120 and Lys-382 and controls its transcriptional activity via association with PML.

Gene Wiki entry for KAT6A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KAT6A Gene

Genomics for KAT6A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KAT6A Gene

Chromosome:
8
Start:
41,929,479 bp from pter
End:
42,051,990 bp from pter
Size:
122,512 bases
Orientation:
Minus strand

Genomic View for KAT6A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KAT6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KAT6A Gene

No data available for Regulatory Elements for KAT6A Gene

Proteins for KAT6A Gene

  • Protein details for KAT6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92794-KAT6A_HUMAN
    Recommended name:
    Histone acetyltransferase KAT6A
    Protein Accession:
    Q92794
    Secondary Accessions:
    • Q76L81

    Protein attributes for KAT6A Gene

    Size:
    2004 amino acids
    Molecular mass:
    225028 Da
    Quaternary structure:
    • 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. Interacts with p53/TP53. Interacts with PML (isoform PML-4) and this interaction positively regulates its acetylation activity towards p53/TP53.

    Three dimensional structures from OCA and Proteopedia for KAT6A Gene

neXtProt entry for KAT6A Gene

Proteomics data for KAT6A Gene at MOPED

Post-translational modifications for KAT6A Gene

  • Autoacetylation at Lys-604 is required for proper function (By similarity). Autoacetylated.
  • Phosphorylation at Thr-369 by PKB/AKT1 inhibits its interaction with PML and negatively regulates its acetylation activity towards p53/TP53.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KAT6A Gene

Domains & Families for KAT6A Gene

Suggested Antigen Peptide Sequences for KAT6A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92794

UniProtKB/Swiss-Prot:

KAT6A_HUMAN :
  • The N-terminus is involved in transcriptional activation while the C-terminus is involved in transcriptional repression.
  • Belongs to the MYST (SAS/MOZ) family.
  • Contains 1 C2HC-type zinc finger.
Domain:
  • The N-terminus is involved in transcriptional activation while the C-terminus is involved in transcriptional repression.
  • Contains 1 H15 (linker histone H1/H5 globular) domain.
  • Contains 1 MYST-type HAT (histone acetyltransferase) domain.
Family:
  • Belongs to the MYST (SAS/MOZ) family.
Similarity:
  • Contains 1 C2HC-type zinc finger.
  • Contains 2 PHD-type zinc fingers.
genes like me logo Genes that share domains with KAT6A: view

Function for KAT6A Gene

Molecular function for KAT6A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + [histone] = CoA + acetyl-[histone].
UniProtKB/Swiss-Prot 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. Acetylates p53/TP53 at Lys-120 and Lys-382 and controls its transcriptional activity via association with PML.

Enzyme Numbers (IUBMB) for KAT6A Gene

Gene Ontology (GO) - Molecular Function for KAT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 17925393
GO:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity TAS 18794358
GO:0004402 histone acetyltransferase activity IDA 11742995
GO:0005515 protein binding IPI 11742995
genes like me logo Genes that share ontologies with KAT6A: view
genes like me logo Genes that share phenotypes with KAT6A: view

Animal Models for KAT6A Gene

MGI Knock Outs for KAT6A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KAT6A

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for KAT6A Gene

Localization for KAT6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KAT6A Gene

Nucleus. Nucleus, nucleolus. Nucleus, nucleoplasm. Nucleus, PML body. Note=Recruited into PML body after DNA damage.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KAT6A Gene COMPARTMENTS Subcellular localization image for KAT6A gene
Compartment Confidence
nucleus 5
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for KAT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0005634 nucleus IDA 11742995
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with KAT6A: view

Pathways & Interactions for KAT6A Gene

genes like me logo Genes that share pathways with KAT6A: view

Pathways by source for KAT6A Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for KAT6A Gene

Activates:

Gene Ontology (GO) - Biological Process for KAT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003007 heart morphogenesis IEA --
GO:0006323 DNA packaging TAS 8782817
GO:0006325 chromatin organization TAS --
GO:0006334 nucleosome assembly IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with KAT6A: view

Drugs & Compounds for KAT6A Gene

(2) Drugs for KAT6A Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 1404
Coenzyme A Nutra 0

(1) Additional Compounds for KAT6A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
genes like me logo Genes that share compounds with KAT6A: view

Transcripts for KAT6A Gene

Unigene Clusters for KAT6A Gene

K(lysine) acetyltransferase 6A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KAT6A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KAT6A Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: - - - -
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for KAT6A Gene

GeneLoc Exon Structure for
KAT6A
ECgene alternative splicing isoforms for
KAT6A

Expression for KAT6A Gene

mRNA expression in normal human tissues for KAT6A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KAT6A Gene

This gene is overexpressed in Lung (18.4), Peripheral blood mononuclear cells (13.3), Blymphocyte (7.5), Heart (7.4), and Neutrophil (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KAT6A Gene



SOURCE GeneReport for Unigene cluster for KAT6A Gene Hs.491577

genes like me logo Genes that share expression patterns with KAT6A: view

Protein tissue co-expression partners for KAT6A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KAT6A Gene

Orthologs for KAT6A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KAT6A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KAT6A 35
  • 86.72 (n)
  • 89.68 (a)
KAT6A 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KAT6A 35
  • 91.34 (n)
  • 93.85 (a)
KAT6A 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kat6a 35
  • 85.28 (n)
  • 87.4 (a)
Kat6a 16
Kat6a 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYST3 35
  • 99.64 (n)
  • 99.57 (a)
KAT6A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kat6a 35
  • 85.8 (n)
  • 87.15 (a)
oppossum
(Monodelphis domestica)
Mammalia KAT6A 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KAT6A 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves KAT6A 35
  • 78.56 (n)
  • 81.7 (a)
KAT6A 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KAT6A 36
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii kat6a 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta enok 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lsy-12 36
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESA1 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 73 (a)
OneToMany
Species with no ortholog for KAT6A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KAT6A Gene

ENSEMBL:
Gene Tree for KAT6A (if available)
TreeFam:
Gene Tree for KAT6A (if available)

Paralogs for KAT6A Gene

Paralogs for KAT6A Gene

(10) SIMAP similar genes for KAT6A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KAT6A: view

Variants for KAT6A Gene

Sequence variations from dbSNP and Humsavar for KAT6A Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs13748 -- 41,937,416(-) CCCAC(A/G)TTTGA synonymous-codon, reference
rs15329 -- 41,930,950(-) CCCTG(A/T)GAATC utr-variant-3-prime
rs1050989 -- 41,940,971(-) CTGCC(A/C)CGTCG synonymous-codon, reference
rs1050991 -- 41,932,020(-) TTGTT(C/G)TGGGT utr-variant-3-prime
rs1131463 -- 41,930,754(-) TAGGT(A/C/T)aaaaa utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KAT6A Gene

Variant ID Type Subtype PubMed ID
nsv831300 CNV Loss 17160897
esv2659867 CNV Deletion 23128226
esv2445048 CNV Deletion 19546169
nsv824615 CNV Gain 20364138
nsv521189 CNV Loss 19592680

Variation tolerance for KAT6A Gene

Residual Variation Intolerance Score: 2.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.94; 79.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KAT6A Gene

HapMap Linkage Disequilibrium report
KAT6A
Human Gene Mutation Database (HGMD)
KAT6A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KAT6A Gene

Disorders for KAT6A Gene

MalaCards: The human disease database

(9) MalaCards diseases for KAT6A Gene - From: OMIM, ClinVar, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
acute myeloid leukemia with t(8;16)(p11;p13) translocation
  • aml with t(8;16)(p11;p13) translocation
mental retardation, autosomal dominant 32
  • mrd32
monocytic leukemia
  • schilling's leukemia
acute monocytic leukemia
  • acute monocytic leukemia, morphology
neonatal leukemia
- elite association
Search KAT6A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KAT6A_HUMAN
  • Mental retardation, autosomal dominant 32 (MRD32) [MIM:616268]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD32 patients manifest intellectual disability, dysmorphic facial features, delayed psychomotor development, and lack of speech. {ECO:0000269 PubMed:25728775, ECO:0000269 PubMed:25728777}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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.

Relevant External Links for KAT6A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KAT6A
genes like me logo Genes that share disorders with KAT6A: view

No data available for Genatlas for KAT6A Gene

Publications for KAT6A Gene

  1. The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. (PMID: 8782817) Borrow J. … Housman D.E. (Nat. Genet. 1996) 2 23 67
  2. Evaluation of virtual screening as a tool for chemical genetic applications. (PMID: 19702241) Campagna-Slater V. … Schapira M. (J Chem Inf Model 2009) 23 67
  3. MYST family histone acetyltransferases take center stage in stem cells and development. (PMID: 19722182) Voss A.K. … Thomas T. (Bioessays 2009) 23 67
  4. Genome profiling of acute myelomonocytic leukemia: alteration of the MYB locus in MYST3-linked cases. (PMID: 18818702) Murati A. … Birnbaum D. (Leukemia 2009) 23 67
  5. An old HAT in human p300/CBP and yeast Rtt109. (PMID: 18583929) Bazan J.F. (Cell Cycle 2008) 23 67

Products for KAT6A Gene

Sources for KAT6A Gene

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