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KAT6A Gene

protein-coding   GIFtS: 54
GCID: GC08M041786

K(Lysine) Acetyltransferase 6A

(Previous names: runt-related transcription factor binding protein 2, MYST...)
(Previous symbols: ZNF220, RUNXBP2, MYST3)
  See KAT6A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
K(Lysine) Acetyltransferase 6A1 2     Runt-Related Transcription Factor-Binding Protein 22 3
MYST31 2 3 5     Zinc Finger Protein 2202 3
ZNF2201 2 3 5     MYST-32 3
RUNXBP21 2 3     MOZ, YBF2/SAS3, SAS2 And TIP60 Protein 32 3
Monocytic Leukemia Zinc Finger Protein1 2 3     ZC2HC6A2
MOZ2 3 5     Histone Acetyltransferase KAT6A2
MYST Histone Acetyltransferase (Monocytic Leukemia) 31 2     Histone Acetyltransferase MYST32
Runt-Related Transcription Factor Binding Protein 21 2     EC 2.3.1.483

External Ids:    HGNC: 130131   Entrez Gene: 79942   Ensembl: ENSG000000831687   OMIM: 6014085   UniProtKB: Q927943   

Export aliases for KAT6A gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 acute myeloid leukemia with t(8;16)(p11;p13). GO annotations related to this gene include transcription coactivator activity and chromatin binding. An important paralog of this gene is KAT6B.

UniProtKB/Swiss-Prot: KAT6A_HUMAN, Q92794
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

Gene Wiki entry for KAT6A (MYST3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KAT6A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKAT6A promoter sequence
   Search Chromatin IP Primers for KAT6A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KAT6A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11   Ensembl cytogenetic band:  8p11.21   HGNC cytogenetic band: 8p11

KAT6A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KAT6A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M041786:  view genomic region     (about GC identifiers)

Start:
41,786,997 bp from pter      End:
41,909,508 bp from pter
Size:
122,512 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KAT6A_HUMAN, Q92794 (See protein sequence)
Recommended Name: Histone acetyltransferase KAT6A  
Size: 2004 amino acids; 225028 Da
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. Interacts with p53/TP53. Interacts with PML (isoform PML-4) and this interaction positively regulates its
acetylation activity towards p53/TP53
Selected PDB 3D structures from and Proteopedia for KAT6A (see all 9):
1M36 (3D)        2LN0 (3D)        2OZU (3D)        2RC4 (3D)        3V43 (3D)        4LJN (3D)    
Secondary accessions: Q76L81

Explore the universe of human proteins at neXtProt for KAT6A: NX_Q92794

Explore proteomics data for KAT6A at MOPED

Post-translational modifications: 

  • Autoacetylation at Lys-604 is required for proper function (By similarity). Autoacetylated1
  • Phosphorylation at Thr-369 by PKB/AKT1 inhibits its interaction with PML and negatively regulates its acetylation
    activity towards p53/TP531
  • Ubiquitination2 at Lys415
  • Modification sites at PhosphoSitePlus

  • See KAT6A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001092882.1  NP_001092883.1  NP_006757.2  

    ENSEMBL proteins: 
     ENSP00000265713   ENSP00000385888   ENSP00000399638   ENSP00000430606   ENSP00000396699  
     ENSP00000380136  
    Reactome Protein details: Q92794

    KAT6A Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for KAT6A (2 products) 

     
    antibodies-online peptides for KAT6A

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZC2HC: Zinc fingers, C2HC-type containing
    KAT: Chromatin-modifying enzymes / K-acetyltransferases
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 8):
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR013083 Znf_RING/FYVE/PHD
     IPR002717 MOZ_SAS
     IPR016181 Acyl_CoA_acyltransferase

    Graphical View of Domain Structure for InterPro Entry Q92794

    ProtoNet protein and cluster: Q92794

    4 Blocks protein domains:
    IPB001841 Zn-finger
    IPB001965 Zn-finger-like
    IPB002717 MOZ/SAS-like protein
    IPB005818 Histone H1/H5


    UniProtKB/Swiss-Prot: KAT6A_HUMAN, Q92794
    Domain: The N-terminus is involved in transcriptional activation while the C-terminus is involved in
    transcriptional repression
    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


    Find genes that share domains with KAT6A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KAT6A_HUMAN, Q92794
    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
    Catalytic activity: Acetyl-CoA + [histone] = CoA + acetyl-[histone]

         Enzyme Number (IUBMB): EC 2.3.1.481

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA17925393
    GO:0003682chromatin binding IEA--
    GO:0003713transcription coactivator activity TAS18794358
    GO:0004402histone acetyltransferase activity IDA11742995
    GO:0005515protein binding IPI11742995
         
    Find genes that share ontologies with KAT6A           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for KAT6A:
     Decreased Salmonella enterica   Increased cell death in HCC-19  Synthetic lethal with imatinib 

         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Kat6a) (see all 17):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  liver/biliary system  mortality/aging  nervous system 

    Find genes that share phenotypes with KAT6A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for KAT6A: Kat6atm2.2Avo Kat6atm1Iki Kat6atm1Avo

       genOway: Develop your customized and physiologically relevant rodent model for KAT6A

    miRNA
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    miRTarBase miRNAs that target KAT6A:
    hsa-mir-425-5p (MIRT016673), hsa-mir-193b-3p (MIRT041326), hsa-mir-877-3p (MIRT037040), hsa-mir-21-5p (MIRT031066), hsa-mir-296-3p (MIRT038467)

    Block miRNA regulation of human, mouse, rat KAT6A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KAT6A (see all 86):
    hsa-miR-548j hsa-miR-582-3p hsa-miR-300 hsa-miR-374a hsa-miR-3921 hsa-miR-3916 hsa-miR-548a-5p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidKAT6A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KAT6A

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    Addgene plasmids for KAT6A 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KAT6A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KAT6A_HUMAN, Q92794: Nucleus. Nucleus, nucleolus. Nucleus, nucleoplasm. Nucleus, PML body. Note=Recruited into
    PML body after DNA damage

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000786nucleosome IEA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005794Golgi apparatus IDA--

    Find genes that share ontologies with KAT6A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KAT6A About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34
    2Packaging Of Telomere Ends
    Histone modification0.31


    Find genes that share SuperPaths with KAT6A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KAT6A
        Transcriptional Regulatory Network in Embryonic Stem Cell

    1 Reactome Pathway for KAT6A
        HATs acetylate histones


        Pathway & Disease-focused RT2 Profiler PCR Array including KAT6A: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KAT6A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KAT6A (Q927941, 3 ENSP000002657134) via UniProtKB, MINT, STRING, and/or I2D (see all 115)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4HP628053, ENSP000002893524I2D: score=1 STRING: ENSP00000289352
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4FP628053, ENSP000003669744I2D: score=1 STRING: ENSP00000366974
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003007heart morphogenesis IEA--
    GO:0006323DNA packaging TAS8782817
    GO:0006325chromatin organization TAS--
    GO:0006334nucleosome assembly IEA--
    GO:0006351transcription, DNA-templated IEA--

    Find genes that share ontologies with KAT6A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KAT6A

    1 Novoseek inferred chemical compound relationship for KAT6A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 42.8 14 10497217 (2), 9731070 (2), 11243405 (2), 8782817 (1) (see all 6)



    Find genes that share compounds with KAT6A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KAT6A gene (3 alternative transcripts): 
    NM_001099412.1  NM_001099413.1  NM_006766.3  

    Unigene Cluster for KAT6A:

    K(lysine) acetyltransferase 6A
    Hs.491577  [show with all ESTs]
    Unigene Representative Sequence: NM_001099412
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265713(uc003xon.4) ENST00000406337(uc010lxc.3) ENST00000418721
    ENST00000485568(uc010lxd.3) ENST00000470574 ENST00000463961 ENST00000426524
    ENST00000396930(uc010lxb.3)
    miRNA
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    hsa-miR-548j hsa-miR-582-3p hsa-miR-300 hsa-miR-374a hsa-miR-3921 hsa-miR-3916 hsa-miR-548a-5p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidKAT6A 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat KAT6A

    Additional mRNA sequence: 

    AJ420560.1 AK027361.1 AK128323.1 BC018011.1 BC142659.1 BC142959.1 U47742.1 

    11 DOTS entries:

    DT.116553  DT.95167178  DT.97783556  DT.95167182  DT.97824812  DT.120633870  DT.92435594  DT.97841146 
    DT.120633834  DT.120633876  DT.92435587 

    Selected AceView cDNA sequences (see all 202):

    AK128323 AA612635 AW058356 AK027361 CD672254 BE218412 BF110806 AW001926 
    CA441307 AU185587 BM819207 W92572 BP375341 BE222315 AA384745 AI760188 
    AW473405 CA418840 AA583238 CR621706 CA433366 BX281074 AI969731 AL045032 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KAT6A    About this scheme

    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:                                                                                                                                                            


    ECgene alternative splicing isoforms for KAT6A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KAT6A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCACGCGCTC
    KAT6A Expression
    About this image


    KAT6A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
     
     Eye (Sensory Organs)
             Retina
    KAT6A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KAT6A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.491577
        Pathway & Disease-focused RT2 Profiler PCR Array including KAT6A: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KAT6A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KAT6A gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kat6a1 , 5 MYST histone acetyltransferase (monocytic leukemia) more5
    K(lysine) acetyltransferase 6A1
    85.28(n)1
    87.4(a)1
      8 (11.42 cM)5
    2443491  NM_001081149.11  NP_001074618.11 
     228595355 
    chicken
    (Gallus gallus)
    Aves KAT6A1 K(lysine) acetyltransferase 6A 78.56(n)
    81.7(a)
      426789  XM_424402.4  XP_424402.3 
    lizard
    (Anolis carolinensis)
    Reptilia KAT6A6
    K(lysine) acetyltransferase 6A
    79(a)
    1 ↔ 1
    GL343545.1(224878-271831)
    zebrafish
    (Danio rerio)
    Actinopterygii kat6a6
    K(lysine) acetyltransferase 6A
    53(a)
    1 ↔ 1
    5(16098238-16147039) ENSDARG00000018907
    fruit fly
    (Drosophila melanogaster)
    Insecta enok6
    enoki mushroom
    23(a)
    1 → many
    2R(19987404-19994557)
    worm
    (Caenorhabditis elegans)
    Secernentea lsy-126
    Protein LSY-12, isoform k (lsy-12) mRNA, complete ...
    25(a)
    1 → many
    V(9846157-9859963) WBGene00045419
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ESA16
    Catalytic subunit of the histone acetyltransferase...
    38(a)
    1 → many
    XV(792531-793868) YOR244W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KAT6A gene
    KAT6B2  KAT52  KAT72  KAT82  
    10 SIMAP similar genes for KAT6A using alignment to 3 protein entries:     KAT6A_HUMAN (see all proteins):
    MOZ/CBP    MYST3    KAT7    CBP/MOZ    DKFZp313G1618    KAT5
    KAT8    MYST4    KAT6B    MORF/CBP

    Find genes that share paralogs with KAT6A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for KAT6A (see all 2279)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1144072081,2
    C,F--41786536(+) ATGACG/AAATCT 3 -- ds50012Minor allele frequency- A:0.02WA EA 238
    rs1171719221,2
    C,F--41786776(+) TTACCG/ATGCCA 3 -- ds50011Minor allele frequency- A:0.03EA 120
    rs1388701881,2
    --41786820(+) TTGGCA/GTTTAA 3 -- ds50010--------
    rs1432307461,2
    --41787044(+) ACAGAA/GTTCTT 3 -- ut310--------
    rs1474766631,2
    --41787095(+) TACAAG/TGAGAG 3 -- ut310--------
    rs1399559161,2
    C--41787128(+) GAGCGC/TGTGAC 3 -- ut310--------
    rs115518081,2
    --41787156(+) CATCTA/TGGCAC 3 -- ut310--------
    rs1860227191,2
    --41787249(+) TAGACG/TTGGCT 3 -- ut310--------
    rs1913092561,2
    --41787260(+) TCCTTG/TGTACA 3 -- ut310--------
    rs29399831,2
    C,H--41787294(-) GTGAAT/CAGAGC 3 -- ut316Minor allele frequency- C:0.00NS EA NA 422

    HapMap Linkage Disequilibrium report for KAT6A (41786997 - 41909508 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KAT6A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659867CNV Deletion23128226
    esv2445048CNV Deletion19546169
    nsv521189CNV Loss19592680
    nsv831300CNV Loss17160897
    nsv824615CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KAT6A
    DNA2.0 Custom Variant and Variant Library Synthesis for KAT6A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601408    OMIM disorders: --

    UniProtKB/Swiss-Prot: KAT6A_HUMAN, Q92794
  • 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
  • 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

  • 6 diseases for KAT6A:    
    About MalaCards
    acute myeloid leukemia with t(8;16)(p11;p13) translocation    acute myeloid leukemia with t(8;16)(p11;p13)    subacute lymphocytic thyroiditis    neonatal leukemia
    leukemia    acute myeloid leukemia


    Find genes that share disorders with KAT6A           About GenesLikeMe

    5 Novoseek inferred disease relationships for KAT6A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    monocytic leukemia 86.6 11 10497217 (2), 17694082 (1), 10824998 (1), 9731070 (1) (see all 6)
    acute monocytic leukemia 86.2 5 10824998 (2), 9731070 (1), 11243405 (1)
    leukemogenesis 76.8 3 10824998 (1), 12893170 (1), 15160929 (1)
    leukemia 59.6 10 18657848 (1), 10862050 (1), 12771199 (1), 17697320 (1) (see all 10)
    chromosomal aberrations 48.4 2 14960713 (1), 12893170 (1)


    Export disorders for KAT6A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KAT6A gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with KAT6A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. (PubMed id 8782817)1, 2, 3, 9 Borrow J.... Housman D.E. (Nat. Genet. 1996)
    2. Activation of AML1-mediated transcription by MOZ and inhibition by the MOZ-CBP fusion protein. (PubMed id 11742995)1, 2, 9 Kitabayashi I.... Ohki M. (EMBO J. 2001)
    3. MOZ is fused to p300 in an acute monocytic leukemia with t(8;22). (PubMed id 10824998)1, 2, 9 Chaffanet M....Pebusque M.-J. (Genes Chromosomes Cancer 2000)
    4. Transcriptional regulation of the human MIP-1alpha promoter by RUNX1 and MOZ. (PubMed id 12771199)1, 2, 9 Bristow C.A.P. and Shore P. (Nucleic Acids Res. 2003)
    5. MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2. (PubMed id 11965546)1, 2, 9 Pelletier N.... Yang X.-J. (Oncogene 2002)
    6. A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia. (PubMed id 9558366)1, 2, 9 Carapeti M.... Cross N.C.P. (Blood 1998)
    7. MOZ increases p53 acetylation and premature senescence through its complex formation with PML. (PubMed id 23431171)1, 2 Rokudai S....Prives C. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    8. Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes. (PubMed id 18794358)1, 2 Ullah M....Yang X.-J. (Mol. Cell. Biol. 2008)
    9. The human monocytic leukemia zinc finger histone acetyltransferase domain contains DNA-binding activity implicated in chromatin targeting. (PubMed id 17925393)1, 2 Holbert M.A....Marmorstein R. (J. Biol. Chem. 2007)
    10. ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation. (PubMed id 16387653)1, 2 Doyon Y.... Cote J. (Mol. Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7994 HGNC: 13013 AceView: MYST3 Ensembl:ENSG00000083168 euGenes: HUgn7994
    ECgene: KAT6A H-InvDB: KAT6A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KAT6A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KAT6A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KAT6A gene:
    Search GeneIP for patents involving KAT6A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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