Human Gene KAT2A (uc002hyx.2) Description and Page Index
  Description: Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.
RefSeq Summary (NM_021078): KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC039907.1, BC032743.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225916.10/ ENSP00000225916.5 RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr17:40,265,129-40,273,382 Size: 8,254 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr17:40,265,667-40,273,322 Size: 7,656 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:40,265,129-40,273,382)mRNA (may differ from genome)Protein (837 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: KAT2A_HUMAN
DESCRIPTION: RecName: Full=Histone acetyltransferase KAT2A; EC=2.3.1.48; AltName: Full=General control of amino acid synthesis protein 5-like 2; AltName: Full=Histone acetyltransferase GCN5; Short=HsGCN5; AltName: Full=Lysine acetyltransferase 2A; AltName: Full=STAF97;
FUNCTION: Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Acetylation of histones gives a specific tag for epigenetic transcription activation. Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.
CATALYTIC ACTIVITY: Acetyl-CoA + [histone] = CoA + acetyl- [histone].
SUBUNIT: Interacts with EP300, CREBBP and ADA2. Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L, TAF3, TADA3L, SUPT3H/SPT3, TAF2/TAFII150, TAF4/TAFII135, TAF5/TAFII100, KAT2A/GCN5L2, TAF10 and TRRAP. Interacts with TRRAP. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, KAT2A, SUPT7L, TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Interacts with and acetylates HIV-1 Tat. Component of the ADA2A-containing complex (ATAC), composed of CSRP2BP, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. In the complex, it probably interacts directly with CSRP2BP, MBIP and WDR5.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in all tissues tested, with most abundant expression in ovary.
SIMILARITY: Belongs to the GCN5 family.
SIMILARITY: Contains 1 bromo domain.
SIMILARITY: Contains 1 N-acetyltransferase domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KAT2A
CDC HuGE Published Literature: KAT2A

-  MalaCards Disease Associations
  MalaCards Gene Search: KAT2A
Diseases sorted by gene-association score: hiv-1 (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 105.58 RPKM in Ovary
Total median expression: 2366.37 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.3060-0.522 Picture PostScript Text
3' UTR -227.70538-0.423 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
IPR001487 - Bromodomain
IPR018359 - Bromodomain_CS
IPR000182 - GNAT_dom
IPR016376 - Hist_acetylase_PCAF
IPR009464 - PCAF_N

Pfam Domains:
PF00439 - Bromodomain
PF00583 - Acetyltransferase (GNAT) family
PF06466 - PCAF (P300/CBP-associated factor) N-terminal domain
PF13673 - Acetyltransferase (GNAT) domain

SCOP Domains:
47370 - Bromodomain
55729 - Acyl-CoA N-acyltransferases (Nat)

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1F68
- NMR MuPIT

1Z4R
- X-ray MuPIT

3D7C
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q92830
FrontTopSide
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 orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003682 chromatin binding
GO:0003713 transcription coactivator activity
GO:0004402 histone acetyltransferase activity
GO:0005515 protein binding
GO:0008080 N-acetyltransferase activity
GO:0008134 transcription factor binding
GO:0010484 H3 histone acetyltransferase activity
GO:0016407 acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0019903 protein phosphatase binding
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity
GO:0042826 histone deacetylase binding
GO:0043997 histone acetyltransferase activity (H4-K12 specific)
GO:0061733 peptide-lysine-N-acetyltransferase activity

Biological Process:
GO:0001701 in utero embryonic development
GO:0001756 somitogenesis
GO:0001816 cytokine production
GO:0001843 neural tube closure
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007399 nervous system development
GO:0007507 heart development
GO:0007616 long-term memory
GO:0008283 cell proliferation
GO:0014070 response to organic cyclic compound
GO:0016032 viral process
GO:0016573 histone acetylation
GO:0016578 histone deubiquitination
GO:0016579 protein deubiquitination
GO:0018393 internal peptidyl-lysine acetylation
GO:0021537 telencephalon development
GO:0022037 metencephalon development
GO:0030901 midbrain development
GO:0031346 positive regulation of cell projection organization
GO:0031647 regulation of protein stability
GO:0031667 response to nutrient levels
GO:0035066 positive regulation of histone acetylation
GO:0035264 multicellular organism growth
GO:0035948 positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter
GO:0043966 histone H3 acetylation
GO:0043983 histone H4-K12 acetylation
GO:0044154 histone H3-K14 acetylation
GO:0045589 regulation of regulatory T cell differentiation
GO:0045815 positive regulation of gene expression, epigenetic
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046600 negative regulation of centriole replication
GO:0048167 regulation of synaptic plasticity
GO:0048312 intracellular distribution of mitochondria
GO:0050863 regulation of T cell activation
GO:0055007 cardiac muscle cell differentiation
GO:0060173 limb development
GO:0071356 cellular response to tumor necrosis factor
GO:0071929 alpha-tubulin acetylation
GO:1990090 cellular response to nerve growth factor stimulus
GO:2000679 positive regulation of transcription regulatory region DNA binding

Cellular Component:
GO:0000123 histone acetyltransferase complex
GO:0000790 nuclear chromatin
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005671 Ada2/Gcn5/Ada3 transcription activator complex
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0030914 STAGA complex
GO:0033276 transcription factor TFTC complex
GO:0072686 mitotic spindle
GO:0045252 oxoglutarate dehydrogenase complex


-  Descriptions from all associated GenBank mRNAs
  BC105977 - Homo sapiens K(lysine) acetyltransferase 2A, mRNA (cDNA clone MGC:102791 IMAGE:6137532), complete cds.
BC039907 - Homo sapiens K(lysine) acetyltransferase 2A, mRNA (cDNA clone MGC:47610 IMAGE:6064838), complete cds.
AF029777 - Homo sapiens histone acetyltransferase (GCN5) mRNA, partial cds.
BC032743 - Homo sapiens K(lysine) acetyltransferase 2A, mRNA (cDNA clone MGC:45022 IMAGE:5575574), complete cds.
JD358106 - Sequence 339130 from Patent EP1572962.
JD213900 - Sequence 194924 from Patent EP1572962.
JD403095 - Sequence 384119 from Patent EP1572962.
JD293148 - Sequence 274172 from Patent EP1572962.
JD497227 - Sequence 478251 from Patent EP1572962.
JD145684 - Sequence 126708 from Patent EP1572962.
JD535620 - Sequence 516644 from Patent EP1572962.
JD371719 - Sequence 352743 from Patent EP1572962.
JD391749 - Sequence 372773 from Patent EP1572962.
JD398246 - Sequence 379270 from Patent EP1572962.
JD470560 - Sequence 451584 from Patent EP1572962.
JD336219 - Sequence 317243 from Patent EP1572962.
JD458229 - Sequence 439253 from Patent EP1572962.
JD345498 - Sequence 326522 from Patent EP1572962.
JD122668 - Sequence 103692 from Patent EP1572962.
AB527835 - Synthetic construct DNA, clone: pF1KB5897, Homo sapiens KAT2A gene for K(lysine) acetyltransferase 2A, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04330 - Notch signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q92830 (Reactome details) participates in the following event(s):

R-HSA-5250930 B-WICH recruits histone acetyltransferases
R-HSA-212356 Formation of CSL-NICD coactivator complex
R-HSA-1912394 NICD1 in complex with RBPJ (CSL) recruits MAML
R-HSA-2220964 NICD1 PEST domain mutants in complex with RBPJ (CSL) bind MAML
R-HSA-1912391 NICD1 is phosphorylated by CDK8
R-NUL-2065178 CDK8 phosphorylates xNICD1
R-HSA-2220971 CDK8 phosphorylates NICD1 PEST domain mutants
R-NUL-4549228 KAT2A acetylates replicative histone H3
R-HSA-5250938 B-WICH:histone acetyltransferase acetylates histone H3 at lysine-9
R-HSA-1912393 MAML in complex with NICD1 recruits CDK8
R-HSA-4396347 NOTCH1 Coactivator Complex binds HES1 promoter
R-HSA-4396371 NOTCH1 Coactivator Complex binds MYC promoter
R-HSA-4396379 NOTCH1 Coactivator Complex binds HES5 promoter
R-HSA-4396382 NOTCH1 Coactivator Complex binds promoters of HEY genes
R-HSA-8878220 RUNX3 binds the NOTCH1 coactivator complex
R-HSA-9017835 NOTCH1 coactivator complex binds NOTCH3 gene
R-NUL-2064916 MAML recruits CDK8:CCNC to xNICD1
R-NUL-4396363 mNICD1 Chimeric Enhancer Complex binds Hes1 promoter
R-HSA-2220957 NOTCH1 PEST domain mutants coactivator complex binds CDK8:CCNC
R-HSA-4396392 NOTCH1 PEST domain mutants bind HES1 promoter
R-HSA-4396393 NOTCH1 PEST domain mutants bind MYC promoter
R-HSA-4396401 NOTCH1 PEST domain mutants bind HES5 promoter
R-HSA-4396402 NOTCH1 PEST domain mutants bind promoters of HEY genes
R-HSA-73736 Acetylation of SL1
R-HSA-3301237 KAT2 complexes acetylate histone H3
R-HSA-5690080 USP3,SAGA deubiquitinate Histone H2A,H2B
R-HSA-8878237 RUNX3:NOTCH1 coactivator complex binds the HES1 gene promoter
R-HSA-9021451 NOTCH1,NOTCH3 coactivator complex binds PLXND1 gene promoter
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-157052 NICD traffics to nucleus
R-HSA-350054 Notch-HLH transcription pathway
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-5250913 Positive epigenetic regulation of rRNA expression
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-1912408 Pre-NOTCH Transcription and Translation
R-HSA-212436 Generic Transcription Pathway
R-HSA-1980143 Signaling by NOTCH1
R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer
R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-3214847 HATs acetylate histones
R-HSA-5689880 Ub-specific processing proteases
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
R-HSA-8878159 Transcriptional regulation by RUNX3
R-HSA-1912422 Pre-NOTCH Expression and Processing
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-157118 Signaling by NOTCH
R-HSA-2644603 Signaling by NOTCH1 in Cancer
R-HSA-73854 RNA Polymerase I Promoter Clearance
R-HSA-74160 Gene expression (Transcription)
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-5688426 Deubiquitination
R-HSA-9012852 Signaling by NOTCH3
R-HSA-162582 Signal Transduction
R-HSA-5663202 Diseases of signal transduction
R-HSA-73864 RNA Polymerase I Transcription
R-HSA-4839726 Chromatin organization
R-HSA-597592 Post-translational protein modification
R-HSA-1643685 Disease
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: GCN5, GCN5L2, HGCN5, KAT2A_HUMAN, NM_021078, NP_066564, Q8N1A2, Q92830, Q9UCW1
UCSC ID: uc002hyx.2
RefSeq Accession: NM_021078
Protein: Q92830 (aka KAT2A_HUMAN)
CCDS: CCDS11417.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_021078.2
exon count: 18CDS single in 3' UTR: no RNA size: 3127
ORF size: 2514CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4565.00frame shift in genome: no % Coverage: 99.52
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.