Human Gene KAT2B (ENST00000263754.5_4) from GENCODE V47lift37
  Description: lysine acetyltransferase 2B (from RefSeq NM_003884.5)
Gencode Transcript: ENST00000263754.5_4
Gencode Gene: ENSG00000114166.8_7
Transcript (Including UTRs)
   Position: hg19 chr3:20,081,938-20,195,896 Size: 113,959 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr3:20,081,970-20,194,017 Size: 112,048 Coding Exon Count: 18 

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 (chr3:20,081,938-20,195,896)mRNA (may differ from genome)Protein (832 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KAT2B_HUMAN
DESCRIPTION: RecName: Full=Histone acetyltransferase KAT2B; EC=2.3.1.48; AltName: Full=Histone acetyltransferase PCAF; Short=Histone acetylase PCAF; AltName: Full=Lysine acetyltransferase 2B; AltName: Full=P300/CBP-associated factor; Short=P/CAF;
FUNCTION: Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles. Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A. 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.
CATALYTIC ACTIVITY: Acetyl-CoA + [histone] = CoA + acetyl- [histone].
SUBUNIT: Interacts with SIRT1. Interacts (unsumoylated form) with NR2C1; the interaction promotes transactivation activity (By similarity). Interacts with EP300, CREBBP and DDX17. Interacts with NCOA1 and NCOA3. Component of a large chromatin remodeling complex, at least composed of MYSM1, KAT2B/PCAF, RBM10 and KIF11/TRIP5. Interacts with NR2C2 (hypophosphorylated and unsumoylated form); the interaction promotes the transactivation activity of NR2C2. Binds to HTLV-1 Tax. Interacts with and acetylates HIV-1 Tat. Interacts with KLF1; the interaction does not acetylate KLF1 and there is no enhancement of its transactivational activity. Interacts with NFE4. Interacts with MECOM. Interacts with E2F1; the interaction acetylates E2F1 augmenting its DNA-binding and transcriptional activity.
INTERACTION: Q92793:CREBBP; NbExp=3; IntAct=EBI-477430, EBI-81215; Q09472:EP300; NbExp=2; IntAct=EBI-477430, EBI-447295; Q16665:HIF1A; NbExp=2; IntAct=EBI-477430, EBI-447269; P02299:His3:CG33854 (xeno); NbExp=2; IntAct=EBI-477430, EBI-522090; P84040:His4:CG33909 (xeno); NbExp=2; IntAct=EBI-477430, EBI-185028; Q96EB6:SIRT1; NbExp=3; IntAct=EBI-477430, EBI-1802965; Q8IXJ6:SIRT2; NbExp=4; IntAct=EBI-477430, EBI-477232; Q16594:TAF9; NbExp=3; IntAct=EBI-477430, EBI-712521; Q15672:TWIST1; NbExp=2; IntAct=EBI-477430, EBI-1797287; P22415:USF1; NbExp=5; IntAct=EBI-477430, EBI-1054489;
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Ubiquitously expressed but most abundant in heart and skeletal muscle.
DOMAIN: The bromodomain mediates binding to HIV-1 Tat.
SIMILARITY: Belongs to the GCN5 family.
SIMILARITY: Contains 1 bromo domain.
SIMILARITY: Contains 1 N-acetyltransferase domain.

-  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: KAT2B
Diseases sorted by gene-association score: spinocerebellar ataxia 7 (9), holt-oram syndrome (5), hiv-1 (5)

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

+  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: 23.59 RPKM in Brain - Amygdala
Total median expression: 586.71 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 -11.0032-0.344 Picture PostScript Text
3' UTR -418.801879-0.223 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

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

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1CM0 - X-ray MuPIT 1JM4 - NMR MuPIT 1N72 - NMR MuPIT 1WUG - NMR MuPIT 1WUM - NMR MuPIT 1ZS5 - NMR MuPIT 2RNW - NMR 2RNX - NMR 3GG3 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q92831
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 orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene Details   Gene DetailsGene Details
Gene Sorter   Gene SorterGene Sorter
  Ensembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0003682 chromatin binding
GO:0003712 transcription cofactor activity
GO:0003713 transcription coactivator activity
GO:0004402 histone acetyltransferase activity
GO:0004468 lysine N-acetyltransferase activity, acting on acetyl phosphate as donor
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0016407 acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0019901 protein kinase binding
GO:0042826 histone deacetylase binding
GO:0044877 macromolecular complex binding
GO:0061733 peptide-lysine-N-acetyltransferase activity

Biological Process:
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006473 protein acetylation
GO:0007049 cell cycle
GO:0007050 cell cycle arrest
GO:0007219 Notch signaling pathway
GO:0007221 positive regulation of transcription of Notch receptor target
GO:0007507 heart development
GO:0008285 negative regulation of cell proliferation
GO:0010835 regulation of protein ADP-ribosylation
GO:0016032 viral process
GO:0016573 histone acetylation
GO:0018076 N-terminal peptidyl-lysine acetylation
GO:0018393 internal peptidyl-lysine acetylation
GO:0018394 peptidyl-lysine acetylation
GO:0032869 cellular response to insulin stimulus
GO:0035948 positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter
GO:0043966 histone H3 acetylation
GO:0043970 histone H3-K9 acetylation
GO:0045652 regulation of megakaryocyte differentiation
GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0045747 positive regulation of Notch signaling pathway
GO:0045815 positive regulation of gene expression, epigenetic
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046600 negative regulation of centriole replication
GO:0048511 rhythmic process
GO:0060173 limb development

Cellular Component:
GO:0000123 histone acetyltransferase complex
GO:0000125 PCAF complex
GO:0000776 kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005671 Ada2/Gcn5/Ada3 transcription activator complex
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0031672 A band
GO:0031674 I band
GO:0032991 macromolecular complex
GO:0042641 actomyosin


-  Descriptions from all associated GenBank mRNAs
  U57317 - Homo sapiens p300/CBP-associated factor (P/CAF) mRNA, complete cds.
LF385201 - JP 2014500723-A/192704: Polycomb-Associated Non-Coding RNAs.
BC070075 - Homo sapiens K(lysine) acetyltransferase 2B, mRNA (cDNA clone MGC:87369 IMAGE:30333414), complete cds.
BC060823 - Homo sapiens K(lysine) acetyltransferase 2B, mRNA (cDNA clone MGC:71679 IMAGE:30336561), complete cds.
AB527402 - Synthetic construct DNA, clone: pF1KE0100, Homo sapiens PCAF gene for K(lysine) acetyltransferase 2B, without stop codon, in Flexi system.
AL832173 - Homo sapiens mRNA; cDNA DKFZp686I1416 (from clone DKFZp686I1416).
MA620778 - JP 2018138019-A/192704: Polycomb-Associated Non-Coding RNAs.
JD152138 - Sequence 133162 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_rarrxrPathway - Nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells
h_pcafpathway - The information-processing pathway at the IFN-beta enhancer
h_vdrPathway - Control of Gene Expression by Vitamin D Receptor

Reactome (by CSHL, EBI, and GO)

Protein Q92831 (Reactome details) participates in the following event(s):

R-HSA-2032794 WWTR1 (TAZ), TBX5, and PCAF form a complex
R-HSA-5250930 B-WICH recruits histone acetyltransferases
R-HSA-8935740 RUNX1 and GATA1 bind the promoter of the ITGA2B gene
R-HSA-8936616 RUNX1 and GATA1 bind the promoter of the GP1BA gene
R-HSA-8936979 RUNX1 and GATA1 bind the promoter of the THBS1 gene
R-HSA-8937037 RUNX1 and GATA1 bind the promoter of the MIR27A gene
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-HSA-9023860 Histone acetyltransferases are recruited to the TFF1 gene
R-HSA-5250938 B-WICH:histone acetyltransferase acetylates histone H3 at lysine-9
R-HSA-5691381 MYSM1 deubiquitinates Histone H2A
R-HSA-8936481 Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter
R-HSA-8936621 Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter
R-HSA-8937016 Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter
R-HSA-8937050 Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter
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-8878237 RUNX3:NOTCH1 coactivator complex binds the HES1 gene promoter
R-HSA-9021451 NOTCH1,NOTCH3 coactivator complex binds PLXND1 gene promoter
R-HSA-3301237 KAT2 complexes acetylate histone H3
R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
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-9018519 Estrogen-dependent gene expression
R-HSA-212436 Generic Transcription Pathway
R-HSA-5250913 Positive epigenetic regulation of rRNA expression
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-5689901 Metalloprotease DUBs
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-1912408 Pre-NOTCH Transcription and Translation
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-8939211 ESR-mediated signaling
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-5688426 Deubiquitination
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-157118 Signaling by NOTCH
R-HSA-2644603 Signaling by NOTCH1 in Cancer
R-HSA-73854 RNA Polymerase I Promoter Clearance
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-74160 Gene expression (Transcription)
R-HSA-597592 Post-translational protein modification
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-3214847 HATs acetylate histones
R-HSA-392499 Metabolism of proteins
R-HSA-1643685 Disease
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000263754.1, ENST00000263754.2, ENST00000263754.3, ENST00000263754.4, KAT2B , KAT2B_HUMAN, NM_003884, PCAF , Q6NSK1, Q92831, uc317hmf.1, uc317hmf.2
UCSC ID: ENST00000263754.5_4
RefSeq Accession: NM_003884.5
Protein: Q92831 (aka KAT2B_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.