Human Gene KAT8 (ENST00000543774.6) Description and Page Index
  Description: Histone acetyltransferase which may be involved in transcriptional activation. May influence the function of ATM. As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. That activity is less specific than the one of the MSL complex. (from UniProt Q9H7Z6)
RefSeq Summary (NM_032188): This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012].
Gencode Transcript: ENST00000543774.6
Gencode Gene: ENSG00000103510.20
Transcript (Including UTRs)
   Position: hg38 chr16:31,115,754-31,131,393 Size: 15,640 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr16:31,117,682-31,131,259 Size: 13,578 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:31,115,754-31,131,393)mRNA (may differ from genome)Protein (458 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtPubMedReactomeStanford SOURCE
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: KAT8_HUMAN
DESCRIPTION: RecName: Full=Histone acetyltransferase KAT8; EC=2.3.1.48; AltName: Full=Lysine acetyltransferase 8; AltName: Full=MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1; Short=MYST-1; Short=hMOF;
FUNCTION: Histone acetyltransferase which may be involved in transcriptional activation. May influence the function of ATM. As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. That activity is less specific than the one of the MSL complex.
CATALYTIC ACTIVITY: Acetyl-CoA + [histone] = CoA + acetyl- [histone].
SUBUNIT: Component of a multisubunit histone acetyltransferase complex (MSL) at least composed of the MOF/KAT8, MSL1/hampin, MSL2L1 and MSL3L1. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MOF/KAT8, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with the chromodomain of MORF4L1/MRG15. Interacts with ATM through the chromodomain. Interacts with KANSL1; the interaction is direct.
INTERACTION: Q03164:MLL; NbExp=3; IntAct=EBI-896414, EBI-591370; Q99496:RNF2; NbExp=2; IntAct=EBI-896414, EBI-722416;
SUBCELLULAR LOCATION: Nucleus. Chromosome (By similarity).
PTM: Autoacetylation at Lys-274 is required for proper function.
SIMILARITY: Belongs to the MYST (SAS/MOZ) family.
SIMILARITY: Contains 1 C2HC-type zinc finger.
SIMILARITY: Contains 1 chromo domain.
SEQUENCE CAUTION: Sequence=AAL55762.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAL56648.1; Type=Frameshift; Positions=23, 26, 52;

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.90 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 1023.76 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 -100.10335-0.299 Picture PostScript Text
3' UTR -38.10134-0.284 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
IPR000953 - Chromo_domain/shadow
IPR016197 - Chromodomain-like
IPR002717 - MOZ_SAS
IPR025995 - Tudor-knot

Pfam Domains:
PF01853 - MOZ/SAS family
PF11717 - RNA binding activity-knot of a chromodomain

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

2GIV
- X-ray MuPIT

2PQ8
- X-ray MuPIT

2Y0M
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
3QAH - X-ray MuPIT 3TOA - X-ray MuPIT 3TOB - X-ray MuPIT
4DNC - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9H7Z6
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004402 histone acetyltransferase 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:0019899 enzyme binding
GO:0035064 methylated histone binding
GO:0046872 metal ion binding
GO:0043995 histone acetyltransferase activity (H4-K5 specific)
GO:0043996 histone acetyltransferase activity (H4-K8 specific)
GO:0046972 histone acetyltransferase activity (H4-K16 specific)

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0010506 regulation of autophagy
GO:0016573 histone acetylation
GO:0030099 myeloid cell differentiation
GO:0043981 histone H4-K5 acetylation
GO:0043982 histone H4-K8 acetylation
GO:0043984 histone H4-K16 acetylation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated

Cellular Component:
GO:0000123 histone acetyltransferase complex
GO:0000776 kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0071339 MLL1 complex
GO:0072487 MSL complex


-  Descriptions from all associated GenBank mRNAs
  AK225660 - Homo sapiens mRNA for Splice isoform 2 of Q9H7Z6 variant, clone: STM04995.
LQ871062 - Sequence 5 from Patent EP3369434.
LQ871063 - Sequence 6 from Patent EP3369434.
LX156537 - WO 2017073692-A/5: Inhibitor of methylation-related enzyme HAT1 and KAT8.
LX156538 - WO 2017073692-A/6: Inhibitor of methylation-related enzyme HAT1 and KAT8.
LF207925 - JP 2014500723-A/15428: Polycomb-Associated Non-Coding RNAs.
MA443502 - JP 2018138019-A/15428: Polycomb-Associated Non-Coding RNAs.
AK024102 - Homo sapiens cDNA FLJ14040 fis, clone HEMBA1005513, weakly similar to MALES-ABSENT ON THE FIRST PROTEIN (EC 2.3.1.-).
AK291106 - Homo sapiens cDNA FLJ78028 complete cds.
AK021872 - Homo sapiens cDNA FLJ11810 fis, clone HEMBA1006347, moderately similar to MALES-ABSENT ON THE FIRST PROTEIN (EC 2.3.1.-).
BC037773 - Homo sapiens MYST histone acetyltransferase 1, mRNA (cDNA clone MGC:41769 IMAGE:5278026), complete cds.
AB463911 - Synthetic construct DNA, clone: pF1KB7789, Homo sapiens MYST1 gene for MYST histone acetyltransferase 1, without stop codon, in Flexi system.
AF217501 - Homo sapiens histone acetyltransferase MYST1 (MYST1) mRNA, complete cds.
AF260665 - Homo sapiens histone acetyltransferase (MOF) mRNA, partial cds.
LQ871064 - Sequence 7 from Patent EP3369434.
LQ871065 - Sequence 8 from Patent EP3369434.
LQ871066 - Sequence 9 from Patent EP3369434.
LX156539 - WO 2017073692-A/7: Inhibitor of methylation-related enzyme HAT1 and KAT8.
LX156540 - WO 2017073692-A/8: Inhibitor of methylation-related enzyme HAT1 and KAT8.
LX156541 - WO 2017073692-A/9: Inhibitor of methylation-related enzyme HAT1 and KAT8.
LQ871079 - Sequence 22 from Patent EP3369434.
LX156554 - WO 2017073692-A/22: Inhibitor of methylation-related enzyme HAT1 and KAT8.
LF370040 - JP 2014500723-A/177543: Polycomb-Associated Non-Coding RNAs.
MA605617 - JP 2018138019-A/177543: Polycomb-Associated Non-Coding RNAs.
AF289578 - Homo sapiens clone pp7073 unknown mRNA.
LQ871081 - Sequence 24 from Patent EP3369434.
LX156556 - WO 2017073692-A/24: Inhibitor of methylation-related enzyme HAT1 and KAT8.
LQ871080 - Sequence 23 from Patent EP3369434.
LX156555 - WO 2017073692-A/23: Inhibitor of methylation-related enzyme HAT1 and KAT8.
AL050395 - Homo sapiens mRNA; cDNA DKFZp586D1020 (from clone DKFZp586D1020).
LQ871082 - Sequence 25 from Patent EP3369434.
LX156557 - WO 2017073692-A/25: Inhibitor of methylation-related enzyme HAT1 and KAT8.
LF370044 - JP 2014500723-A/177547: Polycomb-Associated Non-Coding RNAs.
MA605621 - JP 2018138019-A/177547: Polycomb-Associated Non-Coding RNAs.
LF370045 - JP 2014500723-A/177548: Polycomb-Associated Non-Coding RNAs.
MA605622 - JP 2018138019-A/177548: Polycomb-Associated Non-Coding RNAs.
JD042801 - Sequence 23825 from Patent EP1572962.
JD312309 - Sequence 293333 from Patent EP1572962.
JD400161 - Sequence 381185 from Patent EP1572962.
JD304006 - Sequence 285030 from Patent EP1572962.

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

Protein Q9H7Z6 (Reactome details) participates in the following event(s):

R-HSA-3321883 MSL acetylates histone H4
R-HSA-3321805 NSL acetylates histone H4
R-HSA-3214847 HATs acetylate histones
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4Z1, G5E9P2, KAT8_HUMAN, LQ871062, MOF, MYST1, PP7073, Q659G0, Q7LC17, Q8IY59, Q8WYB4, Q8WZ14, Q9H7Z6, Q9HAC5, Q9NR35, uc002eay.1, uc002eay.2, uc002eay.3, uc002eay.4
UCSC ID: uc002eay.4
RefSeq Accession: NM_032188
Protein: Q9H7Z6 (aka KAT8_HUMAN)
CCDS: CCDS10706.1

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