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Aliases for KAT8 Gene

Aliases for KAT8 Gene

  • Lysine Acetyltransferase 8 2 3 4 5
  • MOZ, YBF2/SAS3, SAS2 And TIP60 Protein 1 3 4
  • MYST Histone Acetyltransferase 1 2 3
  • K(Lysine) Acetyltransferase 8 2 3
  • MYST-1 3 4
  • MYST1 3 4
  • HMOF 3 4
  • MOF 3 4
  • Ortholog Of Drosophila Males Absent On The First (MOF) 3
  • Probable Histone Acetyltransferase MYST1 3
  • Histone Acetyltransferase MYST1 3
  • Histone Acetyltransferase KAT8 3
  • EC 2.3.1.48 4
  • ZC2HC8 3

External Ids for KAT8 Gene

Previous HGNC Symbols for KAT8 Gene

  • MYST1

Previous GeneCards Identifiers for KAT8 Gene

  • GC16P031130

Summaries for KAT8 Gene

Entrez Gene Summary for KAT8 Gene

  • 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]

GeneCards Summary for KAT8 Gene

KAT8 (Lysine Acetyltransferase 8) is a Protein Coding gene. Among its related pathways are Chromatin organization and p53 pathway (Pathway Interaction Database). GO annotations related to this gene include enzyme binding and histone acetyltransferase activity. An important paralog of this gene is KAT7.

UniProtKB/Swiss-Prot for KAT8 Gene

  • 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. Can also acetylate TP53/p53 at Lys-120.

Gene Wiki entry for KAT8 Gene

Additional gene information for KAT8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KAT8 Gene

Genomics for KAT8 Gene

Regulatory Elements for KAT8 Gene

Enhancers for KAT8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H030566 2.1 FANTOM5 Ensembl ENCODE dbSUPER 32.8 -545.9 -545880 6 ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZC3H11A SETD1A SRCAP ENSG00000260267 ZNF747 NPIPB13 INO80E ZNF764 C16orf58 SMG1P5 SMG1P2
GH16H031125 1.9 FANTOM5 Ensembl ENCODE dbSUPER 33.4 +15.4 15385 10 HDGF ARNT SIN3A ZNF766 ZNF207 ZNF548 SP3 MCM3 ZNF592 SREBF1 SRCAP SETD1A ENSG00000260267 SMG1P5 ZNF764 ENSG00000260304 KAT8 BCL7C TGFB1I1 ITGAX
GH16H031071 1.4 ENCODE dbSUPER 43.3 -42.1 -42114 4 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 SETD1A ZNF785 SRCAP KAT8 ZNF720 FBRS ZNF688 ZNF764 ZNF689 RNF40
GH16H030956 1.4 ENCODE dbSUPER 42.1 -157.9 -157863 3 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC MEF2D SSRP1 ZNF610 SETD1A SRCAP INO80E ENSG00000260267 ZNF764 ZNF747 SMG1P5 ENSG00000260304 BCL7C KAT8
GH16H031137 1.6 Ensembl ENCODE dbSUPER 36.3 +24.8 24817 5 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 KAT8 LOC647086 SETD1A RNF40 NPIPB13 ENSG00000261474 ZNF720 SRCAP CD2BP2 ZNF747
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KAT8 on UCSC Golden Path with GeneCards custom track

Promoters for KAT8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085305 1846 2001 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766

Genomic Location for KAT8 Gene

Chromosome:
16
Start:
31,115,754 bp from pter
End:
31,131,393 bp from pter
Size:
15,640 bases
Orientation:
Plus strand

Genomic View for KAT8 Gene

Genes around KAT8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KAT8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KAT8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KAT8 Gene

Proteins for KAT8 Gene

  • Protein details for KAT8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H7Z6-KAT8_HUMAN
    Recommended name:
    Histone acetyltransferase KAT8
    Protein Accession:
    Q9H7Z6
    Secondary Accessions:
    • A8K4Z1
    • G5E9P2
    • Q659G0
    • Q7LC17
    • Q8IY59
    • Q8WYB4
    • Q8WZ14
    • Q9HAC5
    • Q9NR35

    Protein attributes for KAT8 Gene

    Size:
    458 amino acids
    Molecular mass:
    52403 Da
    Quaternary structure:
    • Component of a multisubunit histone acetyltransferase complex (MSL) at least composed of the MOF/KAT8, MSL1/hampin, MSL2L1 and MSL3L1. Interacts with MSL1; the interaction is direct. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Interacts with KANSL1; the interaction is direct. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, 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.
    SequenceCaution:
    • Sequence=AAL55762.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAL56648.1; Type=Frameshift; Positions=23, 26, 52; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KAT8 Gene

    Alternative splice isoforms for KAT8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KAT8 Gene

Post-translational modifications for KAT8 Gene

  • Autoacetylation at Lys-274 is required for binding histone H4 with high affinity and for proper function.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KAT8 Gene

No data available for DME Specific Peptides for KAT8 Gene

Domains & Families for KAT8 Gene

Gene Families for KAT8 Gene

Suggested Antigen Peptide Sequences for KAT8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H7Z6

UniProtKB/Swiss-Prot:

KAT8_HUMAN :
  • Belongs to the MYST (SAS/MOZ) family.
Family:
  • Belongs to the MYST (SAS/MOZ) family.
genes like me logo Genes that share domains with KAT8: view

Function for KAT8 Gene

Molecular function for KAT8 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + [protein]-L-lysine = CoA + [protein]-N(6)-acetyl-L-lysine.
UniProtKB/Swiss-Prot 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. Can also acetylate TP53/p53 at Lys-120.

Enzyme Numbers (IUBMB) for KAT8 Gene

Phenotypes From GWAS Catalog for KAT8 Gene

Gene Ontology (GO) - Molecular Function for KAT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004402 histone acetyltransferase activity IDA,IEA 11742995
GO:0005515 protein binding IPI 11965546
GO:0008134 transcription factor binding IDA 11742995
GO:0016407 acetyltransferase activity IDA 11742995
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with KAT8: view
genes like me logo Genes that share phenotypes with KAT8: view

Animal Models for KAT8 Gene

MGI Knock Outs for KAT8:

Animal Model Products

  • Taconic Biosciences Mouse Models for KAT8

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KAT8
  • Applied Biological Materials Clones for KAT8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for KAT8 Gene

Localization for KAT8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KAT8 Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KAT8 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KAT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 20018852
GO:0000776 kinetochore IEA --
GO:0005634 nucleus IEA,IDA 11742995
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with KAT8: view

Pathways & Interactions for KAT8 Gene

genes like me logo Genes that share pathways with KAT8: view

Pathways by source for KAT8 Gene

1 GeneTex pathway for KAT8 Gene
1 Cell Signaling Technology pathway for KAT8 Gene
1 BioSystems pathway for KAT8 Gene

SIGNOR curated interactions for KAT8 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KAT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0010506 regulation of autophagy IDA 23863932
GO:0016569 covalent chromatin modification IEA --
GO:0016573 histone acetylation IDA 11742995
genes like me logo Genes that share ontologies with KAT8: view

Drugs & Compounds for KAT8 Gene

(5) Drugs for KAT8 Gene - From: ApexBio, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Donepezil HCl Pharma AChE inhibitor 0
MG 149 Pharma HAT inhibitor 0
Remodelin Pharma 0
MG149 Pharma 0
Coenzyme A Nutra 0

(1) Additional Compounds for KAT8 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

(3) ApexBio Compounds for KAT8 Gene

Compound Action Cas Number
Donepezil HCl AChE inhibitor 120011-70-3
MG 149 HAT inhibitor 1243583-85-8
Remodelin 1622921-15-6
genes like me logo Genes that share compounds with KAT8: view

Drug Products

Transcripts for KAT8 Gene

Unigene Clusters for KAT8 Gene

K(lysine) acetyltransferase 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KAT8
  • Applied Biological Materials Clones for KAT8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KAT8 Gene

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

Relevant External Links for KAT8 Gene

GeneLoc Exon Structure for
KAT8
ECgene alternative splicing isoforms for
KAT8

Expression for KAT8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KAT8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KAT8 Gene

This gene is overexpressed in Blymphocyte (12.0), Peripheral blood mononuclear cells (11.0), CD8 Tcells (6.5), and Lymph node (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KAT8 Gene



Protein tissue co-expression partners for KAT8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KAT8 Gene:

KAT8

SOURCE GeneReport for Unigene cluster for KAT8 Gene:

Hs.533803

Evidence on tissue expression from TISSUES for KAT8 Gene

  • Nervous system(4.5)
  • Heart(4.4)
  • Muscle(2.2)
  • Lung(2.1)
  • Intestine(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with KAT8: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KAT8 Gene

Orthologs for KAT8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KAT8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KAT8 33 34
  • 95.17 (n)
oppossum
(Monodelphis domestica)
Mammalia KAT8 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYST1 34
  • 94 (a)
OneToOne
KAT8 33
  • 92.07 (n)
cow
(Bos Taurus)
Mammalia KAT8 33 34
  • 92.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KAT8 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kat8 33 16 34
  • 88.79 (n)
rat
(Rattus norvegicus)
Mammalia Kat8 33
  • 88.69 (n)
lizard
(Anolis carolinensis)
Reptilia KAT8 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kat8 33
  • 80.27 (n)
Str.14579 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19273 33
zebrafish
(Danio rerio)
Actinopterygii kat8 33 34
  • 74.53 (n)
wufb22g02 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012229 33
  • 66.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta mof 33 34
  • 64.25 (n)
CG1894 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mys-2 33 34
  • 52.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESA1 34
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons HAM1 33
  • 57.66 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3525 33
rice
(Oryza sativa)
Liliopsida Os07g0626600 33
  • 57.18 (n)
Os.9844 33
barley
(Hordeum vulgare)
Liliopsida Hv.4361 33
wheat
(Triticum aestivum)
Liliopsida Ta.5414 33
corn
(Zea mays)
Liliopsida Zm.4004 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.901 33
Species where no ortholog for KAT8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for KAT8 Gene

ENSEMBL:
Gene Tree for KAT8 (if available)
TreeFam:
Gene Tree for KAT8 (if available)

Paralogs for KAT8 Gene

Paralogs for KAT8 Gene

(7) SIMAP similar genes for KAT8 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KAT8: view

Variants for KAT8 Gene

Sequence variations from dbSNP and Humsavar for KAT8 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000243212 -- 31,115,669(+) TACAG(A/G)TGCGG intron-variant, upstream-variant-2KB
rs1000377856 -- 31,121,455(+) CTGAC(A/G)TTTCA intron-variant
rs1000493949 -- 31,121,237(+) TGTCT(C/T)AGCCT intron-variant
rs1000654361 -- 31,116,640(+) GGCTG(-/GGCACGGT)GGCTC intron-variant, upstream-variant-2KB
rs1000709085 -- 31,122,653(+) GGTGG(A/G)TGGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KAT8 Gene

Variant ID Type Subtype PubMed ID
nsv457483 CNV loss 19166990
nsv571820 CNV loss 21841781
nsv833193 CNV gain+loss 17160897

Variation tolerance for KAT8 Gene

Residual Variation Intolerance Score: 19.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KAT8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KAT8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KAT8 Gene

Disorders for KAT8 Gene

Relevant External Links for KAT8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KAT8

No disorders were found for KAT8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KAT8 Gene

Publications for KAT8 Gene

  1. A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16. (PMID: 16227571) Smith ER … Lucchesi JC (Molecular and cellular biology 2005) 3 4 22 60
  2. MRG15, a novel chromodomain protein, is present in two distinct multiprotein complexes involved in transcriptional activation. (PMID: 12397079) Pardo PS … Pereira-Smith OM (The Journal of biological chemistry 2002) 3 4 22 60
  3. A new human member of the MYST family of histone acetyl transferases with high sequence similarity to Drosophila MOF. (PMID: 10786633) Neal KC … Lucchesi JC (Biochimica et biophysica acta 2000) 2 3 4 60
  4. MYST protein acetyltransferase activity requires active site lysine autoacetylation. (PMID: 22020126) Yuan H … Marmorstein R (The EMBO journal 2012) 3 4 60
  5. Regulation of the histone acetyltransferase activity of hMOF via autoacetylation of Lys274. (PMID: 21691301) Sun B … Ding J (Cell research 2011) 3 4 60

Products for KAT8 Gene

  • Addgene plasmids for KAT8

Sources for KAT8 Gene

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