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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
  • Histone Acetyltransferase KAT8 3 4
  • 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
  • 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
  • GC16P031115

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. Diseases associated with KAT8 include Atrial Septal Defect 4. Among its related pathways are Chromatin Regulation / Acetylation and p53 pathway. Gene Ontology (GO) annotations related to this gene include enzyme binding and histone acetyltransferase activity. An important paralog of this gene is KAT6A.

UniProtKB/Swiss-Prot for KAT8 Gene

  • Histone acetyltransferase which may be involved in transcriptional activation (PubMed:12397079, PubMed:22020126). May influence the function of ATM (PubMed:15923642). As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac (PubMed:16227571, PubMed:16543150, PubMed:21217699, PubMed:22547026, PubMed:22020126). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852, PubMed:22547026). That activity is less specific than the one of the MSL complex (PubMed:20018852, PubMed:22547026). 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

GeneHancer (GH) Regulatory Elements for KAT8 Gene

Promoters and enhancers for KAT8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KAT8 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KAT8 Gene

Genomic Locations for KAT8 Gene
chr16:31,114,489-31,131,393
(GRCh38/hg38)
Size:
16,905 bases
Orientation:
Plus strand
chr16:31,127,075-31,142,714
(GRCh37/hg19)
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 (PubMed:16227571, PubMed:16543150). 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 (PubMed:16543150, PubMed:20018852, PubMed:22547026). 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 (PubMed:16543150, PubMed:20620954).
    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

Antibody Products

  • Boster Bio Antibodies for KAT8

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:
  • MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1 (MYST1_HUMAN)

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 Function:
Histone acetyltransferase which may be involved in transcriptional activation (PubMed:12397079, PubMed:22020126). May influence the function of ATM (PubMed:15923642). As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac (PubMed:16227571, PubMed:16543150, PubMed:21217699, PubMed:22547026, PubMed:22020126). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852, PubMed:22547026). That activity is less specific than the one of the MSL complex (PubMed:20018852, PubMed:22547026). Can also acetylate TP53/p53 at 'Lys-120'.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + L-lysyl-[protein] = CoA + H(+) + N(6)-acetyl-L-lysyl-[protein]; Xref=Rhea:RHEA:45948, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10731, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61930; EC=2.3.1.48; Evidence={ECO:0000269 PubMed:10786633, ECO:0000269 PubMed:21217699, ECO:0000269 PubMed:22020126, ECO:0000269 PubMed:22547026, ECO:0000305 PubMed:16543150};.

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 IBA,IDA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KAT8

Clone Products

  • Applied Biological Materials (abm): Clones for KAT8 - Now 50% OFF >
  • * KAT8 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * KAT8 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for KAT8

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 0

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:0000790 nuclear chromatin IBA 21873635
GO:0005634 nucleus IDA,IBA 11742995
GO:0005654 nucleoplasm TAS --
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 BioSystems pathway for KAT8 Gene
1 Cell Signaling Technology pathway for KAT8 Gene
1 GeneTex 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:0006325 chromatin organization IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0010506 regulation of autophagy IDA 23863932
GO:0016573 histone acetylation IDA 11742995
GO:0030099 myeloid cell differentiation 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
Coenzyme A Investigational Nutra 0
Donepezil HCl Pharma AChE inhibitor 0
MG 149 Pharma HAT inhibitor 0
Remodelin Pharma 0
MG149 Pharma 0

(1) Additional Compounds for KAT8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
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

mRNA/cDNA for KAT8 Gene

Unigene Clusters for KAT8 Gene

K(lysine) acetyltransferase 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KAT8

Clone Products

  • Applied Biological Materials (abm): Clones for KAT8 - Now 50% OFF >
  • * KAT8 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * KAT8 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for KAT8

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, 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(2.3)
  • Lung(2.1)
  • Intestine(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with KAT8: view

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 35 34
  • 95.17 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KAT8 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYST1 35
  • 94 (a)
OneToOne
KAT8 34
  • 92.07 (n)
cow
(Bos Taurus)
Mammalia KAT8 35 34
  • 92.72 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KAT8 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kat8 17 35 34
  • 88.79 (n)
rat
(Rattus norvegicus)
Mammalia Kat8 34
  • 88.69 (n)
lizard
(Anolis carolinensis)
Reptilia KAT8 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kat8 34
  • 80.27 (n)
Str.14579 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19273 34
zebrafish
(Danio rerio)
Actinopterygii kat8 35 34
  • 74.53 (n)
OneToOne
wufb22g02 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012229 34
  • 66.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta mof 35 34
  • 64.25 (n)
OneToMany
CG1894 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mys-2 35 34
  • 52.62 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESA1 35
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons HAM1 34
  • 57.66 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3525 34
rice
(Oryza sativa)
Liliopsida Os07g0626600 34
  • 57.18 (n)
Os.9844 34
barley
(Hordeum vulgare)
Liliopsida Hv.4361 34
corn
(Zea mays)
Liliopsida Zm.4004 34
wheat
(Triticum aestivum)
Liliopsida Ta.5414 34
sea squirt
(Ciona savignyi)
Ascidiacea Cin.901 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.901 34
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)
Aminode:
Evolutionary constrained regions (ECRs) for KAT8: view image

Paralogs for KAT8 Gene

Paralogs for KAT8 Gene

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

  • KAT8_HUMAN
  • H3BMX5_HUMAN
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 Variation AA Info Type
rs1000243212 -- 31,115,669(+) G/A upstream_transcript_variant
rs1000377856 -- 31,121,455(+) A/G intron_variant
rs1000493949 -- 31,121,237(+) C/T intron_variant
rs1000654361 -- 31,116,640(+) GGCACGGTGGC/GGC upstream_transcript_variant
rs1000709085 -- 31,122,653(+) G/A 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)

Additional Variant Information for KAT8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for KAT8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KAT8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrial septal defect 4
  • asd4
- elite association - COSMIC cancer census association via MalaCards
Search KAT8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KAT8

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

No data available for 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 23 58
  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 23 58
  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 58
  4. MYST protein acetyltransferase activity requires active site lysine autoacetylation. (PMID: 22020126) Yuan H … Marmorstein R (The EMBO journal 2012) 3 4 58
  5. Regulation of the histone acetyltransferase activity of hMOF via autoacetylation of Lys274. (PMID: 21691301) Sun B … Ding J (Cell research 2011) 3 4 58

Products for KAT8 Gene

Sources for KAT8 Gene

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