KAT5
Histone acetyltransferase KAT5
Also known as: cPLA2, ESA1, HTATIP, HTATIP1, KAT5_HUMAN, PLIP, TIP60, ZC2HC5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92993
- Gene
- KAT5
- Ensembl
- ENSG00000172977
- Chromosome
- 11
- Canonical length
- 513 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Vesicles,Cytosol
OverviewNCBI Gene
The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
513 residues, UniProt reviewed canonical sequence.
>Q92993|KAT5
1 MAEVGEIIEG CRLPVLRRNQ DNEDEWPLAE ILSVKDISGR KLFYVHYIDF NKRLDEWVTH
61 ERLDLKKIQF PKKEAKTPTK NGLPGSRPGS PEREVPASAQ ASGKTLPIPV QITLRFNLPK
121 EREAIPGGEP DQPLSSSSCL QPNHRSTKRK VEVVSPATPV PSETAPASVF PQNGAARRAV
181 AAQPGRKRKS NCLGTDEDSQ DSSDGIPSAP RMTGSLVSDR SHDDIVTRMK NIECIELGRH
241 RLKPWYFSPY PQELTTLPVL YLCEFCLKYG RSLKCLQRHL TKCDLRHPPG NEIYRKGTIS
301 FFEIDGRKNK SYSQNLCLLA KCFLDHKTLY YDTDPFLFYV MTEYDCKGFH IVGYFSKEKE
361 STEDYNVACI LTLPPYQRRG YGKLLIEFSY ELSKVEGKTG TPEKPLSDLG LLSYRSYWSQ
421 TILEILMGLK SESGERPQIT INEISEITSI KKEDVISTLQ YLNLINYYKG QYILTLSEDI
481 VDGHERAMLK RLLRIDSKCL HFTPKDWSKR GKWLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KAT5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 50 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 50 nTPM
- blood vessel: 46 nTPM
- skin: 44 nTPM
- endometrium: 44 nTPM
- testis: 44 nTPM
- parathyroid gland: 43 nTPM
Single-cell type
- syncytiotrophoblasts: 153 nCPM
- late primary spermatocytes: 99 nCPM
- esophageal apical cells: 80 nCPM
- cytotrophoblasts: 67 nCPM
- extravillous trophoblasts: 66 nCPM
- migrating cytotrophoblasts: 65 nCPM
Immune cell
- eosinophil: 59 nTPM
- basophil: 43 nTPM
- naive CD4 T-cell: 37 nTPM
- total PBMC: 36 nTPM
- NK-cell: 36 nTPM
- neutrophil: 35 nTPM
Brain region
- white matter: 41 nTPM
- cerebellum: 38 nTPM
- pons: 37 nTPM
- basal ganglia: 36 nTPM
- medulla oblongata: 35 nTPM
- spinal cord: 35 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KAT5.
Disease | AllUniProt
Conditions KAT5 is implicated in, by any mechanism.
- Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) MIM:619103
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 116 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.47
- gnomAD pLI
- 0.09
- gnomAD missense Z
- 3.61
- DepMap mean gene effect
- -0.64
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- cellular response to estradiol stimulus
- cellular response to glucose starvation
- cellular response to glucose stimulus
- cellular senescence
- DNA damage response
- DNA damage response, signal transduction by p53 class mediator
- DNA repair-dependent chromatin remodeling
- double-strand break repair
- double-strand break repair via homologous recombination
- establishment of mitotic spindle orientation
- innate immune response
- lipid droplet disassembly
- negative regulation of DNA-templated transcription
- negative regulation of double-strand break repair via homologous recombination
- negative regulation of interleukin-2 production
- negative regulation of transcription by RNA polymerase II
- neural tube development
- neurogenesis
- nucleotide-excision repair
- peptidyl-lysine acetylation
- positive regulation of aggrephagy
- positive regulation of attachment of mitotic spindle microtubules to kinetochore
- positive regulation of autophagy
- positive regulation of circadian rhythm
- positive regulation of DNA-templated transcription
- positive regulation of double-strand break repair via homologous recombination
- positive regulation of innate immune response
- positive regulation of mitotic sister chromatid segregation
- positive regulation of myoblast differentiation
- positive regulation of protein acetylation
- positive regulation of regulatory T cell differentiation
- positive regulation of transcription by RNA polymerase II
- positive regulation of triglyceride biosynthetic process
- proteasome-mediated ubiquitin-dependent protein catabolic process
- regulation of apoptotic process
- regulation of cell cycle
- regulation of double-strand break repair
- regulation of hematopoietic stem cell differentiation
- response to ionizing radiation
- sperm DNA condensation
- spermatid development
Molecular functions
- acetyltransferase activity
- chromatin binding
- DNA-binding transcription factor binding
- histone acetyltransferase activity
- histone H2A acetyltransferase activity
- histone H4 acetyltransferase activity
- histone H4K16 acetyltransferase activity
- peptide 2-hydroxyisobutyryltransferase activity
- peptide butyryltransferase activity
- peptide lactyltransferase (CoA-dependent) activity
- protein-lysine-acetyltransferase activity
- transcription coactivator activity
- zinc ion binding
- histone H2AK5 acetyltransferase activity
- peptide crotonyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Chromo/chromo shadow domain
- Histone acetyltransferase domain, MYST-type
- Acyl-CoA N-acyltransferase
- Chromo-like domain superfamily
- RNA binding activity-knot of a chromodomain
- Winged helix-like DNA-binding domain superfamily
- MYST, zinc finger domain
- MYST family histone acetyltransferases
- MOZ/SAS family
- RNA binding activity-knot of a chromodomain
- MYST family zinc finger domain
KeywordsUniProt
- Acetylation
- Activator
- Acyltransferase
- Centromere
- Chromatin regulator
- Chromosome
- Cytoplasm
- Cytoskeleton
- DNA damage
- DNA repair
- Growth regulation
- Host-virus interaction
- Immunity
- Innate immunity
- Intellectual disability
- Isopeptide bond
- Kinetochore
- Metal-binding
- Nucleus
- Phosphoprotein
- Transcription
- Transcription regulation
- Transferase
- Ubl conjugation
- Zinc
- Zinc-finger
InteractionsUniProt · HPA
Protein binding partners of KAT5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KAT5 as an antibody target. Whether an autoantibody or antibody against KAT5 could matter depends on whether native KAT5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KAT5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KAT5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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