HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KAT5
lysine acetyltransferase 5
Chromosome 11 · 11q13.1
NCBI Gene: 10524Ensembl: ENSG00000172977.14HGNC: HGNC:5275UniProt: Q92993
386PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous RecombinationHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
double-strand break repair via homologous recombinationchromatin bindingtranscription coactivator activityhistone acetyltransferase activityneurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesneurodegenerative diseasecancermicrocephaly
✦AI Summary

KAT5 (lysine acetyltransferase 5), also known as TIP60, is a multi-functional histone and non-histone acetyltransferase that regulates genome stability and metabolic processes. As the catalytic component of the NuA4/TIP60 coactivator complex, KAT5 acetylates histones H2A, H4, and their variants to regulate chr11 accessibility and gene expression 1. KAT5 plays critical roles in DNA damage response by acetylating non-histone substrates; it acetylates NBS1 at K388 to promote homologous recombination-mediated DNA repair, though this lactylation activity occurs through TIP60 2. KAT5 also acetylates p62 at K420 and K435 under nutrient stress to enhance ubiquitin binding and promote autophagic clearance of damaged proteins 3. Beyond DNA repair, KAT5 acetylates CHKα2 at K247 to promote lipid droplet lipolysis during glucose deprivation, supporting cancer cell metabolism 4. In glioblastoma, KAT5-mediated acetylation of HMGCS1 at K273 enhances cholesterol synthesis and tumor growth 5. Clinically, KAT5 mutations cause neurodevelopmental disorder with dysmorphic facies and brain abnormalities. KAT5 activity influences chemotherapy resistance and glioblastoma prognosis, suggesting therapeutic potential through metabolic or acetyltransferase inhibition.

Sources cited
1
KAT5/TIP60 is a multi-functional enzyme with histone acetylation activities; acetylates histones H2A, H4, and variants; plays roles in transcription, DNA repair, cell cycle control
PMID: 39154037
2
TIP60 functions as NBS1 lysine lactyltransferase; lactylation of NBS1 K388 promotes homologous recombination-mediated DNA repair and MRN complex formation
PMID: 38961290
3
TIP60 acetylates p62/SQSTM1 at K420 and K435 in response to nutrient stress; acetylation enhances ubiquitin binding and promotes p62 bodies formation and autophagic clearance
PMID: 31857589
4
KAT5 acetylates CHKα2 at K247 during glucose deprivation to promote lipid droplet lipolysis and support brain tumor growth
PMID: 34077757
5
KAT5 acetylates HMGCS1 at K273 in glioblastoma stem cells to enhance cholesterol synthesis and promote tumor growth
PMID: 38172338
6
KAT5/TIP60 is part of NuA4/TIP60 complex that incorporates H2A.Z histone variant and acetylates H4, H2A, H2A.Z to regulate gene expression and maintain genome stability
PMID: 39088653
7
TIP60 plays central role in ATM and p53 activation involved in DNA repair; has roles in cancer progression
PMID: 29549519
Disease Associationsⓘ21
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesOpen Targets
0.70Moderate
neurodegenerative diseaseOpen Targets
0.57Moderate
cancerOpen Targets
0.54Moderate
microcephalyOpen Targets
0.49Moderate
orofacial cleftOpen Targets
0.48Moderate
Intellectual disabilityOpen Targets
0.48Moderate
Abnormality of the faceOpen Targets
0.48Moderate
Atypical behaviorOpen Targets
0.48Moderate
Morphological central nervous system abnormalityOpen Targets
0.48Moderate
SeizureOpen Targets
0.48Moderate
Severe global developmental delayOpen Targets
0.48Moderate
Short statureOpen Targets
0.48Moderate
Sleep DisorderOpen Targets
0.48Moderate
Sleep disturbanceOpen Targets
0.48Moderate
Alzheimer diseaseOpen Targets
0.40Weak
Parkinson diseaseOpen Targets
0.39Weak
multiple sclerosisOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
Aicardi-Goutieres syndrome 3Open Targets
0.19Weak
neuroinflammatory disorderOpen Targets
0.15Weak
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesUniProt
Pathogenic Variants4
NM_182710.3(KAT5):c.256C>T (p.Arg86Cys)Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
★☆☆☆2025→ Residue 86
NM_182710.3(KAT5):c.257G>A (p.Arg86His)Pathogenic
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
☆☆☆☆2020→ Residue 86
NM_182710.3(KAT5):c.1204T>A (p.Cys402Ser)Pathogenic
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
☆☆☆☆2020→ Residue 402
NM_182710.3(KAT5):c.1336T>G (p.Ser446Ala)Pathogenic
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
☆☆☆☆2020→ Residue 446
View on ClinVar ↗
Related Genes
KANSL2Protein interaction100%KANSL3Protein interaction100%FOXR2Protein interaction100%JAZF1Protein interaction100%FOXR1Protein interaction100%PLAC1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
92%
Bone Marrow
80%
Lung
80%
Heart
65%
Liver
49%
Gene Interaction Network
Click a node to explore
KAT5KANSL2KANSL3FOXR2JAZF1FOXR1PLAC1
PROTEIN STRUCTURE
Preparing viewer…
PDB2OU2 · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.44 [0.33–0.59]
RankingsWhere KAT5 stands among ~20K protein-coding genes
  • #772of 20,598
    Most Researched386 · top 5%
  • #3,676of 5,498
    Most Pathogenic Variants4
  • #4,040of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedKAT5
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
NBS1 lactylation is required for efficient DNA repair and chemotherapy resistance.
PMID: 38961290
Nature · 2024
1.00
2
Oncometabolites suppress DNA repair by disrupting local chromatin signalling.
PMID: 32494005
Nature · 2020
0.90
3
Choline kinase alpha 2 acts as a protein kinase to promote lipolysis of lipid droplets.
PMID: 34077757
Mol Cell · 2021
0.80
4
Lymphatic endothelial-like cells promote glioblastoma stem cell growth through cytokine-driven cholesterol metabolism.
PMID: 38172338
Nat Cancer · 2024
0.70
5
KAT5 regulates neurodevelopmental states associated with G0-like populations in glioblastoma.
PMID: 40346033
Nat Commun · 2025
0.64