KAT7 (Lysine Acetyltransferase 7): Gene, Function, and Disease Relevance
A comprehensive overview of KAT7, a histone acetyltransferase involved in chromatin regulation, development, and cancer.
Gene Information Card
| Symbol | KAT7 |
|---|---|
| Full Name | Lysine acetyltransferase 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 11143 ncbi.nlm.nih.gov/gene/11143 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | O95251 |
| OMIM ID | 609486 |
| HGNC ID | 24948 |
| Aliases | HBO1, MYST2, ZC2HC7 |
Description
KAT7 (lysine acetyltransferase 7), also known as HBO1 (histone acetyltransferase binding to ORC1), is a protein-coding gene located on chromosome 17q21.32. It encodes a histone acetyltransferase that specifically acetylates histone H3 at lysine 14 (H3K14) and histone H4 at lysines 5, 8, 12, and 16, thereby regulating chromatin structure and gene expression. KAT7 is a component of various multisubunit complexes, including the HBO1 complex, which plays roles in DNA replication, transcription, and DNA damage repair. It is essential for normal development and is implicated in several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | KAT7 acts as a tumor suppressor or oncogene depending on context; mutations and altered expression affect chromatin remodeling and gene expression, promoting tumorigenesis. | COSMIC and ClinVar |
| Intellectual disability (candidate) | Missense variants in KAT7 have been reported in patients with intellectual disability, suggesting a role in neurodevelopment. | ClinVar |
| Developmental delay (candidate) | De novo mutations in KAT7 are associated with developmental delay and facial dysmorphism. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.4 | Medium |
| Bone marrow | 10.1 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.5 | Low |
| Brain | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HeLa (cervical cancer) | 12.0 | Moderate |
| A549 (lung cancer) | 10.5 | Moderate |
| MCF7 (breast cancer) | 9.0 | Low |
| HepG2 (liver cancer) | 8.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | Rare (0.01%) | Loss of acetyltransferase activity; associated with intellectual disability |
| c.1456A>G (p.Thr486Ala) | Missense | Rare (0.005%) | Altered substrate specificity; potential oncogenic effect |
| c.789_790del (p.Glu264fs) | Frameshift | Very rare | Loss of function; may contribute to tumor suppression loss |
| c.2014C>T (p.Arg672Ter) | Nonsense | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in KAT7, such as frameshift or nonsense variants, reduce histone acetyltransferase activity, leading to altered chromatin structure and gene expression. This can impair DNA replication and repair, contributing to genomic instability and cancer development.
Gain of Function (GOF)
Gain-of-function mutations are less common but may increase KAT7 activity, leading to hyperacetylation of histones and aberrant activation of oncogenic pathways. Some missense variants may enhance substrate binding or catalytic efficiency.
Dominant Negative (DN)
Dominant-negative mutations, often missense in the catalytic domain, can produce a defective KAT7 protein that interferes with the function of the wild-type allele, disrupting normal chromatin regulation and promoting disease phenotypes.
View complete mutation data：
Gene Ontology (GO)
| • histone acetyltransferase activity | • chromatin binding |
| • DNA replication origin binding | • protein homodimerization activity |
| • nucleus | • chromatin remodeling |
| • histone H3 acetylation | • histone H4 acetylation |
| • regulation of transcription | • DNA-templated |
| • DNA damage response |
Pathways
• Chromatin organization
• Histone modification
• DNA replication
• Transcriptional regulation
• p53 signaling pathway (via acetylation of p53)
Protein Summary
The KAT7 protein, also known as HBO1, is a 611-amino acid histone acetyltransferase that belongs to the MYST family. It contains a conserved MYST catalytic domain and a zinc finger motif. KAT7 forms complexes with scaffold proteins such as ING4/5, JADE1/2/3, and EAF6, which target it to specific genomic loci. It acetylates histone H3 at lysine 14 and histone H4 at lysines 5, 8, 12, and 16, thereby promoting open chromatin structure and facilitating DNA replication and transcription. KAT7 also acetylates non-histone proteins like p53, modulating their activity. It is essential for embryonic development and is involved in cell cycle progression, DNA repair, and stem cell maintenance. Dysregulation of KAT7 is linked to various cancers and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KAT7 Knockout HEK293 Cell Line | EDJ-KQ13885 | Human | 11143 | Details Get a Quote |
| KAT7 Knockout A-549 Cell Line | EDJ-KQ43744 | Human | 11143 | Details Get a Quote |
| KAT7 Knockout HCT 116 Cell Line | EDJ-KQ43745 | Human | 11143 | Details Get a Quote |
| KAT7 Knockout HeLa Cell Line | EDJ-KQ43746 | Human | 11143 | Details Get a Quote |
| KAT7 Knockout Hep-G2 Cell Line | EDJ-KZ303 | Human | 11143 | Details Get a Quote |
| KAT7 Knockout ZR-75-1 Cell Line | EDJ-KZ304 | Human | 11143 | Details Get a Quote |
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