KAT14: Lysine Acetyltransferase 14 - Gene and Protein Overview
Comprehensive biomedical resource for KAT14, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | KAT14 |
|---|---|
| Full Name | lysine acetyltransferase 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 83660 ncbi.nlm.nih.gov/gene/83660 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9H8H0 |
| OMIM ID | 617058 |
| HGNC ID | 28928 |
| Aliases | MST038, MSTP038, dJ1029A22.3, C20orf32 |
Description
KAT14 (lysine acetyltransferase 14) encodes a protein that functions as a catalytic subunit of the ATAC (Ada Two A-containing) histone acetyltransferase complex. It acetylates lysine residues on histone H3 and H4, playing a role in chromatin remodeling, transcriptional regulation, and cell cycle progression. The gene is located on chromosome 20p11.23 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression or mutation may disrupt histone acetylation, affecting gene expression and cell proliferation. | COSMIC database reports somatic mutations in various cancers. |
| Neurodevelopmental disorders | Potential role via chromatin regulation; limited direct evidence. | ClinVar lists variants of uncertain significance. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 11.8 | Cervical cancer cells |
| K562 | 9.5 | Leukemia cells |
| A549 | 7.3 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T | Missense | 0.02% | p.Thr34Ile; unknown functional impact |
| c.205G>A | Missense | 0.01% | p.Glu69Lys; predicted benign |
| c.412_413insA | Frameshift | <0.01% | Loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of acetyltransferase activity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • histone acetyltransferase activity (GO:0004402) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • transcription (GO:0006351) |
| • histone acetylation (GO:0016573) | • histone H3 acetylation (GO:0043966) |
| • histone H4 acetylation (GO:0043967) |
Pathways
• Chromatin modifying enzymes (Reactome: R-HSA-3214847)
• ATAC complex (Reactome: R-HSA-3214858)
• Histone acetylation (KEGG: hsa05203)
Protein Summary
KAT14 is a 227-amino acid protein (UniProt Q9H8H0) that belongs to the Gcn5-related N-acetyltransferase (GNAT) family. It is a component of the ATAC complex and catalyzes acetylation of histone H3 and H4, thereby regulating chromatin structure and gene expression. The protein is localized to the nucleus and is expressed in various tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KAT14 Knockout HEK293 Cell Line | EDJ-KQ11940 | Human | 57325 | Details Get a Quote |
| KAT14 Knockout A-549 Cell Line | EDJ-KQ40451 | Human | 57325 | Details Get a Quote |
| KAT14 Knockout HCT 116 Cell Line | EDJ-KQ40452 | Human | 57325 | Details Get a Quote |
| KAT14 Knockout HeLa Cell Line | EDJ-KQ40453 | Human | 57325 | Details Get a Quote |
