ATAT1: Alpha-Tubulin N-Acetyltransferase 1
Key regulator of microtubule acetylation and cellular stability
Gene Information Card
| Symbol | ATAT1 |
|---|---|
| Full Name | Alpha-tubulin N-acetyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 79969 ncbi.nlm.nih.gov/gene/79969 |
| Ensembl ID | ENSG00000111834 |
| UniProt ID | Q5SQI0 |
| OMIM ID | 615302 |
| HGNC ID | 25936 |
| Aliases | MEC-17, C6orf134, MEC17, Nbla00487 |
Description
ATAT1 (alpha-tubulin N-acetyltransferase 1) encodes an enzyme that specifically acetylates the epsilon-amino group of lysine-40 on alpha-tubulin, a key post-translational modification of microtubules. This acetylation stabilizes microtubules and is critical for ciliary function, neuronal development, and cellular motility. ATAT1 is highly conserved from nematodes to humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss of ATAT1 function disrupts ciliary microtubule acetylation, impairing ciliary motility and mucociliary clearance. | ClinVar, OMIM |
| Neurodevelopmental disorders | Reduced ATAT1 activity alters neuronal microtubule dynamics, linked to intellectual disability and motor deficits. | OMIM, NCBI |
| Cancer (colorectal, breast) | ATAT1 overexpression promotes microtubule stability, enhancing cell migration and invasion. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.3 | Medium |
| Lung | 8.1 | Low |
| Kidney | 7.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| SH-SY5Y | 11.8 | Neuronal model |
| A549 | 9.5 | Lung carcinoma |
| MCF7 | 7.1 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.371G>A (p.Arg124His) | Missense | <0.01% | Reduced enzymatic activity; associated with ciliary dysfunction |
| c.538C>T (p.Arg180Trp) | Missense | <0.01% | Loss of acetylation function; linked to neurodevelopmental delay |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Complete loss of protein; pathogenic in primary ciliary dyskinesia |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish tubulin acetylation, impairing microtubule stability and ciliary function.
Gain of Function (GOF)
Not reported; no activating mutations documented.
Dominant Negative (DN)
Not reported; ATAT1 acts as a monomer and no dominant-negative variants are known.
View complete mutation data：
Gene Ontology (GO)
| • acetyltransferase activity | • tubulin N-acetyltransferase activity |
| • microtubule | • cytoplasm |
| • ciliary basal body | • acetylation |
| • microtubule cytoskeleton organization | • cell projection organization |
Pathways
• Microtubule acetylation
• Ciliary assembly and function
• Tubulin modification
Protein Summary
ATAT1 is a 244-amino acid protein that catalyzes the acetylation of alpha-tubulin at lysine-40. It localizes to the cytoplasm and ciliary basal body, regulating microtubule stability, cell motility, and ciliary beating. The enzyme is essential for neuronal development and respiratory cilia function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATAT1 Knockout HEK293 Cell Line | EDJ-KQ12055 | Human | 79969 | Details Get a Quote |
| ATAT1 Knockout A-549 Cell Line | EDJ-KQ40697 | Human | 79969 | Details Get a Quote |
| ATAT1 Knockout HCT 116 Cell Line | EDJ-KQ40698 | Human | 79969 | Details Get a Quote |
| ATAT1 Knockout HeLa Cell Line | EDJ-KQ40699 | Human | 79969 | Details Get a Quote |
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