KATNA1 (Katanin Catalytic Subunit A1): Microtubule-Severing ATPase and Its Role in Neurodevelopment and Cancer
A comprehensive biomedical overview of KATNA1, including gene structure, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | KATNA1 |
|---|---|
| Full Name | Katanin Catalytic Subunit A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.1 |
| NCBI Gene ID | 11104 ncbi.nlm.nih.gov/gene/11104 |
| Ensembl ID | ENSG00000112715 |
| UniProt ID | O75449 |
| OMIM ID | 606696 |
| HGNC ID | 6216 |
| Aliases | katanin p60 subunit A1, KAT, p60 katanin |
Description
KATNA1 encodes the catalytic subunit of katanin, a microtubule-severing AAA ATPase. It regulates microtubule dynamics by severing microtubules, essential for cell division, neuronal development, and intracellular transport. Mutations and altered expression are linked to neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, cortical atrophy, and intellectual disability | Loss-of-function mutations impair microtubule severing, affecting neuronal migration and brain development. | ClinVar, OMIM |
| Breast cancer | Overexpression of KATNA1 promotes cell proliferation and invasion via enhanced microtubule dynamics. | COSMIC, literature |
| Glioblastoma | Upregulation of KATNA1 correlates with tumor aggressiveness and poor prognosis. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | High |
| Testis | 8.5 | Medium |
| Lung | 5.2 | Medium |
| Liver | 3.1 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| A549 | 9.8 | Moderate expression |
| MCF7 | 12.5 | High expression |
| U87MG | 14.3 | High expression |
| HepG2 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1186C>T (p.Arg396Ter) | Nonsense | Rare | Loss of function, truncation |
| c.1544A>G (p.Tyr515Cys) | Missense | Rare | Potential loss of function |
| c.2002G>A (p.Asp668Asn) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or reduced ATPase activity.
Gain of Function (GOF)
Amplification or overexpression in cancers may enhance microtubule severing, promoting proliferation.
Dominant Negative (DN)
Missense mutations in the AAA domain may interfere with hexamer formation, acting dominant-negative.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • microtubule binding | • microtubule severing |
| • protein homodimerization activity | • cytoplasm |
| • microtubule cytoskeleton | • centrosome |
| • spindle |
Pathways
• Microtubule dynamics
• Cell cycle
• Neurogenesis
Protein Summary
KATNA1 is a 60 kDa subunit of katanin, a heterodimeric enzyme that severs microtubules in an ATP-dependent manner. It localizes to centrosomes and spindles, regulating mitotic spindle length and neuronal microtubule organization. The protein contains an AAA ATPase domain and a microtubule-interacting domain. Post-translational modifications and interactions with regulatory subunits modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KATNA1 Knockout HEK293 Cell Line | EDJ-KQ7286 | Human | 11104 | Details Get a Quote |
| KATNA1 Knockout A-549 Cell Line | EDJ-KQ32319 | Human | 11104 | Details Get a Quote |
| KATNA1 Knockout HCT 116 Cell Line | EDJ-KQ32320 | Human | 11104 | Details Get a Quote |
| KATNA1 Knockout HeLa Cell Line | EDJ-KQ32321 | Human | 11104 | Details Get a Quote |
