KATNAL1
Katanin Catalytic Subunit A1 Like 1
Gene Information Card
| Symbol | KATNAL1 |
|---|---|
| Full Name | Katanin Catalytic Subunit A1 Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.13 |
| NCBI Gene ID | 84071 ncbi.nlm.nih.gov/gene/84071 |
| Ensembl ID | ENSG00000102837 |
| UniProt ID | Q9BW62 |
| OMIM ID | 614697 |
| HGNC ID | 25768 |
| Aliases | FLJ10842, MCPH18, p60-katanin-like 1 |
Description
KATNAL1 encodes a member of the katanin family of microtubule-severing ATPases. The protein localizes to centrosomes and cilia, where it regulates microtubule dynamics essential for ciliogenesis, cell cycle progression, and neuronal migration. Loss-of-function mutations cause autosomal recessive primary microcephaly type 18 (MCPH18).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 18 (MCPH18) | Loss-of-function mutations impair microtubule severing, reducing neural progenitor proliferation | OMIM #614697 |
| Joubert syndrome (related ciliopathy) | Defective cilia formation due to disrupted KATNAL1 function | ClinVar, literature |
| Short-rib thoracic dysplasia (possible) | Ciliary dysfunction in skeletal development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Brain (cortex) | 6.1 | Low |
| Kidney | 5.3 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.1 | Moderate |
| SH-SY5Y | 7.4 | Low |
| HepG2 | 6.0 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378*) | Nonsense | Rare | Loss of function; truncation |
| c.1490G>A (p.Arg497His) | Missense | Rare | Impaired ATPase activity |
| c.1963C>T (p.Arg655Trp) | Missense | Rare | Reduced microtubule severing |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature truncation, leading to loss of microtubule-severing activity and microcephaly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule severing ATPase activity | • ATP binding |
| • centrosome | • cilium |
| • microtubule cytoskeleton | • cell division |
Pathways
• Microtubule severing
• Cilium assembly
• Cell cycle
Protein Summary
KATNAL1 is a 60-kDa ATPase that severs microtubules, regulating their length and dynamics. It is essential for cilia formation, mitotic spindle organization, and neuronal migration. The protein contains an AAA+ ATPase domain and localizes to centrosomes and basal bodies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KATNAL1 Knockout HEK293 Cell Line | EDJ-KQ9958 | Human | 84056 | Details Get a Quote |
| KATNAL1 Knockout A-549 Cell Line | EDJ-KQ36875 | Human | 84056 | Details Get a Quote |
| KATNAL1 Knockout HCT 116 Cell Line | EDJ-KQ36876 | Human | 84056 | Details Get a Quote |
| KATNAL1 Knockout HeLa Cell Line | EDJ-KQ36877 | Human | 84056 | Details Get a Quote |
