KATNB1
Katanin Regulatory Subunit B1
Gene Information Card
| Symbol | KATNB1 |
|---|---|
| Full Name | Katanin Regulatory Subunit B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q21 |
| NCBI Gene ID | 10300 ncbi.nlm.nih.gov/gene/10300 |
| Ensembl ID | ENSG00000140854 |
| UniProt ID | Q9BVA0 |
| OMIM ID | 602703 |
| HGNC ID | 6217 |
| Aliases | KAT, p80, katanin p80 subunit B1 |
Description
KATNB1 encodes the regulatory subunit B1 of katanin, a microtubule-severing AAA ATPase. Katanin is essential for severing microtubules at the centrosome, regulating spindle length, cell division, and neuronal migration. Mutations in KATNB1 cause autosomal recessive primary microcephaly and cortical malformations, including lissencephaly and septo-optic dysplasia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive primary microcephaly (MCPH) | Loss-of-function mutations impair microtubule severing, leading to reduced neuronal progenitor proliferation and small brain size. | OMIM #603214 |
| Lissencephaly with microcephaly | Disrupted cortical neuronal migration due to defective microtubule dynamics. | ClinVar, PMID: 24768507 |
| Septo-optic dysplasia | Abnormal development of forebrain and optic nerves; KATNB1 variants impair midline patterning. | OMIM #182230, PMID: 24768507 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Low |
| Ovary | 6.2 | Low |
| Lung | 4.1 | Low |
| Liver | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HeLa (cervical carcinoma) | 9.8 | Epithelial |
| HEK293 (embryonic kidney) | 7.4 | Common cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1285C>T (p.Arg429*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1070G>A (p.Arg357Gln) | Missense | Rare | Impaired katanin complex assembly |
| c.1990C>T (p.Arg664Trp) | Missense | Rare | Reduced microtubule severing activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein or nonsense-mediated decay, reducing katanin activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations may disrupt heterodimer formation with KATNA1, impairing severing.
View complete mutation data：
Gene Ontology (GO)
| • microtubule severing | • centrosome |
| • spindle organization | • cell division |
| • neuronal migration |
Pathways
• Microtubule dynamics
• Cell cycle
• mitosis
Protein Summary
KATNB1 encodes the p80 regulatory subunit of katanin, a heterodimeric microtubule-severing enzyme. The p80 subunit targets katanin to the centrosome and spindle poles, regulating microtubule release and length. It is critical for mitotic spindle assembly and neuronal migration. Mutations cause microcephaly and cortical malformations.
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