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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KATNAL1
katanin catalytic subunit A1 like 1
Chromosome 13 · 13q12.3
NCBI Gene: 84056Ensembl: ENSG00000102781.15HGNC: HGNC:28361UniProt: B3KUK7
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmicrotubule severing ATPase activityidentical protein bindingmicrotubule severingAbnormality of refractionandrogenetic alopeciaconduction system disordercirrhosis of liver
✦AI Summary

KATNAL1 encodes a microtubule-severing enzyme that regulates cellular microtubule dynamics through ATP-dependent cleavage. In neurons, KATNAL1 is the dominant katanin isoform, showing higher severing activity and greater cellular stability than its paralog KATNA1, with selective expression in brain and testis tissues 1. KATNAL1 plays critical roles in neuronal process elongation and development; loss-of-function mutations in mice cause behavioral deficits including circadian rhythm and learning/memory impairment, along with neuronal migration abnormalities and defective motile cilia in ependymal cells 2. In humans, heterozygous microdeletions encompassing KATNAL1 are associated with intellectual disability, microcephaly, and atopic dermatitis, suggesting the gene contributes to CNS development 3. However, direct KATNAL1 mutations show no significant association with azoospermia in humans despite murine studies indicating male fertility involvement 4. Beyond protein-coding functions, the circular RNA derived from KATNAL1 (circ_KATNAL1) functions in immune regulation and cancer pathways, modulating inflammation through miR-153-3p/TLR4 signaling in epithelial cells 5 and suppressing prostate cancer growth via miR-145-3p/WISP1 regulation 6. These findings establish KATNAL1 as essential for neuronal development and suggest pleiotropic roles in reproductive and inflammatory processes.

Sources cited
1
KATNAL1 is the dominant katanin isoform in neurons with higher microtubule-severing activity and greater cellular stability than KATNA1
PMID: 30448058
2
KATNAL1 loss-of-function causes behavioral deficits, neuronal migration abnormalities, and defects in motile cilia
PMID: 28373692
3
Heterozygous 13q12.3 microdeletions encompassing KATNAL1 cause intellectual disability, microcephaly, and atopic dermatitis
PMID: 24664804
4
No significant association between KATNAL1 gene sequence variants and azoospermia in humans
PMID: 24913027
5
Circular KATNAL1 regulates inflammation and apoptosis through miR-153-3p/TLR4 axis in middle ear epithelial cells
PMID: 37715400
6
Circular KATNAL1 suppresses prostate cancer cell growth and invasiveness via miR-145-3p/WISP1 pathway
PMID: 31800303
Disease Associationsⓘ20
Abnormality of refractionOpen Targets
0.32Weak
androgenetic alopeciaOpen Targets
0.32Weak
conduction system disorderOpen Targets
0.31Weak
cirrhosis of liverOpen Targets
0.29Weak
conjunctival disorderOpen Targets
0.27Weak
cholelithiasisOpen Targets
0.26Weak
skin sensitivity to sunOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Suggestive
myeloid leukemiaOpen Targets
0.09Suggestive
hemolytic anemiaOpen Targets
0.09Suggestive
bone fractureOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.07Suggestive
peritonitisOpen Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KATNBL1Protein interaction69%KATNB1Protein interaction68%KATNA1Shared pathway67%KATNAL2Shared pathway50%CLIP2Shared pathway33%CLIP4Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Brain
56%
Bone Marrow
39%
Ovary
23%
Liver
21%
Lung
20%
Gene Interaction Network
Click a node to explore
KATNAL1KATNBL1KATNB1KATNA1KATNAL2CLIP2CLIP4
PROTEIN STRUCTURE
Preparing viewer…
PDB6B5C · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.48–0.89]
RankingsWhere KATNAL1 stands among ~20K protein-coding genes
  • #10,991of 20,598
    Most Researched35
  • #7,902of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedKATNAL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lack of association of KATNAL1 gene sequence variants and azoospermia in humans.
PMID: 24913027
J Assist Reprod Genet · 2014
1.00
2
Circ_KATNAL1 promotes the inflammation and apoptosis in human middle ear epithelial cells induced by lipopolysaccharide by regulating the miR-153-3p / TLR4 axis.
PMID: 37715400
Cell Mol Biol (Noisy-le-grand) · 2023
0.90
3
KATNAL1 is a more active and stable isoform of katanin, and is expressed dominantly in neurons.
PMID: 30448058
Biochem Biophys Res Commun · 2018
0.80
4
A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.
PMID: 28373692
Mol Psychiatry · 2018
0.70
5
Gender-specific effects of polystyrene nanoplastic exposure on triclosan-induced reproductive toxicity in zebrafish (Danio rerio).
PMID: 38692326
Sci Total Environ · 2024
0.60