KATNIP
Katanin Interacting Protein
Gene Information Card
| Symbol | KATNIP |
|---|---|
| Full Name | katanin interacting protein |
| Gene Type | protein coding |
| Chromosomal Location | 16p12.1 |
| NCBI Gene ID | 23247 ncbi.nlm.nih.gov/gene/23247 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q9H0R8 |
| OMIM ID | 616894 |
| HGNC ID | 29004 |
| Aliases | KIAA0556, bA255A11.2 |
Description
KATNIP encodes a protein that interacts with katanin, a microtubule-severing enzyme. It is involved in microtubule dynamics and ciliary function. Mutations in KATNIP are associated with Joubert syndrome and related ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Loss of KATNIP function disrupts ciliary microtubule organization, leading to cerebellar and retinal defects. | ClinVar, OMIM |
| Joubert syndrome 26 | Biallelic pathogenic variants in KATNIP cause this ciliopathy. | OMIM #616894 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Kidney | 6.1 | Medium |
| Lung | 4.3 | Low |
| Liver | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | RNA expression |
| HeLa | 7.8 | RNA expression |
| SH-SY5Y | 9.1 | Neuronal cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function |
| c.2345A>G (p.Asn782Ser) | Missense | Unknown | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated protein and loss of katanin interaction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • protein binding |
| • cytoplasm | • ciliary basal body |
| • microtubule cytoskeleton organization |
Pathways
• Microtubule severing
• Ciliary assembly
Protein Summary
KATNIP is a 1342-amino acid protein that localizes to the ciliary base and interacts with the p60 subunit of katanin. It regulates microtubule severing and ciliary length control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KATNIP Knockout HEK293 Cell Line | EDJ-KQ7924 | Human | 23247 | Details Get a Quote |
| KATNIP Knockout A-549 Cell Line | EDJ-KQ33559 | Human | 23247 | Details Get a Quote |
| KATNIP Knockout HCT 116 Cell Line | EDJ-KQ33560 | Human | 23247 | Details Get a Quote |
| KATNIP Knockout HeLa Cell Line | EDJ-KQ33561 | Human | 23247 | Details Get a Quote |
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