KIF17
Kinesin Family Member 17
Gene Information Card
| Symbol | KIF17 |
|---|---|
| Full Name | Kinesin Family Member 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 57576 ncbi.nlm.nih.gov/gene/57576 |
| Ensembl ID | ENSG00000117222 |
| UniProt ID | Q9P2E2 |
| OMIM ID | 605037 |
| HGNC ID | 19372 |
| Aliases | KIAA1405, KIF3B, KLP-17 |
Description
KIF17 encodes a member of the kinesin superfamily of microtubule-associated motor proteins. This protein functions as a homodimeric motor that transports cargo along microtubules, specifically in cilia and flagella. It is essential for intraflagellar transport (IFT) and plays a critical role in the development and maintenance of sensory cilia in photoreceptor cells and renal epithelial cells. Mutations in KIF17 are associated with nephronophthisis and retinitis pigmentosa.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis | Defective ciliary transport due to loss-of-function mutations in KIF17 disrupts renal epithelial cell polarity and leads to cyst formation and fibrosis. | ClinVar, OMIM |
| Retinitis pigmentosa | Impaired KIF17-mediated transport in photoreceptor cilia causes progressive retinal degeneration. | ClinVar, OMIM |
| Joubert syndrome | KIF17 mutations contribute to ciliary dysfunction underlying cerebellar and retinal abnormalities. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Retina | 7.1 | Medium |
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression in embryonic kidney cells |
| ARPE-19 | 8.5 | Retinal pigment epithelial cell line |
| HepG2 | 4.1 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1642C>T (p.Arg548*) | Nonsense | Rare | Loss of function; truncation of motor domain |
| c.215G>A (p.Arg72His) | Missense | Rare | Impaired ATPase activity and microtubule binding |
| c.2870_2871del (p.Leu957fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg548*, p.Leu957fs) lead to truncated or absent protein, disrupting ciliary transport.
Gain of Function (GOF)
No gain-of-function mutations reported for KIF17.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg72His) may act in a dominant-negative manner by forming non-functional dimers.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule-based movement (GO:0007018) |
| • intraciliary transport (GO:0035721) | • cilium assembly (GO:0060271) |
| • protein binding (GO:0005515) |
Pathways
• Intraflagellar transport (IFT)
• Ciliary assembly and maintenance
• Photoreceptor cell maintenance
Protein Summary
KIF17 is a homodimeric kinesin-2 family motor protein that moves cargo along microtubules in cilia. It consists of an N-terminal motor domain, a coiled-coil stalk, and a C-terminal tail domain. The motor domain binds ATP and microtubules, while the tail interacts with cargo adaptors. KIF17 is essential for anterograde intraflagellar transport, delivering structural and signaling components to the ciliary tip. It is highly expressed in tissues with motile or sensory cilia, such as kidney, retina, and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF17 Knockout HEK293 Cell Line | EDJ-KQ13937 | Human | 57576 | Details Get a Quote |
| KIF17 Knockout A-549 Cell Line | EDJ-KQ43835 | Human | 57576 | Details Get a Quote |
| KIF17 Knockout HCT 116 Cell Line | EDJ-KQ43836 | Human | 57576 | Details Get a Quote |
| KIF17 Knockout HeLa Cell Line | EDJ-KQ56872 | Human | 57576 | Details Get a Quote |
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