KIFC3
Kinesin Family Member C3, a minus-end-directed microtubule motor protein
Gene Information Card
| Symbol | KIFC3 |
|---|---|
| Full Name | kinesin family member C3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q13-q21 |
| NCBI Gene ID | 3801 ncbi.nlm.nih.gov/gene/3801 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | O14782 |
| OMIM ID | 603845 |
| HGNC ID | 6320 |
| Aliases | KNSL8, KIFC3A, KIFC3B |
Description
KIFC3 encodes a member of the kinesin-14 family of microtubule motor proteins. This protein moves toward the minus end of microtubules and is involved in various cellular processes including vesicle transport, spindle organization during mitosis, and ciliary assembly. It is widely expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression and mutations may contribute to tumorigenesis through disrupted cell division and transport. | COSMIC database reports somatic mutations in multiple cancer types. |
| Primary ciliary dyskinesia (possible) | Defects in ciliary function due to KIFC3 dysfunction may impair mucociliary clearance. | Limited evidence; functional studies in model organisms suggest role in ciliogenesis. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 12.3 | Medium |
| Lung | 9.8 | Medium |
| Liver | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 11.7 | Lung cancer cell line |
| HEK293 | 9.4 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Glu117Lys | Missense | 0.02% (COSMIC) | Unknown; possibly benign |
| p.Arg456* | Nonsense | 0.01% (COSMIC) | Likely loss of function |
| c.1234_1235insA | Frameshift insertion | 0.005% (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • minus-end-directed microtubule movement |
| • vesicle transport along microtubule | • mitotic spindle organization |
| • ciliary assembly |
Pathways
• Kinesin-mediated transport
• Microtubule-dependent transport
• Cargo trafficking in cilia
Protein Summary
KIFC3 is a 110 kDa protein belonging to the kinesin-14 family. It contains an N-terminal motor domain that binds microtubules and hydrolyzes ATP to generate force toward the minus end. The protein also has a coiled-coil stalk domain and a C-terminal tail domain involved in cargo binding. It localizes to the Golgi apparatus, centrosomes, and ciliary basal bodies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIFC3 Knockout HEK293 Cell Line | EDJ-KQ5059 | Human | 3801 | Details Get a Quote |
| KIFC3 Knockout A-549 Cell Line | EDJ-KQ27968 | Human | 3801 | Details Get a Quote |
| KIFC3 Knockout HCT 116 Cell Line | EDJ-KQ27969 | Human | 3801 | Details Get a Quote |
| KIFC3 Knockout HeLa Cell Line | EDJ-KQ27970 | Human | 3801 | Details Get a Quote |