KIF5B
Kinesin Family Member 5B: A Key Motor Protein in Intracellular Transport and Disease
Gene Information Card
| Symbol | KIF5B |
|---|---|
| Full Name | kinesin family member 5B |
| Gene Type | protein-coding |
| Chromosomal Location | 10p11.22 |
| NCBI Gene ID | 3799 ncbi.nlm.nih.gov/gene/3799 |
| Ensembl ID | ENSG00000170759 |
| UniProt ID | P33176 |
| OMIM ID | 602809 |
| HGNC ID | 6323 |
| Aliases | KNS1, KINH, KIF5B, DKFZp686I10196 |
Description
KIF5B (kinesin family member 5B) encodes a heavy chain subunit of kinesin-1, a microtubule-associated motor protein that transports organelles, vesicles, and macromolecular complexes along microtubules toward the plus end. It is essential for axonal transport, mitochondrial distribution, and mitotic spindle positioning. Mutations and fusions involving KIF5B are implicated in various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung adenocarcinoma | KIF5B-RET fusion leads to constitutive RET kinase activation, driving oncogenesis | PMID: 22285168, COSMIC |
| Charcot-Marie-Tooth disease type 2 | Missense mutations impair axonal transport of mitochondria and other cargo | PMID: 29358615, ClinVar |
| Breast cancer | KIF5B overexpression associated with poor prognosis; potential role in mitotic spindle defects | PMID: 25691885 |
| Glioblastoma | KIF5B amplification and altered expression linked to tumor progression | PMID: 23583980 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.2 | High |
| Lung | 22.5 | Medium |
| Heart | 18.7 | Medium |
| Liver | 12.3 | Low |
| Kidney | 15.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 45.6 | Cervical cancer cell line |
| A549 | 32.1 | Lung adenocarcinoma cell line |
| SH-SY5Y | 50.3 | Neuroblastoma cell line |
| MCF7 | 28.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| KIF5B-RET fusion | Gene fusion | ~1-2% in lung adenocarcinoma | Constitutive RET kinase activation; oncogenic driver |
| p.Arg280Cys | Missense | Rare | Impaired cargo binding; associated with CMT2 |
| p.Glu237Lys | Missense | Rare | Reduced motor activity; axonal transport defect |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg280Cys) reduce microtubule binding or cargo transport, leading to axonal degeneration in Charcot-Marie-Tooth disease.
Gain of Function (GOF)
KIF5B-RET fusion results in constitutive RET kinase signaling, promoting cell proliferation and tumorigenesis.
Dominant Negative (DN)
Some KIF5B mutations may act dominant-negatively by forming non-functional heterodimers, impairing kinesin-1 complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • intracellular transport |
| • axonal transport | • mitochondrial transport |
| • cell division |
Pathways
• Kinesin-mediated transport
• Axonal transport
• Mitochondrial transport
• RET signaling (in fusion context)
Protein Summary
KIF5B is a 963-amino acid kinesin-1 heavy chain protein with an N-terminal motor domain, a coiled-coil stalk, and a C-terminal cargo-binding tail. It forms a heterotetramer with kinesin light chains to transport cargoes such as mitochondria, lysosomes, and mRNA complexes. The protein is ubiquitously expressed, with highest levels in brain and lung. Post-translational modifications include phosphorylation and acetylation, regulating its activity and localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF5B Knockout HEK293 Cell Line | EDJ-KQ2872 | Human | 3799 | Details Get a Quote |
| KIF5B Knockout HCT 116 Cell Line | EDJ-KQ22543 | Human | 3799 | Details Get a Quote |
| KIF5B Knockout A-549 Cell Line | EDJ-KQ23913 | Human | 3799 | Details Get a Quote |
| KIF5B Knockout HeLa Cell Line | EDJ-KQ23914 | Human | 3799 | Details Get a Quote |
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