KIF1B
Kinesin Family Member 1B: A Microtubule-Dependent Motor Protein Implicated in Neuroblastoma and Charcot-Marie-Tooth Disease
Gene Information Card
| Symbol | KIF1B |
|---|---|
| Full Name | kinesin family member 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 23095 ncbi.nlm.nih.gov/gene/23095 |
| Ensembl ID | ENSG00000163661 |
| UniProt ID | O60333 |
| OMIM ID | 605995 |
| HGNC ID | 6322 |
| Aliases | CMT2A1, CMT2A, HMSN II, KLP, KNS1, KIAA0591, bA525O21.1 |
Description
KIF1B (kinesin family member 1B) encodes a microtubule-dependent motor protein that transports mitochondria and synaptic vesicle precursors along axons. It is essential for neuronal survival and function. Mutations in KIF1B are associated with Charcot-Marie-Tooth disease type 2A1 (CMT2A1) and neuroblastoma susceptibility. The gene undergoes alternative splicing to produce two major isoforms: KIF1Bα and KIF1Bβ, with distinct cargo-binding domains.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 2A1 (CMT2A1) | Loss-of-function mutations impair axonal transport of mitochondria, leading to peripheral neuropathy | OMIM #118210; ClinVar |
| Neuroblastoma (susceptibility) | Missense mutations (e.g., p.Arg169Trp) reduce pro-apoptotic activity, promoting tumorigenesis | COSMIC; PMID 18372901 |
| Hereditary motor and sensory neuropathy type II | Dominant-negative mutations disrupt kinesin dimerization and cargo binding | OMIM #605995 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Adrenal gland | 8.3 | Medium |
| Testis | 6.1 | Medium |
| Spinal cord | 5.9 | Medium |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in functional studies |
| HeLa (cervical carcinoma) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 6.5 | Moderate expression |
| A549 (lung carcinoma) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.505C>T (p.Arg169Trp) | Missense | <1% in neuroblastoma | Reduced pro-apoptotic function; associated with neuroblastoma susceptibility |
| c.59A>G (p.Gln20Arg) | Missense | Rare | Impaired mitochondrial transport; linked to CMT2A1 |
| c.1645C>T (p.Arg549*) | Nonsense | Very rare | Loss of motor domain; causes CMT2A1 |
| c.2929C>T (p.Arg977Cys) | Missense | <0.1% | Dominant-negative effect; peripheral neuropathy |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg549*) lead to truncated protein lacking motor domain, impairing axonal transport and causing CMT2A1.
Gain of Function (GOF)
Not well documented; some missense variants may alter cargo specificity but evidence is limited.
Dominant Negative (DN)
Missense mutations in the stalk domain (e.g., p.Arg977Cys) disrupt dimerization and inhibit wild-type KIF1B function, contributing to neuropathy.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Kinesin-mediated axonal transport (Reactome: R-HSA-983189)
• Mitochondrial transport along microtubules (Reactome: R-HSA-983191)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
KIF1B is a kinesin-3 family motor protein that moves along microtubules toward the plus end. It consists of an N-terminal motor domain with ATPase activity, a coiled-coil stalk for dimerization, and a C-terminal cargo-binding domain. Isoform KIF1Bα transports mitochondria, while KIF1Bβ transports synaptic vesicle precursors. The protein is critical for neuronal survival; loss of function leads to peripheral neuropathy and increased susceptibility to neuroblastoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF1B Knockout HEK293 Cell Line | EDJ-KQ7826 | Human | 23095 | Details Get a Quote |
| KIF1B Knockout HCT 116 Cell Line | EDJ-KQ32036 | Human | 23095 | Details Get a Quote |
| KIF1B Knockout A-549 Cell Line | EDJ-KQ33361 | Human | 23095 | Details Get a Quote |
| KIF1B Knockout HeLa Cell Line | EDJ-KQ33363 | Human | 23095 | Details Get a Quote |
