KIF3A Gene: Kinesin Family Member 3A
Essential subunit of the kinesin-2 motor complex, critical for intraflagellar transport and ciliary function; implicated in ciliopathies and cancer.
Gene Information Card
| Symbol | KIF3A |
|---|---|
| Full Name | Kinesin Family Member 3A |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 11127 ncbi.nlm.nih.gov/gene/11127 |
| Ensembl ID | ENSG00000131437 |
| UniProt ID | Q9Y496 |
| OMIM ID | 604683 |
| HGNC ID | 6319 |
| Aliases | KIF3, FLJ25369, MGC15161 |
Description
KIF3A encodes a member of the kinesin superfamily of motor proteins. It forms a heterotetrameric complex with KIF3B and KAP3, constituting the kinesin-2 motor that drives anterograde intraflagellar transport (IFT) along microtubules. This transport is essential for the assembly and maintenance of primary cilia and flagella. KIF3A is involved in various cellular processes including cell division, intracellular trafficking, and signaling pathways. Mutations and dysregulation of KIF3A have been linked to ciliopathies and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ciliopathies (e.g., Bardet-Biedl syndrome, Meckel syndrome) | Loss of KIF3A function disrupts ciliary transport, leading to defective cilia formation and signaling, contributing to the multisystemic features of ciliopathies. | ClinVar, OMIM |
| Renal cystic disease | Impaired ciliary function due to KIF3A deficiency leads to aberrant renal tubular cell proliferation and cyst formation. | ClinVar, OMIM |
| Cancer (e.g., breast, lung, colorectal) | Altered KIF3A expression affects cell proliferation, migration, and invasion; may act as a tumor suppressor or oncogene depending on context. | COSMIC, PubMed (via NCBI) |
| Retinitis pigmentosa | KIF3A mutations impair photoreceptor cell ciliary transport, leading to retinal degeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.9 | Low |
| Kidney | 15.3 | Medium |
| Testis | 20.1 | High |
| Liver | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 18.4 | High expression; used in ciliary studies |
| A549 (lung cancer) | 10.2 | Moderate expression |
| MCF7 (breast cancer) | 7.8 | Low expression |
| HEK293 (embryonic kidney) | 22.5 | High expression; commonly used for functional assays |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Truncated protein, loss of function, associated with ciliopathy phenotypes |
| c.456_458del (p.Lys152del) | In-frame deletion | Rare | Disrupts motor domain, impairs ATPase activity and cargo transport |
| c.789A>G (p.Ile263Met) | Missense | Somatic (cancer) | May alter protein stability or interaction with KIF3B; observed in tumor samples |
| c.1001G>A (p.Arg334Gln) | Missense | Rare | Uncertain significance; possibly affects microtubule binding |
Mutation functional classification
Loss of Function (LOF)
Most KIF3A mutations in ciliopathies are loss-of-function, leading to defective ciliary assembly and signaling.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in some cancers may promote oncogenic phenotypes.
Dominant Negative (DN)
Some missense mutations in the motor domain may exert dominant-negative effects by interfering with the kinesin-2 complex function.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • kinesin complex | • intraflagellar transport |
| • cilium assembly | • microtubule-based movement |
| • protein transport |
Pathways
• Intraflagellar transport (IFT)
• Hedgehog signaling pathway
• Wnt signaling pathway
• Ciliary assembly and maintenance
Protein Summary
KIF3A is a 697-amino acid protein with an N-terminal motor domain that hydrolyzes ATP to generate force along microtubules. It forms a heterodimer with KIF3B and associates with the non-motor subunit KAP3 to form the kinesin-2 complex. This complex is essential for anterograde IFT, transporting protein complexes from the cell body to the ciliary tip. KIF3A also participates in mitotic spindle organization and chromosome segregation. Post-translational modifications, such as phosphorylation, regulate its activity and localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF3A Knockout HEK293 Cell Line | EDJ-KQ904 | Human | 11127 | Details Get a Quote |
| KIF3A Knockout A-549 Cell Line | EDJ-KQ19753 | Human | 11127 | Details Get a Quote |
| KIF3A Knockout HCT 116 Cell Line | EDJ-KQ19754 | Human | 11127 | Details Get a Quote |
| KIF3A Knockout HeLa Cell Line | EDJ-KQ19755 | Human | 11127 | Details Get a Quote |
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