KIFBP Gene - Kinesin Family Member Binding Protein
Genetic and Functional Insights into KIFBP
Gene Information Card
| Symbol | KIFBP |
|---|---|
| Full Name | Kinesin Family Member Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 26128 ncbi.nlm.nih.gov/gene/26128 |
| Ensembl ID | ENSG00000138166 |
| UniProt ID | Q96EK5 |
| OMIM ID | 609367 |
| HGNC ID | 23421 |
| Aliases | KBP, KIAA1279, TTC20 |
Description
KIFBP (Kinesin Family Member Binding Protein) encodes a protein that binds to kinesin family members and is involved in intracellular transport, neuronal development, and ciliary function. Mutations in this gene are associated with Goldberg-Shprintzen syndrome and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Goldberg-Shprintzen syndrome | Loss-of-function mutations disrupt kinesin binding, impairing neuronal migration and axonal transport | OMIM #609460 |
| Intellectual disability | Missense variants may alter protein stability or interaction with kinesins | ClinVar |
| Microcephaly | Reduced KIFBP expression affects cortical development | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Kidney | 8.5 | Low |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 18.4 | Neuronal cell line |
| HEK293 | 12.1 | Embryonic kidney cells |
| HeLa | 9.7 | Cervical carcinoma cells |
| HepG2 | 7.3 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35*) | Nonsense | Rare | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Likely damaging |
| c.832_833del (p.Leu278fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing kinesin binding and intracellular transport.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • microtubule motor activity (GO:0003777) |
| • microtubule-based movement (GO:0007018) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) |
Pathways
• Kinesin-mediated transport
• Ciliary transport
• Axonal transport
Protein Summary
KIFBP is a 621-amino acid protein that contains tetratricopeptide repeats and interacts with kinesin family members, particularly KIF1B and KIF5B. It is essential for neuronal migration, axon guidance, and ciliary function. The protein localizes to the cytoplasm and cilia, and its loss leads to defects in intracellular transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIFBP Knockout HEK293 Cell Line | EDJ-KQ7743 | Human | 26128 | Details Get a Quote |
| KIFBP Knockout A-549 Cell Line | EDJ-KQ34509 | Human | 26128 | Details Get a Quote |
| KIFBP Knockout HCT 116 Cell Line | EDJ-KQ34510 | Human | 26128 | Details Get a Quote |
| KIFBP Knockout HeLa Cell Line | EDJ-KQ34511 | Human | 26128 | Details Get a Quote |
