IFT57 Gene - Intraflagellar Transport 57
Essential Component of the Intraflagellar Transport Complex B
Gene Information Card
| Symbol | IFT57 |
|---|---|
| Full Name | Intraflagellar Transport 57 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.12 |
| NCBI Gene ID | 55081 ncbi.nlm.nih.gov/gene/55081 |
| Ensembl ID | ENSG00000114480 |
| UniProt ID | Q9NWB7 |
| OMIM ID | 606621 |
| HGNC ID | 17367 |
| Aliases | Hippi, MGC87282, FLJ10713 |
Description
The IFT57 gene encodes a component of the intraflagellar transport (IFT) complex B, which is essential for the assembly and maintenance of cilia. IFT57 is involved in the anterograde transport of cargo along ciliary microtubules. Mutations in IFT57 are associated with ciliopathies, including Joubert syndrome and orofaciodigital syndrome. The protein also interacts with HIP1 and caspase-8, suggesting a role in apoptosis regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert Syndrome | Loss of IFT57 disrupts ciliary signaling, leading to cerebellar and retinal defects. | OMIM #617761; PMID: 29374277 |
| Orofaciodigital Syndrome | Impaired ciliogenesis due to IFT57 deficiency affects craniofacial development. | OMIM #617894; PMID: 29374277 |
| Primary Ciliary Dyskinesia | Defective IFT complex B impairs mucociliary clearance. | PMID: 29374277 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Lung | 8.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.1 | High expression in embryonic kidney cells |
| HeLa | 18.4 | Moderate expression in cervical cancer cells |
| HepG2 | 9.7 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1183C>T (p.Arg395*) | Nonsense | Rare | Premature stop, loss of function |
| c.1552G>A (p.Gly518Arg) | Missense | Rare | Likely disrupts IFT complex binding |
| c.197_198del (p.Gln66Argfs*12) | Frameshift | Rare | Loss of function, associated with Joubert syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent IFT57 protein, impairing ciliogenesis.
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)
Pathways
• Intraflagellar transport (KEGG: hsa04540)
• Cilium assembly (Reactome: R-HSA-5620924)
Protein Summary
IFT57 is a 57 kDa protein that localizes to the base of cilia and is a core component of the IFT-B complex. It facilitates the anterograde transport of structural and signaling proteins into the cilium. The protein contains a coiled-coil domain and interacts with IFT88 and IFT20. IFT57 also binds HIP1 and caspase-8, linking ciliary function to apoptotic pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT57 Knockout HEK293 Cell Line | EDJ-KQ13806 | Human | 55081 | Details Get a Quote |
| IFT57 Knockout A-549 Cell Line | EDJ-KQ43614 | Human | 55081 | Details Get a Quote |
| IFT57 Knockout HCT 116 Cell Line | EDJ-KQ43615 | Human | 55081 | Details Get a Quote |
| IFT57 Knockout HeLa Cell Line | EDJ-KQ43616 | Human | 55081 | Details Get a Quote |
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