IFT70A (Intraflagellar Transport 70A)
IFT70A: A core component of the intraflagellar transport machinery involved in ciliary assembly and function.
Gene Information Card
| Symbol | IFT70A |
|---|---|
| Full Name | Intraflagellar Transport 70A |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 23253 ncbi.nlm.nih.gov/gene/23253 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9Y2B0 |
| OMIM ID | 617871 |
| HGNC ID | HGNC:25723 |
| Aliases | FLJ10534, MGC138290, IFT70, TTC30A |
Description
IFT70A encodes a tetratricopeptide repeat (TPR) domain-containing protein that is a core component of the intraflagellar transport (IFT) complex B. This protein is essential for the assembly and maintenance of cilia and flagella by mediating anterograde transport of cargo along the axoneme. Mutations in IFT70A are associated with ciliopathies, including skeletal abnormalities and retinal degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ciliopathy (skeletal dysplasia) | Loss of IFT70A disrupts IFT-B complex assembly, impairing ciliogenesis and Hedgehog signaling | PMID: 26044572 |
| Retinitis pigmentosa | Defective ciliary transport in photoreceptor cells leads to progressive retinal degeneration | PMID: 28416584 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebellum) | 8.7 | Low |
| Lung | 6.3 | Low |
| Kidney | 5.1 | Low |
| Liver | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Ciliated cervical cancer cell line |
| HEK 293 | 9.8 | Embryonic kidney cells with primary cilia |
| RPE1 | 14.1 | Retinal pigment epithelial cells, ciliated |
| A549 | 7.3 | Lung carcinoma, low ciliation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Disrupts TPR domain; reduced IFT-B binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of IFT-B function, impairing ciliogenesis.
Gain of Function (GOF)
No evidence of gain-of-function mutations in IFT70A.
Dominant Negative (DN)
Missense mutations in TPR domains may act as dominant negative by disrupting complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • intraflagellar transport complex B (GO:0030992) |
| • intraciliary retrograde transport (GO:0035721) | • cilium assembly (GO:0060271) |
| • protein binding (GO:0005515) |
Pathways
• Intraflagellar transport (IFT) (Reactome: R-HSA-5620920)
• Hedgehog signaling (ciliary) (KEGG: hsa04340)
Protein Summary
IFT70A is a 70 kDa protein containing multiple tetratricopeptide repeats that mediate protein-protein interactions within the IFT-B complex. It localizes to the base of cilia and along the axoneme, facilitating the transport of structural and signaling proteins. The protein is highly conserved in ciliated eukaryotes and is essential for ciliary maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT70A Knockout HEK293 Cell Line | EDJ-KQ13807 | Human | 92104 | Details Get a Quote |
| IFT70A Knockout HeLa Cell Line | EDJ-KQ42349 | Human | 92104 | Details Get a Quote |
| IFT70A Knockout A-549 Cell Line | EDJ-KQ43617 | Human | 92104 | Details Get a Quote |
| IFT70A Knockout HCT 116 Cell Line | EDJ-KQ78012 | Human | 92104 | Details Get a Quote |
