IFT43: Intraflagellar Transport 43 Gene
Ciliary transport protein involved in skeletal development and ciliopathies
Gene Information Card
| Symbol | IFT43 |
|---|---|
| Full Name | Intraflagellar Transport 43 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 11273 ncbi.nlm.nih.gov/gene/11273 |
| Ensembl ID | ENSG00000119698 |
| UniProt ID | Q96L33 |
| OMIM ID | 614068 |
| HGNC ID | 29687 |
| Aliases | CFAP19, C14orf179, FLJ22174, MGC10744 |
Description
IFT43 encodes a component of the intraflagellar transport (IFT) complex A, which is essential for the assembly and maintenance of primary cilia. The protein is involved in retrograde ciliary transport and plays a critical role in ciliary signaling pathways. Mutations in IFT43 cause Cranioectodermal Dysplasia (Sensenbrenner syndrome), a ciliopathy characterized by skeletal abnormalities, renal disease, and ectodermal defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cranioectodermal Dysplasia 3 (Sensenbrenner syndrome) | Loss-of-function mutations impair retrograde IFT, disrupting ciliary assembly and signaling | OMIM #614099; multiple case reports |
| Short-rib thoracic dysplasia 18 with polydactyly | Defective ciliary transport leads to skeletal patterning defects | OMIM #617866; rare homozygous variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Medium |
| Lung | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cell line |
| HeLa | 7.8 | Cervical carcinoma cell line |
| HepG2 | 5.4 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.275G>A (p.Arg92Gln) | Missense | Rare | Loss of IFT-A complex binding; ciliopathy |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein; severe skeletal dysplasia |
| c.640C>T (p.Arg214*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most IFT43 mutations are loss-of-function, leading to impaired retrograde IFT and ciliary dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • intraflagellar transport (GO:0035735) | • cilium (GO:0005929) |
| • intraciliary transport particle A (GO:0030991) | • cilium assembly (GO:0060271) |
| • protein binding (GO:0005515) |
Pathways
• Intraflagellar transport (R-HSA-5620920)
• Cilium assembly (R-HSA-5617833)
• Hedgehog signaling (cilium-dependent)
Protein Summary
IFT43 is a 243-amino acid protein that localizes to the ciliary base and axoneme. It is a core component of the IFT-A complex, which mediates retrograde transport from the ciliary tip to the cell body. The protein interacts with other IFT-A subunits (e.g., IFT122, IFT140) and is required for proper ciliary protein trafficking and signaling, particularly in the Hedgehog pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT43 Knockout HEK293 Cell Line | EDJ-KQ7393 | Human | 112752 | Details Get a Quote |
| IFT43 Knockout HCT 116 Cell Line | EDJ-KQ31176 | Human | 112752 | Details Get a Quote |
| IFT43 Knockout A-549 Cell Line | EDJ-KQ32544 | Human | 112752 | Details Get a Quote |
| IFT43 Knockout HeLa Cell Line | EDJ-KQ32546 | Human | 112752 | Details Get a Quote |
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