IFTAP Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the IFTAP gene, including its genomic context, expression patterns, associated diseases, and mutational landscape.
Gene Information Card
| Symbol | IFTAP |
|---|---|
| Full Name | Intraflagellar transport associated protein |
| Gene Type | protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 126626 ncbi.nlm.nih.gov/gene/126626 |
| Ensembl ID | ENSG00000143183 |
| UniProt ID | Q8N7P3 |
| OMIM ID | 619120 |
| HGNC ID | HGNC:26703 |
| Aliases | C1orf86, FLJ32658 |
Description
The IFTAP gene (intraflagellar transport associated protein) encodes a protein involved in the intraflagellar transport (IFT) machinery, which is essential for the assembly and maintenance of cilia. IFTAP is localized to the basal body and axoneme of cilia and interacts with IFT-B complex components. It plays a role in ciliary transport and is implicated in ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ciliopathy-related disorders | Defects in IFTAP disrupt intraflagellar transport, leading to impaired ciliary function and signaling. | OMIM: 619120; PubMed: 31230714 |
| Retinitis pigmentosa | Mutations in IFTAP cause retinal degeneration due to defective photoreceptor cilia. | ClinVar: RCV001851234; PubMed: 31230714 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Lung | 6.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.2 | Ciliated cell line |
| HEK293 | 4.8 | Ciliated cell line |
| A549 | 3.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154C>T (p.Arg52Ter) | Nonsense | Rare | Loss of function leading to truncated protein |
| c.371G>A (p.Arg124His) | Missense | Rare | Potential impact on protein stability |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IFTAP, such as nonsense or frameshift variants, lead to truncated or absent protein, disrupting intraflagellar transport and causing ciliary dysfunction.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IFTAP.
Dominant Negative (DN)
No dominant-negative mutations have been described; IFTAP mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • intraflagellar transport |
| • protein binding | • cilium |
Pathways
• Intraflagellar transport (IFT)
• Ciliary assembly
Protein Summary
The IFTAP protein is a component of the intraflagellar transport machinery, specifically associated with the IFT-B complex. It is essential for the bidirectional movement of cargo along ciliary microtubules. IFTAP localizes to the basal body and axoneme, and its dysfunction leads to ciliopathies, including retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFTAP Knockout HEK293 Cell Line | EDJ-KQ7648 | Human | 119710 | Details Get a Quote |
| IFTAP Knockout A-549 Cell Line | EDJ-KQ33007 | Human | 119710 | Details Get a Quote |
| IFTAP Knockout HCT 116 Cell Line | EDJ-KQ33008 | Human | 119710 | Details Get a Quote |
| IFTAP Knockout HeLa Cell Line | EDJ-KQ33009 | Human | 119710 | Details Get a Quote |
