IFT81: Intraflagellar Transport 81
Essential Component of the IFT-B Complex for Cilia Assembly and Function
Gene Information Card
| Symbol | IFT81 |
|---|---|
| Full Name | Intraflagellar Transport 81 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 28981 ncbi.nlm.nih.gov/gene/28981 |
| Ensembl ID | ENSG00000122970 |
| UniProt ID | Q8WYA0 |
| OMIM ID | 614489 |
| HGNC ID | 19913 |
| Aliases | CDV-1, CDV1, IFT81, hIFT81 |
Description
IFT81 encodes a core component of the intraflagellar transport (IFT) complex B, which is essential for the assembly and maintenance of cilia. The protein binds to IFT74 and together they form a tubulin-binding module that transports tubulin subunits into the growing cilium. Mutations in IFT81 cause skeletal ciliopathies, particularly short-rib thoracic dysplasia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Short-rib thoracic dysplasia 19 with or without polydactyly | Loss-of-function mutations impair IFT-B complex assembly, disrupting ciliogenesis and causing skeletal defects | OMIM #617895 |
| Asphyxiating thoracic dystrophy (Jeune syndrome) | Defective ciliary transport leads to abnormal bone development | ClinVar, literature |
| Ciliopathy-related retinal degeneration | Impaired ciliary function in photoreceptor cells | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Lung | 18.5 | Medium |
| Kidney | 16.3 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.1 | Embryonic kidney cells |
| HeLa | 19.8 | Cervical cancer cells |
| HepG2 | 15.6 | Hepatocellular carcinoma cells |
| A549 | 14.3 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1730G>A (p.Arg577His) | Missense | Rare | Disrupts IFT74 binding, reduces ciliogenesis |
| c.1186C>T (p.Arg396*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1642_1643del (p.Leu548fs) | Frameshift | Rare | Loss of C-terminal domain, impaired complex assembly |
Mutation functional classification
Loss of Function (LOF)
Most reported IFT81 mutations are loss-of-function, leading to reduced cilia assembly and length.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Intraflagellar transport (IFT)
• Cilium assembly
• Hedgehog signaling (ciliary-dependent)
Protein Summary
IFT81 is a 676-amino acid protein that forms a heterodimer with IFT74, functioning as a tubulin carrier within the IFT-B complex. It localizes to the base of cilia and is required for the transport of tubulin into the ciliary compartment. The protein contains a coiled-coil domain mediating dimerization and a C-terminal region critical for IFT74 interaction. Loss of IFT81 disrupts ciliary axoneme elongation, leading to ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT81 Knockout HEK293 Cell Line | EDJ-KQ8950 | Human | 28981 | Details Get a Quote |
| IFT81 Knockout A-549 Cell Line | EDJ-KQ35322 | Human | 28981 | Details Get a Quote |
| IFT81 Knockout HCT 116 Cell Line | EDJ-KQ35323 | Human | 28981 | Details Get a Quote |
| IFT81 Knockout HeLa Cell Line | EDJ-KQ35324 | Human | 28981 | Details Get a Quote |
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