IFT54: Intraflagellar Transport 54
A core component of the intraflagellar transport complex B, essential for ciliogenesis and implicated in ciliopathies and cancer.
Gene Information Card
| Symbol | IFT54 |
|---|---|
| Full Name | Intraflagellar Transport 54 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 26146 ncbi.nlm.nih.gov/gene/26146 |
| Ensembl ID | ENSG00000144381 |
| UniProt ID | Q8WZ73 |
| OMIM ID | 607879 |
| HGNC ID | 17072 |
| Aliases | TRAF3IP1, MIP-T3, IFT54 |
Description
IFT54 (Intraflagellar Transport 54), also known as TRAF3IP1, encodes a protein that is a core component of the intraflagellar transport (IFT) complex B. This complex is essential for the assembly and maintenance of cilia and flagella by mediating anterograde transport of cargo along the axoneme. IFT54 interacts with TRAF3 and is involved in ciliary signaling, cell cycle regulation, and immune responses. Mutations in IFT54 cause ciliopathies, including nephronophthisis and retinal degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 18 | Loss of IFT54 disrupts ciliary function in renal tubular cells, leading to cyst formation and fibrosis. | OMIM #615862; PMID: 25920555 |
| Joubert syndrome 26 | Defective ciliogenesis due to IFT54 mutations impairs cerebellar and retinal development. | OMIM #619562; PMID: 31534211 |
| Retinitis pigmentosa | IFT54 deficiency compromises photoreceptor outer segment renewal via impaired ciliary transport. | PMID: 25920555 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Kidney | 12.3 | Medium |
| Lung | 9.8 | Medium |
| Brain | 6.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| HeLa | 11.7 | Cervical cancer cell line |
| A549 | 8.9 | Lung carcinoma cell line |
| HepG2 | 5.3 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416*) | Nonsense | Rare | Loss of function; truncation of IFT54 protein |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Impaired IFT complex B assembly |
| c.1685_1686del (p.Glu562Glyfs*2) | Frameshift | Rare | Premature stop; loss of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in IFT54 lead to truncated or absent protein, disrupting ciliary transport and causing ciliopathies.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with IFT complex B assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • intraflagellar transport complex B (GO:0030992) | • protein binding (GO:0005515) |
| • cell projection organization (GO:0030030) | • cilium assembly (GO:0060271) |
| • signal transduction (GO:0007165) |
Pathways
• HSA-5620912: Anterograde intraflagellar transport
• HSA-1852241: Organelle biogenesis and maintenance
• HSA-5620920: Cargo trafficking in cilia
Protein Summary
The IFT54 protein (UniProt Q8WZ73) is a 637-amino-acid component of the IFT-B complex. It contains a coiled-coil domain and a TRAF3-binding region. IFT54 localizes to the basal body and axoneme of cilia, where it facilitates the transport of ciliary cargo. It also interacts with the cytoskeleton and is involved in cell cycle progression and immune signaling via TRAF3.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT54 Knockout HEK293 Cell Line | EDJ-KQ8432 | Human | 26146 | Details Get a Quote |
| IFT54 Knockout A-549 Cell Line | EDJ-KQ34542 | Human | 26146 | Details Get a Quote |
| IFT54 Knockout HCT 116 Cell Line | EDJ-KQ34543 | Human | 26146 | Details Get a Quote |
| IFT54 Knockout HeLa Cell Line | EDJ-KQ34544 | Human | 26146 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
