RFTN1
Raftlin, Lipid Raft Linker 1
Gene Information Card
| Symbol | RFTN1 |
|---|---|
| Full Name | Raftlin, Lipid Raft Linker 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p24.3 |
| NCBI Gene ID | 23180 ncbi.nlm.nih.gov/gene/23180 |
| Ensembl ID | ENSG00000163827 |
| UniProt ID | Q14699 |
| OMIM ID | 610600 |
| HGNC ID | 30278 |
| Aliases | MIG2, RFTN, FLJ20184 |
Description
RFTN1 encodes raftlin, a protein that localizes to lipid rafts and is involved in B-cell receptor signaling, cell adhesion, and migration. It links the plasma membrane to the actin cytoskeleton and may play a role in immune responses and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote cell migration and invasion | COSMIC, literature |
| Lung cancer | Altered expression linked to tumor progression | COSMIC, literature |
| Systemic lupus erythematosus | Potential role in B-cell signaling dysregulation | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Leukemia cell line |
| HeLa | 8.7 | Cervical cancer cell line |
| A549 | 6.4 | Lung cancer cell line |
| MCF7 | 5.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T | Missense | 0.01% | p.Arg349Trp; uncertain significance |
| c.1234G>A | Missense | 0.005% | p.Gly412Ser; uncertain significance |
| c.789_790insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789_790insA) likely cause loss of raftlin function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005886 (GO:0005886) | • GO:0005737 (GO:0005737) |
| • GO:0005515 (GO:0005515) | • GO:0007165 (GO:0007165) |
| • GO:0030036 (GO:0030036) |
Pathways
• B cell receptor signaling pathway
• Fc gamma R-mediated phagocytosis
Protein Summary
Raftlin is a 547-amino acid protein that contains a cysteine-rich domain and a coiled-coil region. It binds to the cytoplasmic tail of integrins and links lipid rafts to the actin cytoskeleton, facilitating cell adhesion and migration. It is highly expressed in lymphoid tissues and is implicated in immune signaling and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RFTN1 Knockout HEK293 Cell Line | EDJ-KQ7873 | Human | 23180 | Details Get a Quote |
| RFTN1 Knockout HCT 116 Cell Line | EDJ-KQ32129 | Human | 23180 | Details Get a Quote |
| RFTN1 Knockout A-549 Cell Line | EDJ-KQ33454 | Human | 23180 | Details Get a Quote |
| RFTN1 Knockout HeLa Cell Line | EDJ-KQ33455 | Human | 23180 | Details Get a Quote |
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