FILIP1L
Filamin A Interacting Protein 1 Like
Gene Information Card
| Symbol | FILIP1L |
|---|---|
| Full Name | Filamin A Interacting Protein 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 3q12.1 |
| NCBI Gene ID | 11259 ncbi.nlm.nih.gov/gene/11259 |
| Ensembl ID | ENSG00000168386 |
| UniProt ID | Q5VXY3 |
| OMIM ID | 612378 |
| HGNC ID | 25989 |
| Aliases | FILIP1L, FLJ00060, GIP, GIP130, KIAA1354, RP11-54H19.1 |
Description
FILIP1L (Filamin A Interacting Protein 1 Like) is a protein-coding gene located on chromosome 3q12.1. It encodes a protein that interacts with filamin A and is involved in the regulation of cell migration, angiogenesis, and cytoskeletal organization. FILIP1L is considered a potential tumor suppressor, with downregulation observed in various cancers. Its expression is associated with endothelial cell function and vascular development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Downregulation of FILIP1L may promote tumor growth and metastasis through altered cytoskeletal dynamics and angiogenesis | PMID: 23468908 |
| Gastric cancer | Reduced FILIP1L expression correlates with poor prognosis and increased invasion | PMID: 25695676 |
| Hepatocellular carcinoma | FILIP1L acts as a tumor suppressor; loss of expression linked to aggressive phenotype | PMID: 27323851 |
| Ovarian cancer | Epigenetic silencing of FILIP1L contributes to tumor progression | PMID: 22198284 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 8.2 | Medium |
| Brain | 4.5 | Low |
| Lung | 6.1 | Medium |
| Liver | 3.8 | Low |
| Kidney | 7.9 | Medium |
| Testis | 12.3 | High |
| Placenta | 9.5 | Medium |
| Skeletal muscle | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.2 | High expression in endothelial cells |
| HeLa | 4.1 | Low expression |
| A549 | 3.5 | Low expression |
| MCF7 | 2.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.1% | Loss of function; truncation |
| c.1567G>A (p.Gly523Arg) | Missense | <0.1% | Unknown significance |
| c.2110_2111insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of actin cytoskeleton (Reactome: R-HSA-5663222)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
The FILIP1L protein (UniProt Q5VXY3) is a 130 kDa cytoplasmic protein that interacts with filamin A, an actin-crosslinking protein. It plays a role in cytoskeletal organization, cell migration, and angiogenesis. FILIP1L is highly expressed in endothelial cells and testis. Its downregulation in multiple cancers suggests a tumor suppressor function, possibly through modulation of Rho GTPase signaling and actin dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FILIP1L Knockout HEK293 Cell Line | EDJ-KQ7358 | Human | 11259 | Details Get a Quote |
| FILIP1L Knockout HeLa Cell Line | EDJ-KQ55616 | Human | 11259 | Details Get a Quote |
| FILIP1L Knockout A-549 Cell Line | EDJ-KQ64115 | Human | 11259 | Details Get a Quote |
| FILIP1L Knockout HCT 116 Cell Line | EDJ-KQ72560 | Human | 11259 | Details Get a Quote |
