FNIP1 Gene
Folliculin Interacting Protein 1
Gene Information Card
| Symbol | FNIP1 |
|---|---|
| Full Name | Folliculin Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q23.3 |
| NCBI Gene ID | 96459 ncbi.nlm.nih.gov/gene/96459 |
| Ensembl ID | ENSG00000113648 |
| UniProt ID | Q8TF70 |
| OMIM ID | 610297 |
| HGNC ID | 29418 |
| Aliases | FNIPL, KIAA1580 |
Description
FNIP1 encodes folliculin interacting protein 1, a key regulator of energy and nutrient sensing through the AMPK and mTOR signaling pathways. It interacts with folliculin (FLCN) and AMPK to modulate cell growth, metabolism, and autophagy. Loss-of-function mutations are associated with Birt-Hogg-Dubé syndrome and renal cell carcinoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Birt-Hogg-Dubé syndrome | Loss of FNIP1 disrupts FLCN-AMPK interaction, leading to dysregulated mTOR signaling and tumorigenesis | OMIM #610297; ClinVar |
| Renal cell carcinoma (non-papillary) | FNIP1 mutations impair tumor suppressor function, promoting cell proliferation | COSMIC; NCBI Gene |
| Hereditary leiomyomatosis and renal cell cancer (HLRCC) | FNIP1 variants may contribute to metabolic reprogramming in FH-deficient tumors | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| A549 | 9.1 | Moderate expression |
| MCF7 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1285C>T (p.Arg429*) | Nonsense | <1% | Loss of function; truncation |
| c.610G>A (p.Gly204Arg) | Missense | <0.5% | Impaired FLCN binding |
| c.1742_1743del (p.Glu581Valfs*12) | Frameshift | <0.1% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Most FNIP1 mutations are loss-of-function, leading to reduced FLCN interaction and mTOR pathway activation.
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)
| • protein binding (GO:0005515) | • protein serine/threonine kinase activity (GO:0004674) |
| • cellular response to insulin stimulus (GO:0032869) | • glucose homeostasis (GO:0042593) |
| • autophagy (GO:0006914) |
Pathways
• AMPK signaling pathway (Reactome: R-HSA-380952)
• mTORC1 signaling (Reactome: R-HSA-165159)
• Energy metabolism (KEGG: hsa04920)
Protein Summary
FNIP1 is a 1166-amino acid protein that forms a complex with folliculin (FLCN) and AMPK. It acts as a scaffold to regulate AMPK-mediated phosphorylation of FLCN, thereby controlling mTORC1 activity in response to energy status. The protein is widely expressed, with highest levels in kidney and lung. Loss of FNIP1 leads to constitutive mTOR activation and contributes to tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FNIP1 Knockout HEK293 Cell Line | EDJ-KQ1151 | Human | 96459 | Details Get a Quote |
| FNIP1 Knockout HeLa Cell Line | EDJ-KQ19037 | Human | 96459 | Details Get a Quote |
| FNIP1 Knockout A-549 Cell Line | EDJ-KQ20379 | Human | 96459 | Details Get a Quote |
| FNIP1 Knockout HCT 116 Cell Line | EDJ-KQ20380 | Human | 96459 | Details Get a Quote |
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