FSD1L
Fibronectin Type III and SPRY Domain Containing 1 Like
Gene Information Card
| Symbol | FSD1L |
|---|---|
| Full Name | Fibronectin Type III and SPRY Domain Containing 1 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 83879 ncbi.nlm.nih.gov/gene/83879 |
| Ensembl ID | ENSG00000106701 |
| UniProt ID | Q9BUB5 |
| OMIM ID | 609535 |
| HGNC ID | 20387 |
| Aliases | FSD1L1, MGC12966 |
Description
FSD1L (fibronectin type III and SPRY domain containing 1 like) is a protein-coding gene located on chromosome 9q34.3. It encodes a protein containing fibronectin type III and SPRY domains, which may be involved in protein-protein interactions and signaling. The gene is conserved in mammals and has been studied in the context of cellular adhesion and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.8 | Low |
| Liver | 1.5 | Not detected |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations documented in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • fibronectin type III domain binding |
| • SPRY domain |
Pathways
• No curated pathways available
Protein Summary
The FSD1L protein contains fibronectin type III and SPRY domains, suggesting roles in protein-protein interactions and potentially in cell adhesion or signaling. Its precise function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FSD1L Knockout HEK293 Cell Line | EDJ-KQ9910 | Human | 83856 | Details Get a Quote |
| FSD1L Knockout A-549 Cell Line | EDJ-KQ36800 | Human | 83856 | Details Get a Quote |
| FSD1L Knockout HCT 116 Cell Line | EDJ-KQ36801 | Human | 83856 | Details Get a Quote |
| FSD1L Knockout HeLa Cell Line | EDJ-KQ36802 | Human | 83856 | Details Get a Quote |
