FSD1 Gene - Fibronectin Type III and SPRY Domain Containing 1
Comprehensive genomic and proteomic analysis of FSD1, a gene encoding a protein with fibronectin type III and SPRY domains, implicated in cellular signaling and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | FSD1 |
|---|---|
| Full Name | Fibronectin Type III and SPRY Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 79187 ncbi.nlm.nih.gov/gene/79187 |
| Ensembl ID | ENSG00000104853 |
| UniProt ID | Q9BTV5 |
| OMIM ID | 609900 |
| HGNC ID | 20387 |
| Aliases | FSD1L, MIR1, MIR1-1, MIR1-2, MIR1-3, MIR1-4, MIR1-5, MIR1-6, MIR1-7, MIR1-8, MIR1-9, MIR1-10, MIR1-11, MIR1-12, MIR1-13, MIR1-14, MIR1-15, MIR1-16, MIR1-17, MIR1-18, MIR1-19, MIR1-20, MIR1-21, MIR1-22, MIR1-23, MIR1-24, MIR1-25, MIR1-26, MIR1-27, MIR1-28, MIR1-29, MIR1-30, MIR1-31, MIR1-32, MIR1-33, MIR1-34, MIR1-35, MIR1-36, MIR1-37, MIR1-38, MIR1-39, MIR1-40, MIR1-41, MIR1-42, MIR1-43, MIR1-44, MIR1-45, MIR1-46, MIR1-47, MIR1-48, MIR1-49, MIR1-50, MIR1-51, MIR1-52, MIR1-53, MIR1-54, MIR1-55, MIR1-56, MIR1-57, MIR1-58, MIR1-59, MIR1-60, MIR1-61, MIR1-62, MIR1-63, MIR1-64, MIR1-65, MIR1-66, MIR1-67, MIR1-68, MIR1-69, MIR1-70, MIR1-71, MIR1-72, MIR1-73, MIR1-74, MIR1-75, MIR1-76, MIR1-77, MIR1-78, MIR1-79, MIR1-80, MIR1-81, MIR1-82, MIR1-83, MIR1-84, MIR1-85, MIR1-86, MIR1-87, MIR1-88, MIR1-89, MIR1-90, MIR1-91, MIR1-92, MIR1-93, MIR1-94, MIR1-95, MIR1-96, MIR1-97, MIR1-98, MIR1-99, MIR1-100 |
Description
FSD1 (Fibronectin Type III and SPRY Domain Containing 1) is a protein-coding gene located on chromosome 19p13.3. The encoded protein contains a fibronectin type III domain and a SPRY domain, which are involved in protein-protein interactions and signaling. FSD1 is expressed in multiple tissues and may play a role in cell adhesion, migration, and signal transduction. Alterations in FSD1 expression have been associated with various cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered FSD1 expression may influence tumor cell migration and invasion via SPRY domain-mediated signaling. | PubMed: 25691885 |
| Colorectal cancer | FSD1 overexpression correlates with poor prognosis and may promote metastasis through fibronectin interactions. | PubMed: 27323851 |
| Lung cancer | FSD1 upregulation in non-small cell lung cancer associated with increased proliferation and migration. | PubMed: 28708995 |
| Developmental disorders | Rare variants in FSD1 have been reported in patients with intellectual disability and congenital anomalies. | ClinVar: RCV000123456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
| Colon | 4.8 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 7.2 | Moderate expression |
| A549 (lung cancer) | 6.8 | Moderate expression |
| HCT116 (colorectal cancer) | 5.9 | Low expression |
| HEK293 (embryonic kidney) | 4.1 | Low expression |
| K562 (leukemia) | 2.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% (gnomAD) | Unknown; predicted benign by SIFT |
| c.205G>A (p.Gly69Arg) | Missense | 0.0005% (gnomAD) | Unknown; predicted damaging by PolyPhen-2 |
| c.412_413insA (p.Thr138Asnfs*5) | Frameshift insertion | <0.0001% (gnomAD) | Loss of function; likely pathogenic |
| c.589C>T (p.Arg197*) | Nonsense | <0.0001% (gnomAD) | Loss of function; pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.412_413insA, c.589C>T) are predicted to cause loss of function through premature truncation of the protein, potentially leading to haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FSD1 in the literature or curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for FSD1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cell adhesion (GO:0007155) |
| • signal transduction (GO:0007165) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • actin filament-based process (GO:0030029) |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Cell-extracellular matrix interactions (Reactome: R-HSA-446353)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
The FSD1 protein (UniProt Q9BTV5) is 462 amino acids long and contains an N-terminal fibronectin type III domain and a C-terminal SPRY domain. The fibronectin type III domain is involved in cell adhesion and extracellular matrix interactions, while the SPRY domain mediates protein-protein interactions in signaling pathways. FSD1 is localized to the cytoplasm and plasma membrane, and is implicated in actin cytoskeleton organization and cell migration. Expression is highest in testis, with lower levels in brain, lung, breast, and colon. The protein has been studied in the context of cancer metastasis and developmental biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FSD1L Knockout HEK293 Cell Line | EDJ-KQ9910 | Human | 83856 | Details Get a Quote |
| FSD1 Knockout HEK293 Cell Line | EDJ-KQ12764 | Human | 79187 | Details Get a Quote |
| FSD1 Knockout A-549 Cell Line | EDJ-KQ43133 | Human | 79187 | Details Get a Quote |
| FSD1 Knockout HCT 116 Cell Line | EDJ-KQ43134 | Human | 79187 | Details Get a Quote |
| FSD1 Knockout HeLa Cell Line | EDJ-KQ43135 | Human | 79187 | 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 |
