SFRP1 (Secreted Frizzled Related Protein 1)
A Wnt signaling antagonist with tumor suppressor roles, implicated in multiple cancers and developmental processes.
Gene Information Card
| Symbol | SFRP1 |
|---|---|
| Full Name | Secreted Frizzled Related Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.21 |
| NCBI Gene ID | 6422 ncbi.nlm.nih.gov/gene/6422 |
| Ensembl ID | ENSG00000104332 |
| UniProt ID | Q8N474 |
| OMIM ID | 604156 |
| HGNC ID | 10776 |
| Aliases | FRP, FRP1, SARP2, sFRP1 |
Description
SFRP1 encodes a secreted protein that modulates Wnt signaling by binding to Wnt ligands and preventing their interaction with Frizzled receptors. It acts as a tumor suppressor in various cancers, and its expression is often downregulated via promoter methylation. SFRP1 is involved in developmental processes, cell proliferation, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Loss of SFRP1 expression via promoter hypermethylation leads to aberrant Wnt activation, promoting tumorigenesis. | Multiple studies; ClinVar and COSMIC list somatic alterations. |
| Breast Cancer | Reduced SFRP1 expression correlates with poor prognosis; epigenetic silencing contributes to Wnt pathway activation. | ClinVar and literature; COSMIC shows mutations. |
| Gastric Cancer | Hypermethylation of SFRP1 promoter is frequent, leading to Wnt signaling activation and tumor progression. | ClinVar and literature. |
| Osteoarthritis | SFRP1 modulates Wnt signaling in chondrocytes; altered expression may contribute to cartilage degradation. | Literature; not in ClinVar. |
| Alzheimer's Disease | SFRP1 is upregulated in brain and may modulate Wnt signaling involved in neurodegeneration. | Literature; not in ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 3.1 | Low |
| Kidney | 15.2 | Medium |
| Brain | 20.4 | High |
| Colon | 5.6 | Low |
| Breast | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 8.5 | Moderate expression; often reduced in cancer. |
| HCT116 (colorectal cancer) | 2.3 | Low expression due to methylation. |
| HEK293 (embryonic kidney) | 15.0 | High expression; used for functional studies. |
| A549 (lung cancer) | 6.7 | Moderate expression. |
| HepG2 (liver cancer) | 4.2 | Low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.-8C>T (promoter) | SNV | Rare | May affect transcription factor binding; associated with altered expression. |
| p.Arg154Cys | Missense | 0.01% | Potential disruption of cysteine-rich domain; functional impact unclear. |
| p.Gly226Asp | Missense | 0.005% | Located in netrin-like domain; may affect protein folding. |
| p.Leu281Phe | Missense | 0.002% | Not characterized; likely benign. |
| Promoter hypermethylation | Epigenetic | Frequent in cancers | Silences gene expression, leading to Wnt activation. |
Mutation functional classification
Loss of Function (LOF)
Loss of SFRP1 function (via methylation or inactivating mutations) leads to increased Wnt signaling, promoting cell proliferation and tumorigenesis.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression may inhibit Wnt signaling in some contexts.
Dominant Negative (DN)
No evidence of dominant-negative effects; SFRP1 acts as a secreted antagonist, and mutations are typically loss-of-function.
View complete mutation data：
Gene Ontology (GO)
| • Wnt-protein binding | • Wnt signaling pathway |
| • negative regulation of canonical Wnt signaling pathway | • extracellular space |
| • cell proliferation | • apoptotic process |
Pathways
• Wnt signaling pathway
• Hedgehog signaling pathway
• Regulation of beta-catenin signaling
Protein Summary
SFRP1 is a secreted glycoprotein of approximately 35 kDa, containing a cysteine-rich domain (CRD) homologous to the Wnt-binding domain of Frizzled receptors. It binds Wnt ligands and inhibits Wnt signaling, thereby regulating cell fate, proliferation, and differentiation. SFRP1 is widely expressed in adult tissues and is often downregulated in cancers, contributing to tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SFRP1 Knockout HEK293 Cell Line | EDJ-KQ2575 | Human | 6422 | Details Get a Quote |
| SFRP1 Knockout A-549 Cell Line | EDJ-KQ23257 | Human | 6422 | Details Get a Quote |
| SFRP1 Knockout HeLa Cell Line | EDJ-KQ54446 | Human | 6422 | Details Get a Quote |
| SFRP1 Knockout HCT 116 Cell Line | EDJ-KQ71406 | Human | 6422 | Details Get a Quote |
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