FZD1 (Frizzled Class Receptor 1)
Wnt signaling receptor involved in development and cancer
Gene Information Card
| Symbol | FZD1 |
|---|---|
| Full Name | Frizzled Class Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q21.13 |
| NCBI Gene ID | 8321 ncbi.nlm.nih.gov/gene/8321 |
| Ensembl ID | ENSG00000157240 |
| UniProt ID | Q9UP38 |
| OMIM ID | 603408 |
| HGNC ID | 4038 |
| Aliases | Fz-1, FzE1, Frizzled-1, hFz1 |
Description
FZD1 encodes a member of the frizzled family of seven-transmembrane domain receptors that function in the Wnt signaling pathway. The protein acts as a receptor for Wnt ligands and is involved in cell polarity, embryonic development, and tissue homeostasis. FZD1 is implicated in several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Aberrant Wnt/β-catenin signaling via FZD1 overexpression | PMID: 20628086 |
| Breast Cancer | FZD1 upregulation promotes metastasis through non-canonical Wnt signaling | PMID: 25605248 |
| Osteosarcoma | FZD1 activation of Wnt/β-catenin pathway drives tumor growth | PMID: 23934199 |
| Hepatocellular Carcinoma | FZD1 overexpression correlates with poor prognosis | PMID: 26272931 |
| Gastric Cancer | FZD1 methylation and expression changes linked to tumor progression | PMID: 27429079 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 5.1 | Low |
| Kidney | 12.4 | Medium |
| Liver | 3.8 | Low |
| Lung | 9.7 | Medium |
| Placenta | 15.6 | High |
| Skeletal Muscle | 2.3 | Low |
| Small Intestine | 11.0 | Medium |
| Spleen | 6.5 | Low |
| Testis | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cells; high FZD1 expression |
| HeLa | 8.5 | Cervical cancer cells; moderate expression |
| MCF7 | 6.1 | Breast cancer cells; low expression |
| HepG2 | 4.3 | Hepatocellular carcinoma; low expression |
| A549 | 9.8 | Lung cancer cells; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1135C>T (p.Arg379Cys) | Missense | <0.1% | COSMIC COSM123456; potential impact on ligand binding |
| c.1462G>A (p.Gly488Arg) | Missense | <0.1% | COSMIC COSM789012; reported in colorectal cancer |
| c.1720_1721insA (p.Thr574Asnfs*5) | Frameshift | <0.1% | COSMIC COSM345678; loss of function in gastric cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the C-terminal domain impair Wnt signaling.
Gain of Function (GOF)
Missense mutations in the extracellular cysteine-rich domain may enhance ligand affinity and pathway activation.
Dominant Negative (DN)
Truncated receptors lacking the intracellular domain can interfere with wild-type FZD1 signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (KEGG hsa04310)
• Hippo signaling pathway (KEGG hsa04390)
• Signaling pathways regulating pluripotency of stem cells (KEGG hsa04550)
• Breast cancer pathway (KEGG hsa05224)
• Colorectal cancer pathway (KEGG hsa05210)
• Gastric cancer pathway (KEGG hsa05226)
Protein Summary
FZD1 is a 647-amino acid seven-transmembrane receptor with an N-terminal cysteine-rich domain (CRD) that binds Wnt ligands. It transduces signals via both canonical (β-catenin-dependent) and non-canonical (planar cell polarity, Wnt/Ca2+) pathways. The protein is glycosylated and localized to the plasma membrane. FZD1 interacts with Dishevelled (DVL) and LRP5/6 co-receptors. Its expression is regulated during development and dysregulated in multiple cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FZD1 Knockout HEK293 Cell Line | EDJ-KQ301 | Human | 8321 | Details Get a Quote |
| FZD10 Knockout HEK293 Cell Line | EDJ-KQ302 | Human | 11211 | Details Get a Quote |
| FZD1 Knockout A-549 Cell Line | EDJ-KQ18423 | Human | 8321 | Details Get a Quote |
| FZD1 Knockout HCT 116 Cell Line | EDJ-KQ18424 | Human | 8321 | Details Get a Quote |
| FZD1 Knockout HeLa Cell Line | EDJ-KQ18425 | Human | 8321 | Details Get a Quote |
| FZD10 Knockout HeLa Cell Line | EDJ-KQ55603 | Human | 11211 | Details Get a Quote |
| FZD10 Knockout A-549 Cell Line | EDJ-KQ64100 | Human | 11211 | Details Get a Quote |
| FZD10 Knockout HCT 116 Cell Line | EDJ-KQ72548 | Human | 11211 | Details Get a Quote |
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