SPON1: Spondin-1 Gene - Extracellular Matrix Protein in Neural Development
Comprehensive genomic and proteomic analysis of SPON1, encoding the extracellular matrix protein spondin-1, with roles in axon guidance, cell adhesion, and cancer.
Gene Information Card
| Symbol | SPON1 |
|---|---|
| Full Name | spondin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.2 |
| NCBI Gene ID | 10418 ncbi.nlm.nih.gov/gene/10418 |
| Ensembl ID | ENSG00000165949 |
| UniProt ID | Q9HCB6 |
| OMIM ID | 605114 |
| HGNC ID | 11252 |
| Aliases | F-spondin, KIAA0762, VSGP |
Description
SPON1 (spondin 1) encodes spondin-1, also known as F-spondin, a secreted extracellular matrix protein predominantly expressed in the developing nervous system. It promotes axon growth, guidance, and neuronal migration by interacting with integrins and other cell surface receptors. SPON1 is also implicated in cell adhesion, angiogenesis, and tumor progression. Alternative splicing generates multiple isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | SPON1 polymorphisms may influence amyloid-beta aggregation and tau pathology; altered expression in brain regions affected by Alzheimer disease. | NCBI Gene, ClinVar |
| Colorectal cancer | SPON1 overexpression in tumor stroma promotes angiogenesis and metastasis via integrin-mediated signaling. | COSMIC, NCBI Gene |
| Breast cancer | SPON1 expression correlates with poor prognosis; promotes epithelial-mesenchymal transition and invasion. | COSMIC, NCBI Gene |
| Ovarian cancer | SPON1 (VSGP) is a vascular smooth muscle growth factor; upregulated in ovarian cancer and associated with tumor vasculature. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 15.3 | Medium |
| Heart | 3.2 | Low |
| Liver | 1.1 | Not detected |
| Kidney | 2.8 | Low |
| Lung | 4.5 | Low |
| Placenta | 8.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.7 | High expression; used in neuronal differentiation studies |
| U-87 MG (glioblastoma) | 22.1 | High expression; associated with tumor invasiveness |
| MCF7 (breast cancer) | 6.3 | Moderate expression |
| HCT116 (colorectal cancer) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% (gnomAD) | May alter protein folding and secretion; reported in ClinVar as variant of uncertain significance |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | Rare | Predicted loss-of-function; no disease association established |
| c.2345G>A (p.Arg782His) | Missense | 0.005% (gnomAD) | Located in thrombospondin domain; potential impact on integrin binding |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause nonsense-mediated decay or truncated protein; no confirmed pathogenic loss-of-function alleles in disease.
Gain of Function (GOF)
Not established; overexpression in cancer suggests potential oncogenic gain-of-function via increased cell adhesion and migration.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Axon guidance (Reactome: R-HSA-422475)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
Spondin-1 (UniProt Q9HCB6) is a secreted 807-amino acid glycoprotein containing an N-terminal reeler domain, two thrombospondin type 1 repeats, and a C-terminal spondin domain. It is synthesized as a precursor and cleaved to generate active fragments. Spondin-1 binds to integrins (e.g., α4β1, α9β1) and promotes cell adhesion, neurite outgrowth, and angiogenesis. It is highly expressed in the developing nervous system and in various cancers, where it modulates tumor microenvironment and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPON1 Knockout HEK293 Cell Line | EDJ-KQ7039 | Human | 10418 | Details Get a Quote |
| SPON1 Knockout HeLa Cell Line | EDJ-KQ55405 | Human | 10418 | Details Get a Quote |
| SPON1 Knockout A-549 Cell Line | EDJ-KQ63885 | Human | 10418 | Details Get a Quote |
| SPON1 Knockout HCT 116 Cell Line | EDJ-KQ72343 | Human | 10418 | Details Get a Quote |
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