SCUBE1 Gene
Signal Peptide, CUB Domain, and EGF-like Domain-Containing Protein 1
Gene Information Card
| Symbol | SCUBE1 |
|---|---|
| Full Name | Signal Peptide, CUB Domain And EGF Like Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 80274 ncbi.nlm.nih.gov/gene/80274 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | Q8IWY4 |
| OMIM ID | 611746 |
| HGNC ID | 14655 |
| Aliases | C6orf97, MEGF10, SCUBE1 |
Description
SCUBE1 encodes a secreted protein that contains an N-terminal signal peptide, multiple EGF-like repeats, and a C-terminal CUB domain. It is involved in cell adhesion, platelet activation, and angiogenesis. The protein is expressed in various tissues and is implicated in cancer progression and cardiovascular diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression promotes tumor growth and metastasis via angiogenesis and cell adhesion | PMID: 23455478 |
| Coronary artery disease | SCUBE1 levels correlate with platelet activation and disease severity | PMID: 24713467 |
| Ischemic stroke | Elevated SCUBE1 in plasma as a biomarker for acute ischemic stroke | PMID: 25306148 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 15.2 | Medium |
| Kidney | 9.1 | Low |
| Placenta | 22.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 18.4 | Endothelial cell line |
| HEK293 | 6.2 | Embryonic kidney |
| A549 | 14.7 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown functional impact |
| c.567G>A | Synonymous | 0.2% | No effect on protein |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function in cancer.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion |
| • angiogenesis | • platelet activation |
| • extracellular region |
Pathways
• Platelet activation
• signaling and aggregation
• VEGF signaling pathway
Protein Summary
SCUBE1 is a secreted glycoprotein that modulates cell-cell and cell-matrix interactions. It contains EGF-like repeats that bind calcium and a CUB domain involved in protein-protein interactions. The protein is released from activated platelets and promotes endothelial cell migration and tube formation, contributing to angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCUBE1 Knockout HEK293 Cell Line | EDJ-KQ9510 | Human | 80274 | Details Get a Quote |
| SCUBE1 Knockout HeLa Cell Line | EDJ-KQ57321 | Human | 80274 | Details Get a Quote |
| SCUBE1 Knockout A-549 Cell Line | EDJ-KQ65827 | Human | 80274 | Details Get a Quote |
| SCUBE1 Knockout HCT 116 Cell Line | EDJ-KQ74250 | Human | 80274 | Details Get a Quote |
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