ECM1: Extracellular Matrix Protein 1
A glycoprotein involved in skin integrity, angiogenesis, and tumor biology
Gene Information Card
| Symbol | ECM1 |
|---|---|
| Full Name | Extracellular Matrix Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 1893 ncbi.nlm.nih.gov/gene/1893 |
| Ensembl ID | ENSG00000143369 |
| UniProt ID | Q16610 |
| OMIM ID | 602201 |
| HGNC ID | 3153 |
| Aliases | UWB1, UWB2 |
Description
The ECM1 gene encodes extracellular matrix protein 1, a secreted glycoprotein that plays a critical role in skin integrity, angiogenesis, and extracellular matrix organization. Mutations in ECM1 cause lipoid proteinosis (Urbach-Wiethe disease), a rare autosomal recessive disorder characterized by skin thickening and hoarseness. ECM1 is also implicated in tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lipoid Proteinosis (Urbach-Wiethe disease) | Loss-of-function mutations in ECM1 disrupt extracellular matrix structure, leading to hyaline deposits in skin and mucosa. | OMIM #247100 |
| Breast Cancer | ECM1 overexpression promotes tumor cell invasion and angiogenesis via interaction with matrix metalloproteinases. | PMID: 19351830 |
| Lung Cancer | ECM1 upregulation correlates with poor prognosis and enhanced metastatic potential. | PMID: 21912567 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Placenta | 15.2 | Medium |
| Heart | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 14.8 | High expression |
| A549 (lung cancer) | 9.2 | Moderate expression |
| HaCaT (keratinocyte) | 18.5 | High expression |
| HEK293 (embryonic kidney) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.507delC | Frameshift deletion | Rare | Loss of function – lipoid proteinosis |
| c.735C>T (p.Gln245*) | Nonsense | Rare | Premature stop – lipoid proteinosis |
| c.1246G>A (p.Gly416Ser) | Missense | Rare | Structural disruption – lipoid proteinosis |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in ECM1 lead to truncated or absent protein, causing lipoid proteinosis.
Gain of Function (GOF)
Not reported in ECM1.
Dominant Negative (DN)
Not reported in ECM1.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular space (GO:0005615) |
| • extracellular matrix structural constituent (GO:0005201) | • cell adhesion (GO:0007155) |
| • angiogenesis (GO:0001525) |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Integrin signaling pathway (KEGG: hsa04510)
Protein Summary
ECM1 is a 540-amino-acid secreted glycoprotein with two isoforms (ECM1a and ECM1b). It binds to various extracellular matrix components including collagen and fibronectin, regulating matrix assembly and cell adhesion. ECM1 also modulates angiogenesis by interacting with vascular endothelial growth factor (VEGF).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECM1 Knockout HEK293 Cell Line | EDJ-KQ4496 | Human | 1893 | Details Get a Quote |
| ECM1 Knockout A-549 Cell Line | EDJ-KQ27078 | Human | 1893 | Details Get a Quote |
| ECM1 Knockout HeLa Cell Line | EDJ-KQ27079 | Human | 1893 | Details Get a Quote |
| ECM1 Knockout HCT 116 Cell Line | EDJ-KQ18234 | Human | 1893 | Details Get a Quote |
| Ecm1 Knockout CT26.WT Cell Line | EDJ-KZ204 | Mouse | 13601 | Details Get a Quote |
