EMILIN1
Elastin Microfibril Interfacer 1
Gene Information Card
| Symbol | EMILIN1 |
|---|---|
| Full Name | Elastin Microfibril Interfacer 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3-p23.2 |
| NCBI Gene ID | 11117 ncbi.nlm.nih.gov/gene/11117 |
| Ensembl ID | ENSG00000138080 |
| UniProt ID | Q9Y6C2 |
| OMIM ID | 608928 |
| HGNC ID | 19880 |
| Aliases | EMILIN, gp115, MGC111102 |
Description
EMILIN1 encodes a member of the emilin family of extracellular matrix glycoproteins. The protein is a component of elastic fibers and interacts with elastin and microfibrils, contributing to the structural integrity and elasticity of connective tissues. It is involved in cell adhesion, migration, and signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Connective Tissue Disorders | Altered elastic fiber assembly due to EMILIN1 mutations | OMIM #608928 |
| Aortic Aneurysm | Disruption of vascular extracellular matrix integrity | ClinVar |
| Cutis Laxa | Defective elastic fiber formation leading to loose skin | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Artery | 12.5 | Medium |
| Lung | 8.3 | Low |
| Skin | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic Smooth Muscle Cells | 15.0 | Primary cells |
| Fibroblasts | 10.2 | Primary cells |
| Endothelial Cells | 7.8 | Primary cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69Trp) | Missense | <0.01% | Altered protein function |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Reduced secretion |
| c.1234delC | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Missense mutations may interfere with multimerization
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • cell adhesion |
| • elastic fiber assembly | • integrin binding |
Pathways
• Elastic fiber formation
• Extracellular matrix organization
Protein Summary
EMILIN1 is a 115 kDa glycoprotein that forms homotrimers and interacts with elastin and fibrillin-1. It localizes to the interface between elastic fibers and microfibrils, facilitating proper assembly. The protein contains an N-terminal signal peptide, a coiled-coil region, and a C-terminal globular domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMILIN1 Knockout HEK293 Cell Line | EDJ-KQ7291 | Human | 11117 | Details Get a Quote |
| EMILIN1 Knockout HeLa Cell Line | EDJ-KQ55574 | Human | 11117 | Details Get a Quote |
| EMILIN1 Knockout A-549 Cell Line | EDJ-KQ64070 | Human | 11117 | Details Get a Quote |
| EMILIN1 Knockout HCT 116 Cell Line | EDJ-KQ72520 | Human | 11117 | Details Get a Quote |
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