MMRN1 (Multimerin 1)
Gene encoding a large, homopolymeric, platelet and endothelial cell adhesion protein involved in hemostasis and thrombosis.
Gene Information Card
| Symbol | MMRN1 |
|---|---|
| Full Name | Multimerin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q22.1 |
| NCBI Gene ID | 22915 ncbi.nlm.nih.gov/gene/22915 |
| Ensembl ID | ENSG00000138722 |
| UniProt ID | Q13201 |
| OMIM ID | 601456 |
| HGNC ID | 7178 |
| Aliases | EMILIN-4, GPIa*, MMRN |
Description
MMRN1 encodes multimerin 1, a large, homopolymeric glycoprotein stored in platelet alpha-granules and endothelial cell Weibel-Palade bodies. It functions as a cell adhesion and extracellular matrix protein, binding to integrins and promoting platelet adhesion and thrombus formation. Multimerin 1 is a member of the EMILIN family and is involved in hemostasis and vascular biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Platelet-type bleeding disorder | Deficiency of multimerin 1 impairs platelet adhesion and aggregation, leading to mild bleeding tendency. | ClinVar, OMIM |
| Thrombosis | Elevated plasma multimerin 1 levels may contribute to increased thrombotic risk. | PubMed studies |
| von Willebrand disease (VWD) | Multimerin 1 interacts with von Willebrand factor; altered levels may modulate VWD phenotype. | Research articles |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Blood | 8.3 | Low |
| Spleen | 6.7 | Low |
| Lung | 5.1 | Low |
| Heart | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Megakaryocytes | 15.0 | High expression |
| Platelets | 12.0 | High expression |
| Endothelial cells (HUVEC) | 10.5 | Moderate expression |
| HEK 293 | 2.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.187C>T (p.Arg63*) | Nonsense | Rare | Loss of function; associated with reduced multimerin 1 levels |
| c.456delG (p.Leu153fs) | Frameshift | Rare | Loss of function; predicted protein truncation |
| c.789A>G (p.Ile263Val) | Missense | 0.01% | Unknown significance; benign prediction |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent multimerin 1 protein, associated with bleeding disorders.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • extracellular matrix organization |
| • platelet degranulation | • integrin binding |
| • protein homooligomerization |
Pathways
• Platelet activation
• signaling and aggregation
• Hemostasis
• Integrin signaling
Protein Summary
Multimerin 1 is a 1,228-amino acid glycoprotein that forms large homopolymers. It contains an EMI domain, a collagen-like domain, and a C-terminal globular domain. The protein is stored in platelet alpha-granules and endothelial cell Weibel-Palade bodies and is released upon activation. It mediates cell adhesion via integrin receptors and contributes to thrombus formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMRN1 Knockout HEK293 Cell Line | EDJ-KQ3655 | Human | 22915 | Details Get a Quote |
| MMRN1 Knockout HeLa Cell Line | EDJ-KQ55655 | Human | 22915 | Details Get a Quote |
| MMRN1 Knockout A-549 Cell Line | EDJ-KQ64154 | Human | 22915 | Details Get a Quote |
| MMRN1 Knockout HCT 116 Cell Line | EDJ-KQ72600 | Human | 22915 | Details Get a Quote |
