MASP1 Gene
MBL Associated Serine Protease 1
Gene Information Card
| Symbol | MASP1 |
|---|---|
| Full Name | MBL associated serine protease 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.3 |
| NCBI Gene ID | 5648 ncbi.nlm.nih.gov/gene/5648 |
| Ensembl ID | ENSG00000127241 |
| UniProt ID | P48740 |
| OMIM ID | 600521 |
| HGNC ID | 6901 |
| Aliases | CRARF, MASP, MASP-1, PRSS5, RaRF |
Description
The MASP1 gene encodes a serine protease that plays a key role in the lectin pathway of the complement system. It is involved in the activation of complement components C2 and C4, and also participates in coagulation and fibrinolysis. Mutations in MASP1 are associated with 3MC syndrome, a rare autosomal recessive disorder characterized by facial dysmorphism, cleft lip/palate, and other developmental anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3MC syndrome | Loss-of-function mutations in MASP1 impair complement activation and developmental signaling | ClinVar, OMIM |
| Complement deficiency | Deficient MASP1 activity reduces lectin pathway function | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Pancreas | 3.2 | Low |
| Kidney | 1.8 | Low |
| Lung | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Liver cancer cell line |
| HEK 293 | 2.5 | Embryonic kidney cells |
| A549 | 0.8 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.805G>A (p.Gly269Arg) | Missense | Rare | Loss of function |
| c.1138C>T (p.Arg380Trp) | Missense | Rare | Loss of function |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations in MASP1 that reduce or abolish protease activity lead to complement lectin pathway deficiency and 3MC syndrome.
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)
| • serine-type endopeptidase activity (GO:0004252) | • extracellular region (GO:0005576) |
| • complement activation (GO:0006956) | • complement activation (GO:0001867) |
| • proteolysis (GO:0006508) |
Pathways
• Complement and coagulation cascades (KEGG: hsa04610)
• Lectin pathway of complement activation
Protein Summary
MASP1 is a serine protease synthesized primarily in the liver and secreted into the blood. It forms complexes with mannose-binding lectin (MBL) and ficolins, and upon pathogen recognition, it activates the complement cascade by cleaving C2 and C4. MASP1 also cleaves prothrombin and factor XIII, linking complement to coagulation. The protein consists of six domains: two CUB domains, an EGF-like domain, two CCP domains, and a serine protease domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MASP1 Knockout HEK293 Cell Line | EDJ-KQ4801 | Human | 5648 | Details Get a Quote |
| MASP1 Knockout HeLa Cell Line | EDJ-KQ54230 | Human | 5648 | Details Get a Quote |
| MASP1 Knockout A-549 Cell Line | EDJ-KQ62722 | Human | 5648 | Details Get a Quote |
| MASP1 Knockout HCT 116 Cell Line | EDJ-KQ71194 | Human | 5648 | Details Get a Quote |
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