MASP1 Chromosome 3
MBL associated serine protease 1
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What This Gene Does
This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Serine proteases|Sushi domain containing|Complement system activation components"
Locus Type
gene with protein product
Location
3q27.3
Ensembl
ENSG00000127241
Associated Conditions (7)
3MC syndrome 1
Monogenic hearing loss
Inborn genetic diseases
MASP1-related disorder
Ovarian cancer
Gastric cancer
Ovarian serous cystadenocarcinoma
Key Variants
RS113938200
Conflicting classifications of pathogenicity
3MC syndrome 1, Monogenic hearing loss, 3MC syndrome 1
Health Risk
RS116001173
Conflicting classifications of pathogenicity
3MC syndrome 1, Inborn genetic diseases, MASP1-related disorder
Health Risk
RS138234047
Conflicting classifications of pathogenicity
3MC syndrome 1, Inborn genetic diseases, 3MC syndrome 1
Health Risk
RS138989954
Conflicting classifications of pathogenicity
3MC syndrome 1, Ovarian cancer, Gastric cancer
Health Risk
RS139497497
Conflicting classifications of pathogenicity
3MC syndrome 1, MASP1-related disorder, 3MC syndrome 1
Health Risk
RS141985299
Conflicting classifications of pathogenicity
3MC syndrome 1, 3MC syndrome 1
Health Risk
RS145045341
Conflicting classifications of pathogenicity
3MC syndrome 1, MASP1-related disorder, Inborn genetic diseases
Health Risk
RS146265553
Conflicting classifications of pathogenicity
3MC syndrome 1, Inborn genetic diseases, 3MC syndrome 1
Health Risk
RS146714674
Conflicting classifications of pathogenicity
3MC syndrome 1, 3MC syndrome 1
Health Risk
RS16861801
Conflicting classifications of pathogenicity
3MC syndrome 1, MASP1-related disorder, 3MC syndrome 1
Health Risk
RS200641208
Conflicting classifications of pathogenicity
3MC syndrome 1, Inborn genetic diseases, 3MC syndrome 1
Health Risk
RS201025468
Conflicting classifications of pathogenicity
3MC syndrome 1, MASP1-related disorder, 3MC syndrome 1
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113938200 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, Monogenic hearing loss, 3MC syndrome 1 |
| RS116001173 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, Inborn genetic diseases, MASP1-related disorder |
| RS138234047 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, Inborn genetic diseases, 3MC syndrome 1 |
| RS138989954 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, Ovarian cancer, Gastric cancer |
| RS139497497 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, MASP1-related disorder, 3MC syndrome 1 |
| RS141985299 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, 3MC syndrome 1 |
| RS145045341 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, MASP1-related disorder, Inborn genetic diseases |
| RS146265553 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, Inborn genetic diseases, 3MC syndrome 1 |
| RS146714674 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, 3MC syndrome 1 |
| RS16861801 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, MASP1-related disorder, 3MC syndrome 1 |
| RS200641208 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, Inborn genetic diseases, 3MC syndrome 1 |
| RS201025468 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, MASP1-related disorder, 3MC syndrome 1 |
| RS28945070 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, MASP1-related disorder, 3MC syndrome 1 |
| RS34207306 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, 3MC syndrome 1 |
| RS377074720 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, 3MC syndrome 1 |
| RS753546269 | Health Risk | Conflicting classifications of pathogenicity | 3MC syndrome 1, 3MC syndrome 1 |
| RS1553852691 | Health Risk | Likely pathogenic | — |
| RS1713182815 | Health Risk | Likely pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS2474093039 | Health Risk | Likely pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS373254538 | Health Risk | Likely pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS748494624 | Health Risk | Likely pathogenic | — |
| RS749073173 | Health Risk | Likely pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS1553779765 | Health Risk | Pathogenic | — |
| RS1560255926 | Health Risk | Pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS1579537069 | Health Risk | Pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS1714622835 | Health Risk | Pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS2108551939 | Health Risk | Pathogenic | — |
| RS2474143770 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS387906752 | Health Risk | Pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS387906753 | Health Risk | Pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS387906754 | Health Risk | Pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS533236263 | Health Risk | Pathogenic | 3MC syndrome 1, 3MC syndrome 1 |
| RS549330397 | Health Risk | Pathogenic | — |
| RS763360042 | Health Risk | Pathogenic | 3MC syndrome 1, 3MC syndrome 1 |