Entrez gene ID | | 5648 |
Official gene symbol | | MASP1 |
Full name | | mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) |
Aliases | | ,CRARF,CRARF1,DKFZp686I01199,FLJ26383,MAP1,MASP,MASP3,MGC126283,MGC126284,PRSS5,RaRF, |
Gene summary | | 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. |
Location | | Chromosome: 3 Locus: 3q27-q28 |
Gene position | | 187009810 - 186933873 Map Viewer |
Gene orientation | | minus |
Gene size | | 75938 bp |
Gene sequence |
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OMIM ID | | 600521 |
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