MASP1 Antibody – Rabbit Polyclonal

Function: Functions in the lectin pathway of complement, which performs a key role in innate immunity by recognizing pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered upon binding of mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the associated proteases MASP1 and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly activate C3 the key component of complement reaction. Isoform 2 may have an inhibitory effect on the activation of the lectin pathway of complement or may cleave IGFBP5. Ref.5 Ref.24

Enzyme regulation: Inhibited by SERPING1 and A2M. Ref.17 Ref.20

Subunit structure: Homodimer. Interacts with the oligomeric lectins MBL2, FCN2 and FCN3; triggers the lectin pathway of complement through activation of C3. Interacts with SERPING1. Ref.11 Ref.13 Ref.14 Ref.15 Ref.16 Ref.18 Ref.19 Ref.25

Subcellular location: Secreted Ref.5.

Tissue specificity: Protein of the plasma which is primarily expressed by liver. Ref.1 Ref.2 Ref.5 Ref.12

Post-translational modification: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains

By similarity.N-glycosylated. Some N-linked glycan are of the complex-type

By similarity. Ref.11 Ref.25Autoproteolytic processing of the proenzyme produces the active enzyme composed on the heavy and the light chain held together by a disulfide bond. Isoform 1 but not isoform 2 is activated through autoproteolytic processing.

Involvement in disease: 3MC syndrome 1 (3MC1) [MIM:257920]: A disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.26

Sequence similarities: Belongs to the peptidase S1 family.Contains 2 CUB domains.Contains 1 EGF-like domain.Contains 1 peptidase S1 domain.Contains 2 Sushi (CCP/SCR) domains.

Biophysicochemical propertiesKinetic parameters:KM=0.10 mM for Ac-Gly-Lys-OMe (at 30 degrees Celsius) Ref.17 Ref.20KM=310 µM for Bz-Arg-OEt (at 30 degrees Celsius)KM=4.8 µM for C2 (at 37 degrees Celsius)

Sequence caution: The sequence AAH39724.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.