ID:MASP1_HUMAN DESCRIPTION: RecName: Full=Mannan-binding lectin serine protease 1; EC=3.4.21.-; AltName: Full=Complement factor MASP-3; AltName: Full=Complement-activating component of Ra-reactive factor; AltName: Full=Mannose-binding lectin-associated serine protease 1; Short=MASP-1; AltName: Full=Mannose-binding protein-associated serine protease; AltName: Full=Ra-reactive factor serine protease p100; Short=RaRF; AltName: Full=Serine protease 5; Contains: RecName: Full=Mannan-binding lectin serine protease 1 heavy chain; Contains: RecName: Full=Mannan-binding lectin serine protease 1 light chain; Flags: Precursor; 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. ENZYME REGULATION: Inhibited by SERPING1 and A2M. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.10 mM for Ac-Gly-Lys-OMe (at 30 degrees Celsius); KM=310 uM for Bz-Arg-OEt (at 30 degrees Celsius); KM=4.8 uM for C2 (at 37 degrees Celsius); SUBUNIT: Homodimer. Interacts with the oligomeric lectins MBL2, FCN2 and FCN3; triggers the lectin pathway of complement through activation of C3. Interacts with SERPING1. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Protein of the plasma which is primarily expressed by liver. PTM: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains (By similarity). PTM: N-glycosylated. Some N-linked glycan are of the complex-type (By similarity). PTM: Autoproteolytic 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. DISEASE: Defects in MASP1 are the cause of 3MC syndrome type 1 (3MC1) [MIM:257920]. 3MC1 is 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. SIMILARITY: Belongs to the peptidase S1 family. SIMILARITY: Contains 2 CUB domains. SIMILARITY: Contains 1 EGF-like domain. SIMILARITY: Contains 1 peptidase S1 domain. SIMILARITY: Contains 2 Sushi (CCP/SCR) domains. SEQUENCE CAUTION: Sequence=AAH39724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P48740
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
D17525 - Homo sapiens mRNA for precursor of P100 serine protease of Ra-reactive factor, complete cds. JD061617 - Sequence 42641 from Patent EP1572962. JD239643 - Sequence 220667 from Patent EP1572962. JD509414 - Sequence 490438 from Patent EP1572962. JD563728 - Sequence 544752 from Patent EP1572962. JD252548 - Sequence 233572 from Patent EP1572962. JD473359 - Sequence 454383 from Patent EP1572962. JD287203 - Sequence 268227 from Patent EP1572962. JD084460 - Sequence 65484 from Patent EP1572962. JD337925 - Sequence 318949 from Patent EP1572962. JD354310 - Sequence 335334 from Patent EP1572962. JD305339 - Sequence 286363 from Patent EP1572962. JD237633 - Sequence 218657 from Patent EP1572962. JD120926 - Sequence 101950 from Patent EP1572962. JD423802 - Sequence 404826 from Patent EP1572962. JD236997 - Sequence 218021 from Patent EP1572962. JD232894 - Sequence 213918 from Patent EP1572962. JD184887 - Sequence 165911 from Patent EP1572962. JD121004 - Sequence 102028 from Patent EP1572962. JD272648 - Sequence 253672 from Patent EP1572962. JD132003 - Sequence 113027 from Patent EP1572962. JD398447 - Sequence 379471 from Patent EP1572962. JD511006 - Sequence 492030 from Patent EP1572962. JD307785 - Sequence 288809 from Patent EP1572962. JD076730 - Sequence 57754 from Patent EP1572962. JD146029 - Sequence 127053 from Patent EP1572962. D28593 - Homo sapiens MASP mRNA for MBP associated serine protease, complete cds. JD412300 - Sequence 393324 from Patent EP1572962. JD182810 - Sequence 163834 from Patent EP1572962. JD544897 - Sequence 525921 from Patent EP1572962. JD516142 - Sequence 497166 from Patent EP1572962. JD288254 - Sequence 269278 from Patent EP1572962. JD221498 - Sequence 202522 from Patent EP1572962. JD081909 - Sequence 62933 from Patent EP1572962. JD247721 - Sequence 228745 from Patent EP1572962. JD365698 - Sequence 346722 from Patent EP1572962. JD507428 - Sequence 488452 from Patent EP1572962. JD515660 - Sequence 496684 from Patent EP1572962. BX641029 - Homo sapiens mRNA; cDNA DKFZp686M0562 (from clone DKFZp686M0562). AF284421 - Homo sapiens complement factor MASP-3 mRNA, complete cds. BX647237 - Homo sapiens mRNA; cDNA DKFZp686O1553 (from clone DKFZp686O1553). AK291157 - Homo sapiens cDNA FLJ75203 complete cds, highly similar to Homo sapiens mannan-binding lectin serine protease 1 (C4/C2activating component of Ra-reactive factor) (MASP1), transcriptvariant 2, mRNA. AK291686 - Homo sapiens cDNA FLJ78716 complete cds, highly similar to Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 2, mRNA. AK304334 - Homo sapiens cDNA FLJ53279 complete cds, highly similar to Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 2, mRNA. BC106945 - Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor), mRNA (cDNA clone MGC:126283 IMAGE:40034551), complete cds. BC106946 - Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor), mRNA (cDNA clone MGC:126284 IMAGE:40034552), complete cds. KJ897392 - Synthetic construct Homo sapiens clone ccsbBroadEn_06786 MASP1 gene, encodes complete protein. AB590956 - Synthetic construct DNA, clone: pFN21AE2070, Homo sapiens MASP1 gene for mannan-binding lectin serine peptidase 1, without stop codon, in Flexi system. BC039724 - Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor), mRNA (cDNA clone IMAGE:5243260), partial cds. CR749615 - Homo sapiens mRNA; cDNA DKFZp686I01199 (from clone DKFZp686I01199). AK129893 - Homo sapiens cDNA FLJ26383 fis, clone HRT06776, highly similar to Complement-activating component of Ra-reactive factor precursor (EC 3.4.21.-). AK300663 - Homo sapiens cDNA FLJ55004 complete cds, highly similar to Complement-activating component of Ra-reactive factor precursor (EC 3.4.21.-). JD361627 - Sequence 342651 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_lectinPathway - Lectin Induced Complement Pathway h_compPathway - Complement Pathway
Reactome (by CSHL, EBI, and GO)
Protein P48740 (Reactome details) participates in the following event(s):
R-HSA-2203480 COLEC11 binds ligands R-HSA-166721 MBL binds to repetitive carbohydrate structures on the surfaces of viruses, bacteria, fungi, and protozoa R-HSA-2855054 Ficolin-2 binds to molecular patterns on the target cell surface R-HSA-2855125 Ficolin-1 binds to molecular patterns on the target cell surface R-HSA-2855077 Ficolin-3 binds to molecular patterns on the target cell surface R-HSA-8852509 CL-LK binds carbohydrates on target cell surface R-HSA-166726 Activation of MASPs R-HSA-166753 Conversion of C4 into C4a and C4b R-HSA-166792 Conversion of C2 into C2a and C2b R-HSA-3000480 Scavenging by Class A Receptors R-HSA-166662 Lectin pathway of complement activation R-HSA-2855086 Ficolins bind to repetitive carbohydrate structures on the target cell surface R-HSA-2173782 Binding and Uptake of Ligands by Scavenger Receptors R-HSA-166786 Creation of C4 and C2 activators R-HSA-5653656 Vesicle-mediated transport R-HSA-166663 Initial triggering of complement R-HSA-166658 Complement cascade R-HSA-168249 Innate Immune System R-HSA-168256 Immune System
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
