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O00187 Proteins CUB domain Repeats
Uniprot ID:O00187
Protein name: Mannan-binding lectin serine protease 2
Gene : MASP2
Protein Family:Peptidase S1 family
Squence Length : 686
Sequnce
>O00187 687 MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQPCPYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPACSIVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPVCGLSARTTGGRIYGGQKAKPGDFPWQVLILGGTTAAGALLYDNWVLTAAHAVYEQKHDASALDIRMGTLKRLSPHYTQAWSEAVFIHEGYTHDAGFDNDIALIKLNNKVVINSNITPICLPRKEAESFMRTDDIGTASGWGLTQRGFLARNLMYVDIPIVDHQKCTAAYEKPPYPRGSVTANMLCAGLESGGKDSCRGDSGGALVFLDSETERWFVGGIVSWGSMNCGEAGQYGVYTKVINYIPWIENIISDF
Domains
DOMAIN 16 137 CUB 1 DOMAIN 138 181 EGF-like calcium-binding DOMAIN 184 296 CUB 2 DOMAIN 298 363 Sushi 1 DOMAIN 364 432 Sushi 2 DOMAIN 445 684 Peptidase S1
CUB sequence regions
16 - 137 LGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDI 184 - 296 GQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQ
Function
"Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase"
Active Site
ACT_SITE 483 483 Charge relay system. ACT_SITE 532 532 Charge relay system. ACT_SITE 633 633 Charge relay system
Mutation
"74 74 Y->A: Strongly decreases affinity for MBL2 121 121 Y->A: Strongly decreases affinity for MBL2, but not for FCN2 124 124 E->A: Decreases affinity for MBL2 444 444 R->Q: Abolishes autocatalytic cleavage"
Disease
"DISEASE: MASP2 deficiency (MASPD) [MIM:613791]: A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease Note=The disease is caused by mutations affecting the gene represented in this entry"