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P48740 Proteins CUB domain Repeats
Uniprot ID:P48740
Protein name: Mannan-binding lectin serine protease 1
Gene : MASP1 CRARF CRARF1 PRSS5
Protein Family:Peptidase S1 family
Squence Length : 699
Sequnce
>P48740 700 MRWLLLYYALCFSLSKASAHTVELNNMFGQIQSPGYPDSYPSDSEVTWNITVPDGFRIKLYFMHFNLESSYLCEYDYVKVETEDQVLATFCGRETTDTEQTPGQEVVLSPGSFMSITFRSDFSNEERFTGFDAHYMAVDVDECKEREDEELSCDHYCHNYIGGYYCSCRFGYILHTDNRTCRVECSDNLFTQRTGVITSPDFPNPYPKSSECLYTIELEEGFMVNLQFEDIFDIEDHPEVPCPYDYIKIKVGPKVLGPFCGEKAPEPISTQSHSVLILFHSDNSGENRGWRLSYRAAGNECPELQPPVHGKIEPSQAKYFFKDQVLVSCDTGYKVLKDNVEMDTFQIECLKDGTWSNKIPTCKIVDCRAPGELEHGLITFSTRNNLTTYKSEIKYSCQEPYYKMLNNNTGIYTCSAQGVWMNKVLGRSLPTCLPVCGLPKFSRKLMARIFNGRPAQKGTTPWIAMLSHLNGQPFCGGSLLGSSWIVTAAHCLHQSLDPEDPTLRDSDLLSPSDFKIILGKHWRLRSDENEQHLGVKHTTLHPQYDPNTFENDVALVELLESPVLNAFVMPICLPEGPQQEGAMVIVSGWGKQFLQRFPETLMEIEIPIVDHSTCQKAYAPLKKKVTRDMICAGEKEGGKDACAGDSGGPMVTLNRERGQWYLVGTVSWGDDCGKKDRYGVYSYIHHNKDWIQRVTGVRN
Domains
DOMAIN 20 138 CUB 1 DOMAIN 139 182 EGF-like calcium-binding DOMAIN 185 297 CUB 2 DOMAIN 299 364 Sushi 1 DOMAIN 365 434 Sushi 2 DOMAIN 449 696 Peptidase S1
CUB sequence regions
20 - 138 VELNNMFGQIQSPGYPDSYPSDSEVTWNITVPDGFRIKLYFMHFNLESSYLCEYDYVKVETEDQVLATFCGRETTDTEQTPGQEVVLSPGSFMSITFRSDFSNEERFTGFDAHYMAVDV 185 - 297 DNLFTQRTGVITSPDFPNPYPKSSECLYTIELEEGFMVNLQFEDIFDIEDHPEVPCPYDYIKIKVGPKVLGPFCGEKAPEPISTQSHSVLILFHSDNSGENRGWRLSYRAAGN
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. Also plays a role in development (PubMed:21258343)"
Active Site
ACT_SITE 490 490 Charge relay system. ACT_SITE 552 552 Charge relay system. ACT_SITE 646 646 Charge relay system
Mutation
"68 68 E->A,Q: Partial loss of interaction with FCN2, FCN3 and MBL2 77 77 Y->A: Partial loss of interaction with FCN2, FCN3 and MBL2 99 99 E->A: Partial loss of interaction with FCN2, FCN3 and MBL2 121 121 D->A,N: Loss of interaction with FNC2 and FCN3 and partial loss of interaction with MBL2 122 122 F->A: Partial loss of interaction with FCN2, FCN3 and MBL2 123 123 S->A: Partial loss of interaction with FCN2, FCN3 and MBL2 125 125 E->A: Partial loss of interaction with FCN2, FCN3 and MBL2 237 237 H->A: Loss of interaction with FCN2, FCN3 and MBL2 239 239 E->A: Partial loss of interaction with FCN2, FCN3 and MBL2 244 244 Y->A: Loss of interaction with FCN2, FCN3 and MBL2 262 262 E->A: Partial loss of interaction with FCN2, FCN3 and MBL2 274 274 S->A: Partial loss of interaction with FCN2 and FCN3 283 283 N->A: Partial loss of interaction with FCN2, FCN3 and MBL2 286 286 E->A: Partial loss of interaction with FCN2, FCN3 and MBL2 646 646 S->A: No autoproteolytic processing"
Disease
"DISEASE: 3MC syndrome 1 (3MC1) [MIM:257920]: A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate 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"