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Results for the Protein: P48740
218512135

MASP1_HUMAN RecName: Full=Mannan-binding lectin serine protease 1; 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

Known Diseases associated with this Protein:
  3MC SYNDROME 1
5
3
5
1
2
Tips:
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Default View:

CUB - cd00041
CUB - pfam00431
CUB - smart00042
EGF_CA - smart00179
EGF_CA - cd00054
EGF - smart00181
EGF - cd00053
CCP - smart00032
Sushi - pfam00084
CCP - cd00033
Tryp_SPc - smart00020
Tryp_SPc - cd00190
Trypsin - pfam00089


Swiss-Prot Protein: P48740
Identical to: NP_001870
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CUBcd000419.5e-3620137
EGF_CAcd000546.6e-09139182
EGFcd000535.9e-05142182
CUBcd000419.7e-41185296
CCPcd000335.1e-16301363
CCPcd000333.1e-12367433
Tryp_SPccd001901.6e-100449694
CUBpfam004315.8e-1820135
CUBpfam004318.4e-54185294
Sushipfam000841.2e-08301362
Sushipfam000846e-05367432
Trypsinpfam000891.2e-91449691
CUBsmart000423.7e-3729135
EGF_CAsmart001794.9e-10139182
EGFsmart001817.1e-05142182
CUBsmart000423.8e-39195294
CCPsmart000322.6e-15301362
CCPsmart000326.5e-14367432
Tryp_SPcsmart000206.1e-102448691

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_051833Polymorphismp.GLY679ARGN/A
Swiss-ProtVAR_051831Polymorphismp.THR21ILEN/A
dbSNPrs13322090 Polymorphismp.VAL568ALAN/A
OMIM600521.0002 Diseasep.CYS1ARG3MC SYNDROME 1
OMIM600521.0004 Diseasep.GLY1ARG3MC SYNDROME 1
OMIM600521.0003 Diseasep.GLY1GLU3MC SYNDROME 1
OMIM600521.0001 Diseasep.HIS1TYR3MC SYNDROME 1
OMIM600521.0005 Diseasep.TRP290TER3MC SYNDROME 1



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