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Results for the Protein: P01024
119370332
718
C3

CO3_HUMAN RecName: Full=Complement C3; AltName: Full=C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1; Contains: RecName: Full=Complement C3 beta chain; Contains: RecName: Full=Complement C3 alpha chain; Contains: RecName: Full=C3a anaphylatoxin; Contains: RecName: Full=Acylation stimulating protein; Short=ASP; AltName: Full=C3adesArg; Contains: RecName: Full=Complement C3b alpha' chain; Contains: RecName: Full=Complement C3c alpha' chain fragment 1; Contains: RecName: Full=Complement C3dg fragment; Contains: RecName: Full=Complement C3g fragment; Contains: RecName: Full=Complement C3d fragment; Contains: RecName: Full=Complement C3f fragment; Contains: RecName: Full=Complement C3c alpha' chain fragment 2; Flags: Precursor

Known Diseases associated with this Protein:
  COMPLEMENT COMPONENT 3 DEFICIENCY (C3D)
  HEMOLYTIC UREMIC SYNDROME ATYPICAL 5 (AHUS5)
  HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
  MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
17
11
6
3
19
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

MG1 - pfam11974
A2M_N - pfam01835
A2M_N_2 - pfam07703
ANATO - cd00017
ANATO - smart00104
ANATO - pfam01821
A2M - pfam00207
ISOPREN_C2_like - cd00688
complement_C3_C4_C5 - cd02896
A2M_like - cd02891
A2M_2 - cd02897
Thiol-ester_cl - pfam10569
A2M_comp - pfam07678
A2M_recep - pfam07677
NTR_complement_C5 - cd03582
NTR_complement_C4 - cd03584
NTR_complement_C3 - cd03583
NTR_complement_C345C - cd03574
C345C - smart00643
NTR - pfam01759


Swiss-Prot Protein: P01024
Identical to: NP_000055
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ANATOcd000171.8e-34678747
ISOPREN_C2_likecd006887.3e-749961282
A2M_likecd028917.3e-1159961282
complement_C3_C4_C5cd028962e-1669961282
A2M_2cd028972.5e-4810001282
NTR_complement_C5cd035822.8e-0515061661
NTR_complement_C4cd035846.5e-1315111661
NTR_complement_C3cd035831.1e-10315131661
NTR_complement_C345Ccd035744.8e-6315181661
A2M_Npfam018352.7e-31129224
ANATOpfam018211.9e-16693728
A2Mpfam002079.3e-46770866
NTRpfam017592.8e-4315341644
MG1pfam119746e-1514115
A2M_N_2pfam077037.2e-37456605
ANATOsmart001048.5e-16693728
Thiol-ester_clpfam105699.4e-1610001029
A2M_comppfam076787.2e-7210511284
A2M_receppfam076774.7e-5013981493
C345Csmart006432.3e-5015331644

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063216Diseasep.ALA1094VALHemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-ProtVAR_001986Diseasep.ARG1320GLNComplement component 3 deficiency (C3D)
Swiss-ProtVAR_063213Diseasep.ARG592GLNHemolytic uremic syndrome atypical 5 (AHUS5)
dbSNPrs2230199 Polymorphismp.ARG102GLYN/A
Swiss-ProtVAR_063655Diseasep.ARG1042LEUHemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-ProtVAR_019206Polymorphismp.ARG863LYSN/A
Swiss-ProtVAR_063214Diseasep.ARG592TRPHemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-ProtVAR_063215Diseasep.ARG735TRPHemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-ProtVAR_063217Diseasep.ASP1115ASNHemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-ProtVAR_022761Polymorphismp.ASP1216ASNN/A
Swiss-ProtVAR_001985Diseasep.ASP549ASNComplement component 3 deficiency (C3D)
Swiss-ProtVAR_063218Diseasep.CYS1158TRPHemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-ProtVAR_029792Polymorphismp.GLN1521ARGN/A
Swiss-ProtVAR_063219Diseasep.GLN1161LYSHemolytic uremic syndrome atypical 5 (AHUS5)
dbSNPrs11569422 Polymorphismp.GLU469ASPN/A
Swiss-ProtVAR_019207Polymorphismp.GLY1224ASPN/A
Swiss-ProtVAR_029793Polymorphismp.HIS1601ASNN/A
Swiss-ProtVAR_063220Diseasep.HIS1464ASPHemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-ProtVAR_019208Polymorphismp.ILE1367THRN/A
Swiss-ProtVAR_063654Diseasep.PHE603VALHemolytic uremic syndrome atypical 5 (AHUS5)
dbSNPrs1047286 Polymorphismp.PRO314LEUN/A
Swiss-ProtVAR_029326Polymorphismp.SER1619ARGN/A
OMIM120700.0006 Diseasep.ALA1072VALHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
OMIM120700.0005 Diseasep.ARG570GLNHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
OMIM120700.0001 Polymorphismp.ARG102GLYMACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO||C3S/C3F POLYMORPHISM
OMIM120700.0007 Diseasep.ASP1093ASNHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
OMIM120700.0010 Diseasep.LYS155GLNMACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
OMIM120700.0008 Diseasep.TYR832TERHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5



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