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EGF-containing fibulin-like extracellular matrix protein 2; fibulin-4; FIBL-4; UPH1 protein (EFEMP2, FBLN4, UNQ200/PRO226)
Structure:
1) belongs to the fibulin family
2) contains 6 EGF-like domains
Compartment: secreted
Pathology:
- defects in EFEMP2 are a cause of autosomal recessive cutis laxa type 1
General
secreted protein
Properties
SIZE: MW = 49 kD
entity length = 443 aa
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-25}
EGF domain {36-81}
EGF domain {123-163}
MOTIF: cysteine residue {C127}
MODIFICATION: cysteine residue {C140}
cysteine residue {C134}
MODIFICATION: cysteine residue {C149}
cysteine residue {C140}
MODIFICATION: cysteine residue {C127}
cysteine residue {C149}
MODIFICATION: cysteine residue {C134}
cysteine residue {C151}
MODIFICATION: cysteine residue {C162}
cysteine residue {C162}
MODIFICATION: cysteine residue {C151}
EGF domain {164-202}
MOTIF: cysteine residue {C168}
MODIFICATION: cysteine residue {C177}
cysteine residue {C173}
MODIFICATION: cysteine residue {C186}
cysteine residue {C177}
MODIFICATION: cysteine residue {C168}
cysteine residue {C186}
MODIFICATION: cysteine residue {C173}
cysteine residue {C188}
MODIFICATION: cysteine residue {C201}
N-glycosylation site {N198}
cysteine residue {C201}
MODIFICATION: cysteine residue {C188}
EGF domain {203-242}
MOTIF: cysteine residue {C207}
MODIFICATION: cysteine residue {C217}
cysteine residue {C213}
MODIFICATION: cysteine residue {C226}
cysteine residue {C217}
MODIFICATION: cysteine residue {C207}
cysteine residue {C226}
MODIFICATION: cysteine residue {C213}
cysteine residue {C228}
MODIFICATION: cysteine residue {C241}
cysteine residue {C241}
MODIFICATION: cysteine residue {C228}
EGF domain {243-282}
MOTIF: cysteine residue {C247}
MODIFICATION: cysteine residue {C258}
cysteine residue {C254}
MODIFICATION: cysteine residue {C267}
cysteine residue {C258}
MODIFICATION: cysteine residue {C247}
cysteine residue {C267}
MODIFICATION: cysteine residue {C254}
cysteine residue {C269}
MODIFICATION: cysteine residue {C281}
cysteine residue {C281}
MODIFICATION: cysteine residue {C269}
EGF domain {283-328}
MOTIF: cysteine residue {C287}
MODIFICATION: cysteine residue {C300}
cysteine residue {C294}
MODIFICATION: cysteine residue {C309}
cysteine residue {C300}
MODIFICATION: cysteine residue {C287}
cysteine residue {C309}
MODIFICATION: cysteine residue {C294}
cysteine residue {C315}
MODIFICATION: cysteine residue {C327}
cysteine residue {C327}
MODIFICATION: cysteine residue {C315}
N-glycosylation site {N394}
Database Correlations
OMIM correlations
MORBIDMAP 604633
UniProt O95967
Pfam PF07645
References
UniProt :accession O95967