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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