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membrane frizzled-related protein (MFRP)
Function:
- role in eye development (putative)
Structure:
- contains 2 CUB domains.
- contains 1 FZ domain (frizzled domain)
- contains 2 LDL-receptor class A domains
Compartment: membrane
Expression:
- specifically expressed in brain, expressed in fetal brain
- expressed in medulla oblongata > hippocampus, corpus callosum
- expressed in keratinocytes
Pathology:
- defects in MFRP are the cause of nanophthalmos 2
General
glycoprotein
membrane protein
Properties
SIZE: MW = 62 kD
entity length = 579 aa
COMPARTMENT: cellular membrane
MOTIF: transmembrane domain {70-90}
threonine-rich region {111-121}
MOTIF: threonine residue (SEVERAL)
CUB domain {144-253}
MOTIF: cysteine residue {C144}
MODIFICATION: cysteine residue {C170}
cysteine residue {C170}
MODIFICATION: cysteine residue {C144}
cysteine residue {C197}
MODIFICATION: cysteine residue {C216}
cysteine residue {C216}
MODIFICATION: cysteine residue {C197}
N-glycosylation site {N227}
LDL-receptor class A {259-295}
MOTIF: cysteine residue {C260}
MODIFICATION: cysteine residue {C272}
cysteine residue {C267}
MODIFICATION: cysteine residue {C285}
cysteine residue {C272}
MODIFICATION: cysteine residue {C260}
cysteine residue {C279}
MODIFICATION: cysteine residue {C294}
cysteine residue {C285}
MODIFICATION: cysteine residue {C267}
cysteine residue {C294}
MODIFICATION: cysteine residue {C279}
CUB domain {301-414}
MOTIF: cysteine residue {C301}
MODIFICATION: cysteine residue {C327}
cysteine residue {C327}
MODIFICATION: cysteine residue {C301}
cysteine residue {C354}
MODIFICATION: cysteine residue {C377}
cysteine residue {C377}
MODIFICATION: cysteine residue {C354}
N-glycosylation site {N415}
LDL-receptor class A {420-455}
MOTIF: cysteine residue {C421}
MODIFICATION: cysteine residue {C433}
cysteine residue {C428}
MODIFICATION: cysteine residue {C446}
cysteine residue {C433}
MODIFICATION: cysteine residue {C421}
cysteine residue {C440}
MODIFICATION: cysteine residue {C454}
cysteine residue {C446}
MODIFICATION: cysteine residue {C428}
cysteine residue {C454}
MODIFICATION: cysteine residue {C440}
frizzled domain {461-579}
MOTIF: cysteine residue {C466}
MODIFICATION: cysteine residue {C528}
cysteine residue {C474}
MODIFICATION: cysteine residue {C521}
cysteine residue {C512}
MODIFICATION: cysteine residue {C549}
cysteine residue {C521}
MODIFICATION: cysteine residue {C474}
cysteine residue {C528}
MODIFICATION: cysteine residue {C466}
cysteine residue {C538}
MODIFICATION: cysteine residue {C576}
cysteine residue {C542}
MODIFICATION: cysteine residue {C564}
cysteine residue {C549}
MODIFICATION: cysteine residue {C512}
cysteine residue {C564}
MODIFICATION: cysteine residue {C542}
cysteine residue {C576}
MODIFICATION: cysteine residue {C538}
Database Correlations
OMIM 606227
MORBIDMAP 606227
UniProt Q9BY79
PFAM correlations
References
UniProt :accession Q9BY79