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hemicentin-1 (fibulin-6, FIBL-6, HMCN1 FIBL6)
Structure:
- contains 7 EGF-like domains
- contains 44 Ig-like C2-type domains (immunoglobulin-like)
- contains 1 nidogen G2 beta-barrel domain
- contains 6 TSP type-1 domains
- contains 1 VWFA domain
Alternative splicing: named isoforms=3
Expression:
- isoforms 1 & 2 are expressed in skin fibroblasts & retinal pigment epithelium cells
Pathology:
- defects in HMCN1 are the cause of age-related macular degeneration 1
General
glycoprotein
Properties
SIZE: MW = 613 kD
entity length = 5635 aa
MOTIF: signal sequence {1-21}
VWFA domain {41-216}
N-glycosylation site {N349}
N-glycosylation site {N390}
immunoglobulin superfamily domain {431-4527} (44)
MOTIF: cysteine residue {C451}
MODIFICATION: cysteine residue {C499}
cysteine residue {C499}
MODIFICATION: cysteine residue {C451}
TSP type-1 {4529-4869} (6)
MOTIF: cysteine residue {C4541}
MODIFICATION: cysteine residue {C4578}
cysteine residue {C4545}
MODIFICATION: cysteine residue {C4583}
cysteine residue {C4556}
MODIFICATION: cysteine residue {C4568}
cysteine residue {C4568}
MODIFICATION: cysteine residue {C4556}
cysteine residue {C4578}
MODIFICATION: cysteine residue {C4541}
cysteine residue {C4583}
MODIFICATION: cysteine residue {C4545}
Nidogen G2 beta-barrel {4871-5093}
MOTIF: N-glycosylation site {N4894}
N-glycosylation site {N5040}
EGF domain {5107-5471} (7)
MOTIF: cysteine residue {C5111}
MODIFICATION: cysteine residue {C5121}
cysteine residue {C5117}
MODIFICATION: cysteine residue {C5130}
cysteine residue {C5121}
MODIFICATION: cysteine residue {C5111}
cysteine residue {C5130}
MODIFICATION: cysteine residue {C5117}
cysteine residue {C5132}
MODIFICATION: cysteine residue {C5145}
cysteine residue {C5145}
MODIFICATION: cysteine residue {C5132}
N-glycosylation site {N5615}
Database Correlations
OMIM correlations
MORBIDMAP 608548
UniProt Q96RW7
PFAM correlations
References
UniProt :accession Q96RW7