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transforming growth factor-beta-induced protein Ig-H3; beta Ig-H3; kerato-epithelin; RGD-containing collagen-associated protein; RGD-CAP (TGFBI, BIGH3)
Function:
- adhesion protein
- binds to collagen type 1, collagen type 2, & collagen type 4
- may play a role in cell-collagen interactions
- in cartilage, may be involved in endochondral bone formation
- gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation
- these residues are essential for the binding of Ca+2 (putative)
Structure:
- contains 1 EMI domain
- contains 4 FAS1 domains
Compartment:
- secreted, extracellular space, extracellular matrix
- may be associated both with microfibrils & with the cell surface
Expression:
- highly expressed in the corneal epithelium
- induced by TGFB1
Pathology:
- defects in TGFBI are the cause of:
a) epithelial basement membrane corneal dystrophy
b) corneal dystrophy Groenouw type 1
c) corneal dystrophy lattice type 1
d) corneal dystrophy of Bowman layer type 1
e) lattice corneal dystrophy type 3A
f) Avellino corneal dystrophy
- defects in TGFBI are a cause of corneal dystrophy of Bowman layer type 2
Related
transforming growth factor [TGF]-beta
General
secreted protein
Properties
SIZE: entity length = 683 aa
MW = 75 kD
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-23}
EMI {45-99}
MOTIF: cysteine residue {C49}
MODIFICATION: cysteine residue {C85}
cysteine residue {C65}
MODIFICATION: cysteine residue {C74}
cysteine residue {C74}
MODIFICATION: cysteine residue {C65}
cysteine residue {C84}
MODIFICATION: cysteine residue {C97}
cysteine residue {C85}
MODIFICATION: cysteine residue {C49}
cysteine residue {C97}
MODIFICATION: cysteine residue {C84}
S1 domain {103-236}
S1 domain {240-371}
S1 domain {375-498}
S1 domain {502-632}
Cell attachment site {642-644}
Database Correlations
OMIM correlations
MORBIDMAP 601692
UniProt Q15582
Pfam PF02469
Entrez Gene 7045
Kegg hsa:7045
References
- UniProt :accession Q15582
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TGFBI
- NIEHS-SNPs
http://egp.gs.washington.edu/data/tgfbi/