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tolloid-like protein 1 (TLL1, TLL)
Function:
1) protease, processes procollagen C-propeptides
- chordin, pro-biglycan and pro-lysyl oxidase
2) embryonic development
3) predominant protease influencing dorsal-ventral patterning & skeletogenesis in development
Cofactor: binds 1 Zn+2 per subunit
Structure:
- belongs to the peptidase M12A family
- contains 5 CUB domains
- contains 2 EGF-like domains
Compartment: secreted (probable)
Alternative splicing: named isoforms=2
Pathology:
- defects in TLL1 are the cause of atrial septal defect type 6
General
glycoprotein
metalloprotease
Properties
SIZE: MW = 115 kD
entity length = 1013 aa
MOTIF: signal sequence {1-30}
Metalloprotease {148-348}
MOTIF: N-glycosylation site {N169}
Zn+2-binding site
SITE: 240-240
glutamate residue {E241}
Zn+2-binding site
SITE: 244-244
Zn+2-binding site
SITE: 250-250
CUB domain {349-461}
MOTIF: cysteine residue {C349}
MODIFICATION: cysteine residue {C375}
N-glycosylation site {N359}
cysteine residue {C375}
MODIFICATION: cysteine residue {C349}
N-glycosylation site {N390}
cysteine residue {C402}
MODIFICATION: cysteine residue {C424}
cysteine residue {C424}
MODIFICATION: cysteine residue {C402}
CUB domain {462-574}
MOTIF: cysteine residue {C462}
MODIFICATION: cysteine residue {C488}
cysteine residue {C488}
MODIFICATION: cysteine residue {C462}
cysteine residue {C515}
MODIFICATION: cysteine residue {C537}
cysteine residue {C537}
MODIFICATION: cysteine residue {C515}
EGF domain {574-615}
MOTIF: cysteine residue {C578}
MODIFICATION: cysteine residue {C590}
cysteine residue {C586}
MODIFICATION: cysteine residue {C599}
cysteine residue {C590}
MODIFICATION: cysteine residue {C578}
cysteine residue {C599}
MODIFICATION: cysteine residue {C586}
cysteine residue {C601}
MODIFICATION: cysteine residue {C614}
cysteine residue {C614}
MODIFICATION: cysteine residue {C601}
CUB domain {618-730}
MOTIF: cysteine residue {C618}
MODIFICATION: cysteine residue {C644}
N-glycosylation site {N626}
cysteine residue {C644}
MODIFICATION: cysteine residue {C618}
cysteine residue {C671}
MODIFICATION: cysteine residue {C693}
cysteine residue {C693}
MODIFICATION: cysteine residue {C671}
EGF domain {730-770}
MOTIF: cysteine residue {C734}
MODIFICATION: cysteine residue {C745}
cysteine residue {C741}
MODIFICATION: cysteine residue {C754}
cysteine residue {C745}
MODIFICATION: cysteine residue {C734}
cysteine residue {C754}
MODIFICATION: cysteine residue {C741}
cysteine residue {C756}
MODIFICATION: cysteine residue {C769}
cysteine residue {C769}
MODIFICATION: cysteine residue {C756}
CUB domain {774-886}
MOTIF: cysteine residue {C774}
MODIFICATION: cysteine residue {C800}
cysteine residue {C800}
MODIFICATION: cysteine residue {C774}
cysteine residue {C827}
MODIFICATION: cysteine residue {C849}
cysteine residue {C849}
MODIFICATION: cysteine residue {C827}
CUB domain {887-1003}
MOTIF: cysteine residue {C887}
MODIFICATION: cysteine residue {C917}
cysteine residue {C917}
MODIFICATION: cysteine residue {C887}
cysteine residue {C944}
MODIFICATION: cysteine residue {C966}
cysteine residue {C966}
MODIFICATION: cysteine residue {C944}
Database Correlations
OMIM correlations
UniProt O43897
PFAM correlations
Entrez Gene 7092
Kegg hsa:7092
References
UniProt :accession O43897