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MGP003146

UniProt Annotations

Entry Information
Gene Nametolloid-like 1
Protein EntryTLL1_HUMAN
UniProt IDO43897
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43897-1; Sequence=Displayed; Name=2; IsoId=O43897-2; Sequence=VSP_017197, VSP_017198; Note=No experimental confirmation available.;
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000250}; Note=Binds 1 zinc ion per subunit. {ECO:0000250};
DiseaseAtrial septal defect 6 (ASD6) [MIM:613087]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. {ECO:0000269|PubMed:18830233}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionProtease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis.
SimilarityBelongs to the peptidase M12A family. {ECO:0000305}.
SimilarityContains 2 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
SimilarityContains 5 CUB domains. {ECO:0000255|PROSITE- ProRule:PRU00059}.
Subcellular LocationSecreted {ECO:0000305}.
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