InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TLL1

Summary

InnateDB Protein

IDBP-479647.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TLL1

Protein Name

tolloid-like 1

Synonyms

ASD6; TLL;

Species

Homo sapiens

Ensembl Protein

ENSP00000422937

InnateDB Gene

IDBG-43675 (TLL1)

Protein Structure

UniProt Annotation

Function

Protease 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.

Subcellular Localization

Secreted {ECO:0000305}.

Disease Associations

Atrial 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:0000269PubMed:18830233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004222	metalloendopeptidase activity
GO:0005509	calcium ion binding
GO:0008237	metallopeptidase activity
GO:0008270	zinc ion binding

Biological Process

GO:0001501	skeletal system development
GO:0006508	proteolysis
GO:0022617	extracellular matrix disassembly
GO:0030154	cell differentiation
GO:0030198	extracellular matrix organization