NP_001191689.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
44,186 Da
NCBI Official Full Name
tolloid-like protein 1 isoform 2
NCBI Official Synonym Full Names
tolloid-like 1
NCBI Official Synonym Symbols
NCBI Protein Information
tolloid-like protein 1
UniProt Protein Name
Tolloid-like protein 1
UniProt Synonym Gene Names
UniProt Entry Name
TLL1_HUMAN
NCBI Summary for TLL1
This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
UniProt Comments for TLL1
TLL1: 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. Defects in TLL1 are the cause of atrial septal defect type 6 (ASD6). 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. Belongs to the peptidase M12A family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; EC 3.4.24.-; Protease; Secreted
Chromosomal Location of Human Ortholog: 4q32-q33
Cellular Component: extracellular region
Molecular Function: collagen binding; zinc ion binding; metalloendopeptidase activity; calcium ion binding
Biological Process: extracellular matrix disassembly; extracellular matrix organization and biogenesis; cell differentiation; proteolysis; skeletal development
Disease: Atrial Septal Defect 6
Research Articles on TLL1
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Products associated with TLL1 elisa kit
Pathways associated with TLL1 elisa kit
Diseases associated with TLL1 elisa kit
Organs/Tissues associated with TLL1 elisa kit
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