UniProt Protein Function: | 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; EC 3.4.24.-; Secreted, signal peptide; ProteaseChromosomal Location of Human Ortholog: 4q32-q33Cellular Component: extracellular regionMolecular Function: metalloendopeptidase activity; serine-type endopeptidase activityBiological Process: extracellular matrix disassembly; skeletal developmentDisease: Atrial Septal Defect 6 |
UniProt Protein Details: | |
NCBI Summary: | 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 Code: | O43897 |
NCBI GenInfo Identifier: | 74762106 |
NCBI Gene ID: | 7092 |
NCBI Accession: | O43897.1 |
UniProt Secondary Accession: | O43897,Q96AN3, Q9NQS4, B2RMU2 |
UniProt Related Accession: | O43897 |
Molecular Weight: | 44,186 Da |
NCBI Full Name: | Tolloid-like protein 1 |
NCBI Synonym Full Names: | tolloid like 1 |
NCBI Official Symbol: | TLL1Â Â |
NCBI Official Synonym Symbols: | TLL; ASD6Â Â |
NCBI Protein Information: | tolloid-like protein 1 |
UniProt Protein Name: | Tolloid-like protein 1 |
UniProt Synonym Protein Names: | |
Protein Family: | Tolloid-like protein |
UniProt Gene Name: | TLL1Â Â |
UniProt Entry Name: | TLL1_HUMAN |