Tolloid-like protein 1 is a protein that in humans is encoded by the TLL1 gene.[5][6]
This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. A similar protein in mice is required during heart development and specifically processes procollagen C-propeptides and chordin at similar cleavage sites.[6]
In clinical context, TLL1 was mostly associated with atrial septal defect in an autosomal dominant mode of inheritance of loss-of-function mutations [7]. However, functional studies have also linked its gain-of-function with mitral valve prolapse [8].
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000038295 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053626 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Scott IC, Clark TG, Takahara K, Hoffman GG, Eddy RL, Haley LL, Shows TB, Greenspan DS (Oct 1999). "Assignment of TLL1 and TLL2, which encode human BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32→q33 and 10q23→q24 and assignment of murine Tll2 to chromosome 19". Cytogenet Cell Genet. 86 (1): 64–65. doi:10.1159/000015412. PMID 10516436. S2CID 42081614.
- ^ a b "Entrez Gene: TLL1 tolloid-like 1".
- ^ https://pmc.ncbi.nlm.nih.gov/articles/PMC6328869/
- ^ https://onlinecjc.ca/article/S0828-282X(25)00074-1/fulltext
Further reading
- Takahara K, Brevard R, Hoffman GG, et al. (1997). "Characterization of a novel gene product (mammalian tolloid-like) with high sequence similarity to mammalian tolloid/bone morphogenetic protein-1". Genomics. 34 (2): 157–165. doi:10.1006/geno.1996.0260. PMID 8661043.
- Scott IC, Blitz IL, Pappano WN, et al. (1999). "Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis". Dev. Biol. 213 (2): 283–300. doi:10.1006/dbio.1999.9383. PMID 10479448.
- Scott IC, Imamura Y, Pappano WN, et al. (2000). "Bone morphogenetic protein-1 processes probiglycan". J. Biol. Chem. 275 (39): 30504–30511. doi:10.1074/jbc.M004846200. PMID 10896944.
- Uzel MI, Scott IC, Babakhanlou-Chase H, et al. (2001). "Multiple bone morphogenetic protein 1-related mammalian metalloproteinases process pro-lysyl oxidase at the correct physiological site and control lysyl oxidase activation in mouse embryo fibroblast cultures". J. Biol. Chem. 276 (25): 22537–22543. doi:10.1074/jbc.M102352200. PMID 11313359.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ge G, Zhang Y, Steiglitz BM, Greenspan DS (2006). "Mammalian tolloid-like 1 binds procollagen C-proteinase enhancer protein 1 and differs from bone morphogenetic protein 1 in the functional roles of homologous protein domains". J. Biol. Chem. 281 (16): 10786–10798. doi:10.1074/jbc.M511111200. PMID 16507574.
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