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TLL1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Tolloid-like protein 1 is a protein that in humans is encoded by the TLL1 gene.{{cite journal | vauthors = Scott IC, Clark TG, Takahara K, Hoffman GG, Eddy RL, Haley LL, Shows TB, Greenspan DS | title = 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 | journal = Cytogenet Cell Genet | volume = 86 | issue = 1 | pages = 64–65 |date=Oct 1999 | pmid = 10516436 | doi =10.1159/000015412 | s2cid = 42081614 }}{{cite web | title = Entrez Gene: TLL1 tolloid-like 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7092}}

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.

In clinical context, TLL1 was mostly associated with atrial septal defect in an autosomal dominant mode of inheritance of loss-of-function mutations.{{cite journal | pmc=6328869 | date=2019 | last1=Sieron | first1=L. | last2=Lesiak | first2=M. | last3=Schisler | first3=I. | last4=Drzazga | first4=Z. | last5=Fertala | first5=A. | last6=Sieron | first6=A. L. | title=Functional and structural studies of tolloid-like 1 mutants associated with atrial-septal defect 6 | journal=Bioscience Reports | volume=39 | issue=1 | pages=BSR20180270 | doi=10.1042/BSR20180270 | pmid=30538173 }} However, functional studies have also linked its gain-of-function with mitral valve prolapse.{{cite journal | url=https://onlinecjc.ca/article/S0828-282X(25)00074-1/fulltext | pmid=39880331 | date=2025 | last1=Agam | first1=N. | last2=Dolgin | first2=V. | last3=Star | first3=A. | last4=Freund | first4=O. | last5=Jean | first5=M. M. | last6=Safran | first6=A. | last7=Poleg | first7=T. | last8=Zahger | first8=D. | last9=Birk | first9=O. S. | title=Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation | journal=The Canadian Journal of Cardiology | volume=41 | issue=5 | pages=928–935 | doi=10.1016/j.cjca.2025.01.018 }}

References

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Further reading

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  • {{cite journal |vauthors=Takahara K, Brevard R, Hoffman GG, etal |title=Characterization of a novel gene product (mammalian tolloid-like) with high sequence similarity to mammalian tolloid/bone morphogenetic protein-1. |journal=Genomics |volume=34 |issue= 2 |pages= 157–165 |year= 1997 |pmid= 8661043 |doi= 10.1006/geno.1996.0260 }}
  • {{cite journal |vauthors=Scott IC, Blitz IL, Pappano WN, etal |title=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. |journal=Dev. Biol. |volume=213 |issue= 2 |pages= 283–300 |year= 1999 |pmid= 10479448 |doi= 10.1006/dbio.1999.9383 |doi-access= free }}
  • {{cite journal |vauthors=Scott IC, Imamura Y, Pappano WN, etal |title=Bone morphogenetic protein-1 processes probiglycan. |journal=J. Biol. Chem. |volume=275 |issue= 39 |pages= 30504–30511 |year= 2000 |pmid= 10896944 |doi= 10.1074/jbc.M004846200 |doi-access= free }}
  • {{cite journal |vauthors=Uzel MI, Scott IC, Babakhanlou-Chase H, etal |title=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. |journal=J. Biol. Chem. |volume=276 |issue= 25 |pages= 22537–22543 |year= 2001 |pmid= 11313359 |doi= 10.1074/jbc.M102352200 |doi-access= free }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–45 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–2127 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
  • {{cite journal | vauthors=Ge G, Zhang Y, Steiglitz BM, Greenspan DS |title=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. |journal=J. Biol. Chem. |volume=281 |issue= 16 |pages= 10786–10798 |year= 2006 |pmid= 16507574 |doi= 10.1074/jbc.M511111200 |doi-access= free }}

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{{Intercellular signaling peptides and proteins}}

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