TLL1

TLL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3EDI
Identifiers
Aliases	TLL1 , ASD6, TLL, tolloid like 1
External IDs	OMIM: 606742; MGI: 106923; HomoloGene: 49202; GeneCards: TLL1; OMA:TLL1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4q32.3 Start 165,873,237 bp [1] End 166,104,457 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8 B3.1|8 32.19 cM Start 64,467,965 bp [2] End 64,659,305 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte gonad testicle cerebellar cortex cerebellar hemisphere epithelium of colon right hemisphere of cerebellum Achilles tendon gallbladder smooth muscle tissue Top expressed in muscular part of interventricular septum cardiac muscle tissue of interventricular septum aorticopulmonary septum vein endocardium of atrium interatrial septum septum primum endocardium of right atrium zygote secondary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding zinc ion binding peptidase activity hydrolase activity metallopeptidase activity metal ion binding metalloendopeptidase activity serine-type endopeptidase activity Cellular component extracellular region Biological process multicellular organism development skeletal system development cell differentiation extracellular matrix disassembly proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7092 21892 Ensembl ENSG00000038295 ENSMUSG00000053626 UniProt O43897 Q62381 RefSeq (mRNA) NM_001204760 NM_012464 NM_009390 RefSeq (protein) NP_001191689 NP_036596 NP_033416 Location (UCSC) Chr 4: 165.87 – 166.1 Mb Chr 8: 64.47 – 64.66 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000038295 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000053626 – Ensembl, May 2017
3. '"`UNIQ--templatestyles-00000006-QINU`"' "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. '"`UNIQ--templatestyles-00000008-QINU`"' "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: TLL1 tolloid-like 1".
7. https://pmc.ncbi.nlm.nih.gov/articles/PMC6328869/
8. 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.