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    Tll1 tolloid-like [ Mus musculus (house mouse) ]

    Gene ID: 21892, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Tll1provided by MGI
    Official Full Name
    tolloid-likeprovided by MGI
    Primary source
    MGI:MGI:106923
    See related
    Ensembl:ENSMUSG00000053626 AllianceGenome:MGI:106923
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tll; Tll-1; b2b2476Clo
    Summary
    Enables collagen binding activity. Predicted to be involved in dorsal/ventral pattern formation and protein processing. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in several structures, including brain; cardiovascular system; hepatic primordium; sclerotome condensation; and trachea mesenchyme. Human ortholog(s) of this gene implicated in atrial heart septal defect 6; congenital heart disease; and coronary artery disease. Orthologous to human TLL1 (tolloid like 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 2.0), limb E14.5 (RPKM 0.7) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tll1 in Genome Data Viewer
    Location:
    8 B3.1; 8 32.19 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (64466132..64659043, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (64013098..64206008, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 24580 Neighboring gene STARR-seq mESC enhancer starr_21627 Neighboring gene predicted gene, 35713 Neighboring gene shugoshin 2B Neighboring gene STARR-seq mESC enhancer starr_21629 Neighboring gene STARR-seq mESC enhancer starr_21630 Neighboring gene predicted gene, 53436 Neighboring gene predicted gene, 35472 Neighboring gene STARR-seq mESC enhancer starr_21631 Neighboring gene STARR-seq mESC enhancer starr_21632 Neighboring gene STARR-seq mESC enhancer starr_21633 Neighboring gene STARR-seq mESC enhancer starr_21635 Neighboring gene predicted gene, 35521

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Inactivation of bone morphogenetic protein 1 (Bmp1) and tolloid-like 1 (Tll1) in cells expressing type I collagen leads to dental and periodontal defects in mice. Zhang H, et al. J Mol Histol, 2017 Apr. PMID 28000152, Free PMC Article
    2. Activation of Tolloid-like 1 gene expression by the cardiac specific homeobox gene Nkx2-5. Sabirzhanova I, et al. Dev Growth Differ, 2009 May. PMID 19366374, Free PMC Article
    3. Skeletal muscle expression of bone morphogenetic protein-1 and tolloid-like-1 extracellular proteases in different fiber types and in response to unloading, food deprivation and differentiation. Allen DL, et al. J Physiol Sci, 2010 Sep. PMID 20658214, Free PMC Article
    4. Precise Spatiotemporal Control of Nodal Na(+) Channel Clustering by Bone Morphogenetic Protein-1/Tolloid-like Proteinases. Eshed-Eisenbach Y, et al. Neuron, 2020 Jun 3. PMID 32209430
    5. Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues. Takahara K, et al. J Biol Chem, 1994 Dec 23. PMID 7798260

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Precise Spatiotemporal Control of Nodal Na(+) Channel Clustering by Bone Morphogenetic Protein-1/Tolloid-like Proteinases.
      Title: Precise Spatiotemporal Control of Nodal Na(+) Channel Clustering by Bone Morphogenetic Protein-1/Tolloid-like Proteinases.
    2. Loss of BMP1-like proteinase activity is shown to result in markedly thinned and fragile skin with unusually densely packed collagen fibrils and delayed wound healing.
      Title: BMP1-like proteinases are essential to the structure and wound healing of skin.
    3. plays crucial role in maintaining extracellular matrix homeostasis essential to root formation and dentin mineralization
      Title: Essential Roles of Bone Morphogenetic Protein-1 and Mammalian Tolloid-like 1 in Postnatal Root Dentin Formation.
    4. the proteinases encoded by Bmp1 and Tll1 genes play essential roles in the development and maintenance of mouse dentin and periodontal ligaments.
      Title: Inactivation of bone morphogenetic protein 1 (Bmp1) and tolloid-like 1 (Tll1) in cells expressing type I collagen leads to dental and periodontal defects in mice.
    5. The presented data demonstrate Bmp1/Tll1 products to be of profound importance to bone growth and modeling.
      Title: Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.
    6. TLL1 mRNA levels significantly increased in the tibialis anterior muscle with 3 days of hindlimb suspension and significantly decreased in response to 2 days of food deprivation.
      Title: Skeletal muscle expression of bone morphogenetic protein-1 and tolloid-like-1 extracellular proteases in different fiber types and in response to unloading, food deprivation and differentiation.
    7. The results show that Nkx2-5 is a direct activator of Tll-1 expression and provide insight into the mechanism of the defects found in both the Tll-1 and Nkx2-5 knockout mice.
      Title: Activation of Tolloid-like 1 gene expression by the cardiac specific homeobox gene Nkx2-5.
    8. products of Bmp1 and Tll1 are responsible for in vivo cleavage of Chordin in mammals
      Title: Use of Bmp1/Tll1 doubly homozygous null mice and proteomics to identify and validate in vivo substrates of bone morphogenetic protein 1/tolloid-like metalloproteinases.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Targeted (4)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dorsal/ventral pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tolloid-like protein 1
    NP_001411845.1
    NP_033416.2
    XP_006509378.1
    XP_011240487.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001424916.1 → NP_001411845.1  tolloid-like protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC110622, AC147185, AC149051

    2. NM_009390.4 → NP_033416.2  tolloid-like protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_033416.2

      Status: VALIDATED

      Source sequence(s)
      AC110622, AC147185, AC149051
      Consensus CDS
      CCDS40352.1
      UniProtKB/Swiss-Prot
      Q3UTT9, Q62381, Q8BNP5
      UniProtKB/TrEMBL
      G3X9F5
      Related
      ENSMUSP00000070560.5, ENSMUST00000066166.6
      Conserved Domains (4) summary
      cd04281
      Location:148 → 347
      ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...
      pfam00431
      Location:462 → 571
      CUB; CUB domain
      pfam01400
      Location:155 → 348
      Astacin; Astacin (Peptidase family M12A)
      pfam14670
      Location:734 → 769
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      64466132..64659043 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242185.3 → XP_011240487.1  tolloid-like protein 1 isoform X2

      Conserved Domains (3) summary
      pfam00431
      Location:176 → 285
      CUB; CUB domain
      pfam14670
      Location:448 → 483
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00064
      Location:20 → 61
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

    2. XM_006509315.4 → XP_006509378.1  tolloid-like protein 1 isoform X3

      Conserved Domains (3) summary
      pfam00431
      Location:69 → 178
      CUB; CUB domain
      pfam14670
      Location:341 → 376
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00049
      Location:1 → 65
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q62381.1 GenPept UniProtKB/Swiss-Prot:Q62381

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