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

    Gene ID: 21892, updated on 27-Nov-2024

    Summary

    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
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    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001424916.1NP_001411845.1  tolloid-like protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC110622, AC147185, AC149051
    2. NM_009390.4NP_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:148347
      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:462571
      CUB; CUB domain
      pfam01400
      Location:155348
      Astacin; Astacin (Peptidase family M12A)
      pfam14670
      Location:734769
      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_011242185.3XP_011240487.1  tolloid-like protein 1 isoform X2

      Conserved Domains (3) summary
      pfam00431
      Location:176285
      CUB; CUB domain
      pfam14670
      Location:448483
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00064
      Location:2061
      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_006509315.4XP_006509378.1  tolloid-like protein 1 isoform X3

      Conserved Domains (3) summary
      pfam00431
      Location:69178
      CUB; CUB domain
      pfam14670
      Location:341376
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00049
      Location:165
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.