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    Tll1 tolloid-like 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 678743, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tll1provided by RGD
    Official Full Name
    tolloid-like 1provided by RGD
    Primary source
    RGD:1306120
    See related
    EnsemblRapid:ENSRNOG00000033528 AllianceGenome:RGD:1306120
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Tll
    Summary
    Predicted to enable collagen binding activity and metalloendopeptidase activity. Predicted to be involved in dorsal/ventral pattern formation and protein processing. Predicted to be active in extracellular space. 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, Dec 2024]
    Expression
    Biased expression in Brain (RPKM 26.6), Muscle (RPKM 22.5) and 7 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Tll1 in Genome Data Viewer
    Location:
    16p13
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 16 NC_086034.1 (30275492..30476673)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 16 NC_051351.1 (25509146..25710330)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 16 NC_005115.4 (27399467..27597240)

    Chromosome 16 - NC_086034.1Genomic Context describing neighboring genes Neighboring gene U4 spliceosomal RNA Neighboring gene uncharacterized LOC103693926 Neighboring gene uncharacterized LOC108348393 Neighboring gene high mobility group protein B1 pseudogene Neighboring gene small nucleolar RNA SNORA17 Neighboring gene nucleophosmin 1, pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. [Metalloproteinase Tolloid-like 1 gene mutation in Chinese patients with sporadic congenital heart diseases]. Li J, et al. Zhonghua Xin Xue Guan Bing Za Zhi, 2012 May. PMID 22883091
    2. Peroxisome proliferator-activated receptor pathway gene polymorphism associated with extent of coronary artery disease in patients with type 2 diabetes in the bypass angioplasty revascularization investigation 2 diabetes trial. Cresci S, et al. Circulation, 2011 Sep 27. PMID 21911782, Free PMC Article
    3. Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. Stańczak P, et al. Eur J Hum Genet, 2009 Mar. PMID 18830233, Free PMC Article
    4. Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease. LaHaye S, et al. Circ Cardiovasc Genet, 2016 Aug. PMID 27418595, Free PMC Article
    5. The mammalian Tolloid-like 1 gene, Tll1, is necessary for normal septation and positioning of the heart. Clark TG, et al. Development, 1999 Jun. PMID 10331975

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables collagen binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    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
    		  
    Component Evidence Code Pubs
    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_001099551.1
    XP_038950743.1
    XP_038950744.1
    XP_063131778.1

    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_001106081.3 → NP_001099551.1  tolloid-like protein 1 precursor

      See identical proteins and their annotated locations for NP_001099551.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000016
      UniProtKB/TrEMBL
      A6KFP6, D3Z8U5
      Related
      ENSRNOP00000058943.4, ENSRNOT00000065642.5
      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_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086034.1 Reference GRCr8

      Range
      30275492..30476673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063275708.1 → XP_063131778.1  tolloid-like protein 1 isoform X1

      Related
      ENSRNOP00000107487.1, ENSRNOT00000147090.1

    2. XM_039094815.2 → XP_038950743.1  tolloid-like protein 1 isoform X2

      Conserved Domains (3) summary
      pfam00431
      Location:155 → 264
      CUB; CUB domain
      pfam14670
      Location:427 → 462
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00064
      Location:1 → 40
      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 ...

    3. XM_039094816.2 → XP_038950744.1  tolloid-like protein 1 isoform X3

      Conserved Domains (2) summary
      pfam00431
      Location:276 → 385
      CUB; CUB domain
      pfam14670
      Location:236 → 271
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    Nucleotide Protein Strain
    Heading Accession and Version

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