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    Tcof1 treacle ribosome biogenesis factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 21453, updated on 23-Jun-2021

    Summary

    Official Symbol
    Tcof1provided by MGI
    Official Full Name
    treacle ribosome biogenesis factor 1provided by MGI
    Primary source
    MGI:MGI:892003
    See related
    Ensembl:ENSMUSG00000024613
    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
    trea; treacle; AA408847; AW209012
    Expression
    Ubiquitous expression in thymus adult (RPKM 18.2), spleen adult (RPKM 10.0) and 27 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Tcof1 in Genome Data Viewer
    Location:
    18 E1; 18 34.41 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (60946827..60982055, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (60813738..60848983, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 18 NC_000084.5 (60974196..61008562, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene 40S ribosomal protein S16 pseudogene Neighboring gene CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) Neighboring gene microRNA 5107 Neighboring gene predicted gene, 41744 Neighboring gene predicted gene, 41745

    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)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-macromolecule adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables scaffold protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables scaffold protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in fibrillar center ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    treacle protein
    Names
    Treacher Collins Franceschetti syndrome 1, homolog
    treacher Collins syndrome protein homolog

    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_001198984.1NP_001185913.1  treacle protein isoform 1

      See identical proteins and their annotated locations for NP_001185913.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC139759, BC057342
      Consensus CDS
      CCDS57125.1
      UniProtKB/TrEMBL
      H3BL37, Q6PFZ6
      Related
      ENSMUSP00000135639.2, ENSMUST00000175934.8
      Conserved Domains (2) summary
      smart00667
      Location:637
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:321792
      Treacle; Treacher Collins syndrome protein Treacle
    2. NM_011552.3NP_035682.1  treacle protein isoform 2

      See identical proteins and their annotated locations for NP_035682.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame alternate exon in the 3' coding region, compared to variant 1, and encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AC139759, BC057342
      Consensus CDS
      CCDS37836.1
      UniProtKB/Swiss-Prot
      O08784
      UniProtKB/TrEMBL
      Q6PFZ6
      Related
      ENSMUSP00000135476.2, ENSMUST00000176630.8
      Conserved Domains (2) summary
      smart00667
      Location:637
      LisH; Lissencephaly type-1-like homology motif
      pfam03546
      Location:321792
      Treacle; Treacher Collins syndrome protein Treacle

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      60946827..60982055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011246875.3XP_011245177.1  treacle protein isoform X3

      Related
      ENSMUSP00000134755.2, ENSMUST00000177172.8
      Conserved Domains (3) summary
      smart00667
      Location:637
      LisH; Lissencephaly type-1-like homology motif
      PHA03247
      Location:6301063
      PHA03247; large tegument protein UL36; Provisional
      pfam03546
      Location:321744
      Treacle; Treacher Collins syndrome protein Treacle
    2. XM_011246874.3XP_011245176.1  treacle protein isoform X2

      Conserved Domains (3) summary
      smart00667
      Location:637
      LisH; Lissencephaly type-1-like homology motif
      PHA03247
      Location:6301099
      PHA03247; large tegument protein UL36; Provisional
      pfam03546
      Location:321744
      Treacle; Treacher Collins syndrome protein Treacle
    3. XM_006525777.3XP_006525840.1  treacle protein isoform X1

      Conserved Domains (3) summary
      smart00667
      Location:637
      LisH; Lissencephaly type-1-like homology motif
      PHA03247
      Location:6781147
      PHA03247; large tegument protein UL36; Provisional
      pfam03546
      Location:321792
      Treacle; Treacher Collins syndrome protein Treacle

    RNA

    1. XR_001782353.2 RNA Sequence

    2. XR_385982.4 RNA Sequence

      Related
      ENSMUST00000163446.9
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