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    Terf1 telomeric repeat binding factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 21749, updated on 2-Nov-2024

    Summary

    Official Symbol
    Terf1provided by MGI
    Official Full Name
    telomeric repeat binding factor 1provided by MGI
    Primary source
    MGI:MGI:109634
    See related
    Ensembl:ENSMUSG00000025925 AllianceGenome:MGI:109634
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pin2; Trf1; Trbf1
    Summary
    This gene encodes a protein that binds to repeats in telomeres to form a nucleoprotein complex that protects against the degradation of chromosomal ends. The encoded protein regulates the length of telomeres and is an integral structural component of the functional telomere. This protein is thought to play a role in spindle formation in mitosis. Mutations in this gene are associated with bone marrow failure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 5.8), liver E14 (RPKM 4.7) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Terf1 in Genome Data Viewer
    Location:
    1 A3; 1 4.88 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (15875634..15914283)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (15805546..15844052)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 25168 Neighboring gene peptidylprolyl isomerase A pseudogene 1_109.1 Neighboring gene STARR-seq mESC enhancer starr_00325 Neighboring gene STARR-seq mESC enhancer starr_00328 Neighboring gene STARR-seq mESC enhancer starr_00329 Neighboring gene STARR-seq mESC enhancer starr_00331 Neighboring gene somatomedin B and thrombospondin, type 1 domain containing Neighboring gene predicted gene, 31523

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (5)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding, bending IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding, bending ISO
    Inferred from Sequence Orthology
    more info
     
    enables G-rich strand telomeric DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables G-rich strand telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ankyrin repeat binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ankyrin repeat binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables double-stranded telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables double-stranded telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables double-stranded telomeric DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to telomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables telomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to telomerase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within leptotene IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within meiotic telomere clustering IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA replication ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of establishment of RNA localization to telomere IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of establishment of RNA localization to telomere ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of establishment of protein localization to telomere IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of establishment of protein localization to telomere ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of exonuclease activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of exonuclease activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of telomere maintenance via telomerase IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of telomeric D-loop disassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of telomeric D-loop disassembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of telomeric D-loop disassembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of shelterin complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of shelterin complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of telomere maintenance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in telomere capping ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in telomere maintenance via telomerase IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in telomere maintenance via telomerase IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in telomeric D-loop disassembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telomeric D-loop disassembly ISO
    Inferred from Sequence Orthology
    more info
     
    NOT involved_in telomeric loop formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in fibrillar center IEA
    Inferred from Electronic Annotation
    more info
     
    located_in fibrillar center ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    part_of nuclear telomere cap complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of nuclear telomere cap complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nuclear telomere cap complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of shelterin complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with spindle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    telomeric repeat-binding factor 1
    Names
    TTAGGG repeat-binding factor 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_001286628.2NP_001273557.1  telomeric repeat-binding factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001273557.1

      Status: REVIEWED

      Source sequence(s)
      AC109269
      Consensus CDS
      CCDS78547.1
      UniProtKB/TrEMBL
      Q3V252, Q7TSK8
      Related
      ENSMUSP00000027057.8, ENSMUST00000027057.8
      Conserved Domains (3) summary
      smart00717
      Location:338387
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd11660
      Location:341387
      SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
      cl02779
      Location:54222
      TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...
    2. NM_001420524.1NP_001407453.1  telomeric repeat-binding factor 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC109269
    3. NM_001420525.1NP_001407454.1  telomeric repeat-binding factor 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC109269
    4. NM_009352.4NP_033378.1  telomeric repeat-binding factor 1 isoform 1

      See identical proteins and their annotated locations for NP_033378.1

      Status: REVIEWED

      Source sequence(s)
      AC109269
      Consensus CDS
      CCDS14827.1
      UniProtKB/Swiss-Prot
      P70371, Q9CY71
      UniProtKB/TrEMBL
      Q7TSK8
      Related
      ENSMUSP00000140744.2, ENSMUST00000188371.7
      Conserved Domains (3) summary
      smart00717
      Location:367416
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd11660
      Location:370416
      SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
      cd00280
      Location:54251
      TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...

    RNA

    1. NR_152944.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC109269
    2. NR_185191.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC109269

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      15875634..15914283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_004941782.1 RNA Sequence

    2. XR_004941784.1 RNA Sequence