Version: 8.0.0
Date: Tue Jan 28 2025
TERF1
Homo sapiensHGNC:11728
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TERF1

Species
Homo sapiens
Symbol
TERF1
Name
telomeric repeat binding factor 1
Synonyms
  • FLJ41416
  • hTRF1-AS
Biotype
protein coding gene
Automated Description
Enables several functions, including DNA binding activity; ankyrin repeat binding activity; and protein homodimerization activity. Contributes to telomerase activity. Involved in several processes, including negative regulation of establishment of RNA localization to telomere; negative regulation of nucleobase-containing compound metabolic process; and telomere maintenance. Located in chromosome, telomeric region; nuclear lumen; and spindle. Part of shelterin complex. Biomarker of breast cancer and stomach cancer.
RGD Description
This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Multiple transcripts of this gene are alternatively spliced products. [provided by RefSeq, Aug 2022]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46734
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
    References
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
        Has Disease Annotations
        Has Phenotype Annotations
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          Models

          Model name
          Experimental condition
          Associated Human Diseases
          Associated Phenotypes
          Modifier
          Source
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
            Viewer Help
            73.010M73.015M73.020M73.025M73.030M73.035M73.040M73.045M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            TERF1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              TERF1 role
              TERF1 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
              Reference
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