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 ... See more...

Aliases for TERF1 Gene

Aliases for TERF1 Gene

  • Telomeric Repeat Binding Factor 1 2 3 5
  • PIN2 2 3 4
  • TRF1 2 3 4
  • TRF 2 3 4
  • Telomeric Repeat Binding Factor (NIMA-Interacting) 1 2 3
  • Telomeric Repeat-Binding Factor 1 3 4
  • TTAGGG Repeat-Binding Factor 1 3 4
  • Telomeric Protein Pin2/TRF1 3 4
  • NIMA-Interacting Protein 2 3 4
  • TRBF1 3 4
  • HTRF1-AS 3
  • T-TRF1 3
  • TERF1 5

External Ids for TERF1 Gene

Previous HGNC Symbols for TERF1 Gene

  • TRBF1

Previous GeneCards Identifiers for TERF1 Gene

  • GC08P073861
  • GC08P073644
  • GC08P073971
  • GC08P074083
  • GC08P073921
  • GC08P069411

Summaries for TERF1 Gene

Entrez Gene Summary for TERF1 Gene

  • 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. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008]

GeneCards Summary for TERF1 Gene

TERF1 (Telomeric Repeat Binding Factor 1) is a Protein Coding gene. Diseases associated with TERF1 include Townes-Brocks Syndrome and Cherubism. Among its related pathways are Telomere Extension by Telomerase and Meiosis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and chromatin binding. An important paralog of this gene is TERF2.

UniProtKB/Swiss-Prot Summary for TERF1 Gene

  • Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways.

Gene Wiki entry for TERF1 Gene

Additional gene information for TERF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TERF1 Gene

Genomics for TERF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TERF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J073007 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.4 391 3.1 SP1 CREB1 GATAD2A PRDM10 ZNF629 TFE3 ZNF692 POLR2A BACH1 LARP7 TERF1 ENSG00000253636 RNU6-285P RF00026-1082 SBSPON
GH08J072536 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 -471.6 -471555 2.6 CTCF ZIC2 POLR2A PATZ1 EZH2 ZNF600 ZNF341 ZNF561 KLF9 ZBTB20 HSALNG0066135 KCNB2 TERF1 lnc-SBSPON-5
GH08J073489 Enhancer 1 Ensembl dbSUPER 10.5 +481.9 481945 3.6 ZNF629 TFE3 ZIC2 ZSCAN4 POLR2A PATZ1 ZNF501 PKNOX1 ZNF561 ARNT TERF1 RDH10 ENSG00000254273 lnc-RPL7-8 lnc-RPL7-6 RPL7 STAU2
GH08J072987 Enhancer 0.4 Ensembl ENCODE 12.9 -21.9 -21908 1.1 CTCF EU719711 TERF1 RNU6-285P RDH10 RPL7 ENSG00000253636 KCNB2
GH08J073054 Enhancer 0.2 Ensembl 10.6 +45.0 45045 0.2 ENSG00000253636 TERF1 RNU6-285P lnc-SBSPON-3 SBSPON
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TERF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TERF1

Top Transcription factor binding sites by QIAGEN in the TERF1 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • HNF-3beta
  • NF-Y
  • POU2F1
  • POU2F1a

Genomic Locations for TERF1 Gene

Genomic Locations for TERF1 Gene
chr8:73,008,856-73,048,123
(GRCh38/hg38)
Size:
39,268 bases
Orientation:
Plus strand
chr8:73,921,097-73,960,357
(GRCh37/hg19)
Size:
39,261 bases
Orientation:
Plus strand

Genomic View for TERF1 Gene

Genes around TERF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TERF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TERF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TERF1 Gene

Proteins for TERF1 Gene

  • Protein details for TERF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54274-TERF1_HUMAN
    Recommended name:
    Telomeric repeat-binding factor 1
    Protein Accession:
    P54274
    Secondary Accessions:
    • A7XP29
    • Q15553
    • Q8NHT6
    • Q93029

    Protein attributes for TERF1 Gene

    Size:
    439 amino acids
    Molecular mass:
    50246 Da
    Quaternary structure:
    • Homodimer; can contain both isoforms. Found in a complex with POT1; TINF2 and TNKS1. Interacts with ATM, TINF2, TNKS1, TNKS2, PINX1, NEK2 and MAPRE1. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Interacts with RLIM (via N-terminus). Interacts with FBXO4. Interaction with TINF2 protects against interaction with FBXO4 and subsequent polyubiquitination and proteasomal degradation. Interacts with GNL3L; this interaction promotes homodimerization. Interacts with TIN2. Interacts with RTEL1. Interactions with GNL3L and TIN2 are mutually exclusive. Interacts with CCDC79/TERB1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for TERF1 Gene

    Alternative splice isoforms for TERF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TERF1 Gene

Post-translational modifications for TERF1 Gene

  • Phosphorylated preferentially on Ser-219 in an ATM-dependent manner in response to ionizing DNA damage.
  • ADP-ribosylation by TNKS1 or TNKS2 diminishes its ability to bind to telomeric DNA.
  • Ubiquitinated by RLIM/RNF12, leading to its degradation by the proteasome. Ubiquitinated by a SCF (SKP1-CUL1-F-box protein) ubiquitin-protein ligase complex, leading to its degradation by the proteasome.
  • Ubiquitination at Lys411
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TERF1 Gene

Domains & Families for TERF1 Gene

Gene Families for TERF1 Gene

Protein Domains for TERF1 Gene

InterPro:
Blocks:
  • Telomere repeat binding factor, TRF
ProtoNet:

Suggested Antigen Peptide Sequences for TERF1 Gene

GenScript: Design optimal peptide antigens:
  • Telomeric protein Pin2/TRF1 (TERF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54274

UniProtKB/Swiss-Prot:

TERF1_HUMAN :
  • The acidic N-terminal domain binds to the ankyrin repeats of TNKS1 and TNKS2. The C-terminal domain binds microtubules.
Domain:
  • The acidic N-terminal domain binds to the ankyrin repeats of TNKS1 and TNKS2. The C-terminal domain binds microtubules.
  • The TRFH dimerization region mediates the interaction with TINF2.
  • The HTH domain is an independent structural unit and mediates binding to telomeric DNA.
genes like me logo Genes that share domains with TERF1: view

Function for TERF1 Gene

Molecular function for TERF1 Gene

UniProtKB/Swiss-Prot Function:
Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways.
UniProtKB/Swiss-Prot Induction:
Expression is tightly regulated during the cell cycle; levels are low in G1 and S phase and increase during G2 phase and mitosis.
GENATLAS Biochemistry:
TTAGGG repeats binding factor 1,telomeric Myb-related protein,56kDa,suppressor of telomere elongation,involved in the feedback mechanism that stabilizes telomer lenght,ubiquitous

Phenotypes From GWAS Catalog for TERF1 Gene

Gene Ontology (GO) - Molecular Function for TERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 7502076
GO:0003691 double-stranded telomeric DNA binding IBA,IDA 12768206
GO:0003720 contributes_to telomerase activity IBA,IDA 23685356
GO:0005515 protein binding IPI 9822378
GO:0008017 microtubule binding IBA 21873635
genes like me logo Genes that share ontologies with TERF1: view
genes like me logo Genes that share phenotypes with TERF1: view

Animal Models for TERF1 Gene

MGI Knock Outs for TERF1:

Animal Model Products

CRISPR Products

miRNA for TERF1 Gene

miRTarBase miRNAs that target TERF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TERF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TERF1 Gene

Localization for TERF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TERF1 Gene

Nucleus. Cytoplasm, cytoskeleton, spindle. Chromosome, telomere. Note=Colocalizes with telomeric DNA in interphase and prophase cells. Telomeric localization decreases in metaphase, anaphase and telophase. Associates with the mitotic spindle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TERF1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0000783 nuclear telomere cap complex IBA,ISS 7502076
GO:0000784 nuclear chromosome, telomeric region IDA 15133513
GO:0001650 fibrillar center IDA --
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with TERF1: view

Pathways & Interactions for TERF1 Gene

genes like me logo Genes that share pathways with TERF1: view

Pathways by source for TERF1 Gene

2 Qiagen pathways for TERF1 Gene
  • Telomerase Components in Cell Signaling
  • Telomere Extension by Telomerase

SIGNOR curated interactions for TERF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IMP 24415760
GO:0007004 telomere maintenance via telomerase IBA,IDA 23685356
GO:0007049 cell cycle IEA --
GO:0008156 negative regulation of DNA replication IBA,IDA 11327863
GO:0016233 telomere capping TAS --
genes like me logo Genes that share ontologies with TERF1: view

Drugs & Compounds for TERF1 Gene

(1) Drugs for TERF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for TERF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TERF1: view

Transcripts for TERF1 Gene

mRNA/cDNA for TERF1 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TERF1

Alternative Splicing Database (ASD) splice patterns (SP) for TERF1 Gene

No ASD Table

Relevant External Links for TERF1 Gene

GeneLoc Exon Structure for
TERF1

Expression for TERF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TERF1 Gene

Protein differential expression in normal tissues from HIPED for TERF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.8), Fetal ovary (15.5), Heart (8.2), and Blymphocyte (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TERF1 Gene



Protein tissue co-expression partners for TERF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TERF1

SOURCE GeneReport for Unigene cluster for TERF1 Gene:

Hs.442707

mRNA Expression by UniProt/SwissProt for TERF1 Gene:

P54274-TERF1_HUMAN
Tissue specificity: Highly expressed and ubiquitous. Isoform Pin2 predominates.

Evidence on tissue expression from TISSUES for TERF1 Gene

  • Liver(4.5)
  • Nervous system(3.8)
  • Lung(3.1)
  • Kidney(2.6)
  • Blood(2.5)
  • Skin(2.5)
  • Heart(2.4)
  • Intestine(2.3)
  • Muscle(2.2)
  • Bone marrow(2.1)
  • Stomach(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with TERF1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TERF1 Gene

Orthologs for TERF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TERF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TERF1 30 31
  • 99.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TERF1 30 31
  • 87.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TERF1 30 31
  • 86.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Terf1 30
  • 78.89 (n)
Mouse
(Mus musculus)
Mammalia Terf1 30 17 31
  • 77.49 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TERF1 31
  • 54 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 48 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
Chicken
(Gallus gallus)
Aves TERF1 30 31
  • 59.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TERF1 31
  • 35 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia terf1 30
  • 53.85 (n)
Zebrafish
(Danio rerio)
Actinopterygii terf1 30 31
  • 47.44 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5936 31
  • 28 (a)
OneToMany
Species where no ortholog for TERF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TERF1 Gene

ENSEMBL:
Gene Tree for TERF1 (if available)
TreeFam:
Gene Tree for TERF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TERF1: view image

Paralogs for TERF1 Gene

Paralogs for TERF1 Gene

(1) SIMAP similar genes for TERF1 Gene using alignment to 3 proteins:

  • TERF1_HUMAN
  • E5RFJ5_HUMAN
  • E7EWM7_HUMAN
genes like me logo Genes that share paralogs with TERF1: view

Variants for TERF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TERF1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
784129 Benign: not provided 73,046,005(+) G/A SYNONYMOUS_VARIANT
784130 Benign: not provided 73,046,075(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TERF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TERF1 Gene

Variant ID Type Subtype PubMed ID
esv2737154 CNV deletion 23290073
esv996705 CNV insertion 20482838
nsv831354 CNV gain 17160897
nsv971322 CNV duplication 23825009

Variation tolerance for TERF1 Gene

Residual Variation Intolerance Score: 82.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TERF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TERF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TERF1 Gene

Disorders for TERF1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for TERF1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
townes-brocks syndrome
  • renal-ear-anal-radial syndrome
cherubism
  • crbm
revesz syndrome
  • dyskeratosis congenita, autosomal dominant 5; dkca5
arthrogryposis, renal dysfunction, and cholestasis 1
  • arcs1
nijmegen breakage syndrome
  • nbs
- elite association - COSMIC cancer census association via MalaCards
Search TERF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TERF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TERF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TERF1 Gene

Publications for TERF1 Gene

  1. Characterization and cell cycle regulation of the related human telomeric proteins Pin2 and TRF1 suggest a role in mitosis. (PMID: 9391075) Shen M … Lu KP (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23
  2. Structural basis of selective ubiquitination of TRF1 by SCFFbx4. (PMID: 20159592) Zeng Z … Lei M (Developmental cell 2010) 3 4 23
  3. GNL3L stabilizes the TRF1 complex and promotes mitotic transition. (PMID: 19487455) Zhu Q … Tsai RY (The Journal of cell biology 2009) 3 4 23
  4. Ubiquitin Ligase RLIM Modulates Telomere Length Homeostasis through a Proteolysis of TRF1. (PMID: 19164295) Her YR … Chung IK (The Journal of biological chemistry 2009) 3 4 23
  5. Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis. (PMID: 19766477) Varadi V … Försti A (European journal of cancer (Oxford, England : 1990) 2009) 3 23 41

Products for TERF1 Gene

  • Addgene plasmids for TERF1
  • Signalway ELISA kits for TERF1
  • Signalway Proteins for TERF1

Sources for TERF1 Gene