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Aliases for TERF1 Gene

Aliases for TERF1 Gene

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

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 aplastic anemia. Among its related pathways are DNA Damage and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include protein homodimerization activity and chromatin binding. An important paralog of this gene is TERF2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TERF1 Gene

Genomics for TERF1 Gene

Regulatory Elements for TERF1 Gene

Enhancers for TERF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TERF1 on UCSC Golden Path with GeneCards custom track

Promoters for TERF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TERF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TERF1 Gene

Chromosome:
8
Start:
73,008,862 bp from pter
End:
73,048,123 bp from pter
Size:
39,262 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

Proteomics data for TERF1 Gene at MOPED

Post-translational modifications for TERF1 Gene

  • ADP-ribosylation by TNKS1 or TNKS2 diminishes its ability to bind to telomeric DNA.
  • Phosphorylated preferentially on Ser-219 in an ATM-dependent manner in response to ionizing DNA damage.
  • 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 Lys 411
  • Modification sites at PhosphoSitePlus

Other Protein References for TERF1 Gene

Antibody Products

No data available for DME Specific Peptides for TERF1 Gene

Domains & Families for TERF1 Gene

Gene Families for TERF1 Gene

Suggested Antigen Peptide Sequences for TERF1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 1 HTH myb-type DNA-binding domain.
genes like me logo Genes that share domains with TERF1: view

Function for TERF1 Gene

Molecular function for TERF1 Gene

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
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.

Gene Ontology (GO) - Molecular Function for TERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003691 double-stranded telomeric DNA binding IDA 1406665
GO:0008017 microtubule binding IDA 11943150
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

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
Jensen Localization Image for TERF1 Gene COMPARTMENTS Subcellular localization image for TERF1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005819 spindle 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

1 Cell Signaling Technology pathway for TERF1 Gene
1 BioSystems pathway for TERF1 Gene

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:0000086 G2/M transition of mitotic cell cycle IEP 9391075
GO:0007094 mitotic spindle assembly checkpoint IMP 11943150
GO:0032211 negative regulation of telomere maintenance via telomerase IGI 11971978
GO:0032214 negative regulation of telomere maintenance via semi-conservative replication NAS 15007108
GO:0045840 positive regulation of mitotic nuclear division IMP 11313893
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

Unigene Clusters for TERF1 Gene

Telomeric repeat binding factor (NIMA-interacting) 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for TERF1 Gene

GeneLoc Exon Structure for
TERF1
ECgene alternative splicing isoforms for
TERF1

Expression for TERF1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for TERF1 Gene



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.
genes like me logo Genes that share expression patterns with TERF1: view

Protein tissue co-expression partners for TERF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia TERF1 35
  • 87.59 (n)
  • 83.91 (a)
TERF1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TERF1 35
  • 86.79 (n)
  • 81.57 (a)
TERF1 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Terf1 35
  • 77.49 (n)
  • 67.54 (a)
Terf1 16
Terf1 36
  • 63 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TERF1 35
  • 99.01 (n)
  • 98.41 (a)
TERF1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Terf1 35
  • 78.89 (n)
  • 68.33 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 48 (a)
OneToMany
-- 36
  • 35 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TERF1 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves TERF1 35
  • 59.67 (n)
  • 45.99 (a)
TERF1 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TERF1 36
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia terf1 35
  • 53.85 (n)
  • 42.06 (a)
zebrafish
(Danio rerio)
Actinopterygii terf1 35
  • 47.44 (n)
  • 34.05 (a)
terf1 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5936 36
  • 28 (a)
OneToMany
Species with no ortholog for TERF1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TERF1 Gene

Paralogs for TERF1 Gene

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

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

Variants for TERF1 Gene

Sequence variations from dbSNP and Humsavar for TERF1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2306492 -- 73,039,667(-) GACTA(C/T)AGTCA intron-variant
rs2306493 -- 73,039,039(-) ATTAT(A/C)ATGAA intron-variant
rs2306494 -- 73,038,992(-) TTTAA(C/T)TTTTT intron-variant
rs9298212 -- 73,017,764(+) GTGAC(A/G)CCATC intron-variant
rs9298213 -- 73,019,209(+) GATGT(C/G)GTGTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2737154 CNV Deletion 23290073
nsv831354 CNV Gain 17160897
esv996705 CNV Insertion 20482838

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)

Relevant External Links for TERF1 Gene

HapMap Linkage Disequilibrium report
TERF1

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

Disorders for TERF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TERF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
aplastic anemia
  • pulmonary fibrosis, idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search TERF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TERF1

Genetic Association Database (GAD)
TERF1
Human Genome Epidemiology (HuGE) Navigator
TERF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TERF1
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 K.P. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 23 67
  2. Structural basis of selective ubiquitination of TRF1 by SCFFbx4. (PMID: 20159592) Zeng Z. … Lei M. (Dev. Cell 2010) 3 23
  3. TRF1 mediates mitotic abnormalities induced by Aurora-A overexpression. (PMID: 20160025) Ohishi T. … Seimiya H. (Cancer Res. 2010) 3 23
  4. Ubiquitin ligase RLIM modulates telomere length homeostasis through a proteolysis of TRF1. (PMID: 19164295) Her Y.R. … Chung I.K. (J. Biol. Chem. 2009) 3 23
  5. Human PinX1 mediates TRF1 accumulation in nucleolus and enhances TRF1 binding to telomeres. (PMID: 19265708) Yoo J.E. … Park Y.N. (J. Mol. Biol. 2009) 3 23

Products for TERF1 Gene

Sources for TERF1 Gene

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