Gene Gene information from NCBI Gene database.
Entrez ID 7013
Gene name Telomeric repeat binding factor 1
Gene symbol TERF1
Synonyms (NCBI Gene)
PIN2TRBF1TRFTRF1hTRF1-ASt-TRF1
Chromosome 8
Chromosome location 8q21.11
Summary 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
miRNA miRNA information provided by mirtarbase database.
362
miRTarBase ID miRNA Experiments Reference
MIRT004234 hsa-miR-346 Microarray 16822819
MIRT051641 hsa-let-7e-5p CLASH 23622248
MIRT714778 hsa-miR-508-5p HITS-CLIP 19536157
MIRT714777 hsa-miR-3664-5p HITS-CLIP 19536157
MIRT714776 hsa-miR-6849-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ATM Repression 17694070
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000723 Process Telomere maintenance IEA
GO:0000723 Process Telomere maintenance IMP 24415760
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000781 Component Chromosome, telomeric region IDA 9034193, 9391075, 11313893, 15133513, 15380063, 19487455, 21119197, 23685356, 24270157, 24415760
GO:0000781 Component Chromosome, telomeric region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600951 11728 ENSG00000147601
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54274
Protein name Telomeric repeat-binding factor 1 (NIMA-interacting protein 2) (TTAGGG repeat-binding factor 1) (Telomeric protein Pin2/TRF1)
Protein 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 len
PDB 1BA5 , 1H6O , 1ITY , 1IV6 , 1W0T , 3BQO , 3L82 , 5HKP , 5WIR , 5XUP , 8F0A , 8F0U , 8F1T , 8F1U , 8F21 , 8F26 , 8OX1 , 8W8G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08558 TRF 74 270 Telomere repeat binding factor (TRF) Domain
PF00249 Myb_DNA-binding 380 428 Myb-like DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed and ubiquitous. Isoform Pin2 predominates.
Sequence
MAEDVSSAAPSPRGCADGRDADPTEEQMAETERNDEEQFECQELLECQVQVGAPEEEEEE
EEDAGLVAEAEAVAAGWMLDFLCLSLCRAFRDGRSEDFRRTRNSAEAIIHGLSSLTACQL
RTIYICQFLTRIAAGKTLDAQFENDERITPLESALMIWGSIEKEHDKLHEEIQNLIKIQA
IAVCMENGNFKEAEEVFERIFGDPNSHMPFKSKLLMIISQKDTFHSFFQHFSYNHMMEKI
KSYVNYVLSEKSSTFLMKAAAKVVESKRTR
TITSQDKPSGNDVEMETEANLDTRKSVSDK
QSAVTESSEGTVSLLRSHKNLFLSKLQHGTQQQDLNKKERRVGTPQSTKKKKESRRATES
RIPVSKSQPVTPEKHRARKRQAWLWEEDKNLRSGVRKYGEGNWSKILLHYKFNNRTSVML
KDRWRTMK
KLKLISSDSED
Sequence length 439
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Packaging Of Telomere Ends
Telomere Extension By Telomerase
DNA Damage/Telomere Stress Induced Senescence
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GASTROESOPHAGEAL REFLUX DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 11123427, 11179492
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11179492
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 11179492
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 16786598
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia LHGDN 16786598
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 23708666 Associate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 28162998
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 16647572 Associate
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 16647572
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 40035723 Associate
★☆☆☆☆
Found in Text Mining only