TERF1: Telomeric Repeat Binding Factor 1
A key component of the shelterin complex regulating telomere length and stability
Gene Information Card
| Symbol | TERF1 |
|---|---|
| Full Name | Telomeric Repeat Binding Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.11 |
| NCBI Gene ID | 7013 ncbi.nlm.nih.gov/gene/7013 |
| Ensembl ID | ENSG00000147601 |
| UniProt ID | P54274 |
| OMIM ID | 600951 |
| HGNC ID | 11728 |
| Aliases | TRF1, PIN2, TRF1-AS, hTRF1-AS |
Description
TERF1 encodes telomeric repeat binding factor 1, a component of the shelterin complex that binds to telomeric double-stranded DNA repeats (TTAGGG). It regulates telomere length by inhibiting telomerase access and protecting chromosome ends from degradation and fusion. TERF1 also interacts with other shelterin proteins (e.g., TINF2, POT1) and is involved in telomere capping and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic Pulmonary Fibrosis (IPF) | TERF1 mutations may disrupt telomere length regulation, leading to premature telomere shortening and cellular senescence in lung epithelium. | ClinVar; PMID: 25848748 |
| Dyskeratosis Congenita | Altered TERF1 function contributes to telomere maintenance defects, causing bone marrow failure and skin abnormalities. | OMIM; PMID: 23901009 |
| Cancer (various) | TERF1 overexpression or mutation can promote telomere elongation and genomic instability, facilitating tumorigenesis. | COSMIC; PMID: 21536682 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Lung | 6.1 | Low |
| Heart | 5.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical carcinoma |
| A549 | 10.1 | Lung adenocarcinoma |
| HEK293 | 9.8 | Embryonic kidney |
| K562 | 7.5 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Reduced DNA binding affinity; associated with IPF |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; telomere uncapping |
| c.890A>G (p.Asn297Ser) | Missense | 0.02% | Altered protein stability; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing telomere binding and shelterin complex assembly.
Gain of Function (GOF)
Missense mutations that increase TERF1 stability or binding affinity, potentially leading to excessive telomere shortening.
Dominant Negative (DN)
Mutations that disrupt dimerization or interaction with other shelterin components, interfering with wild-type function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Telomere Maintenance (Reactome: R-HSA-171306)
• Packaging Of Telomere Ends (Reactome: R-HSA-171306)
• Senescence-Associated Secretory Phenotype (SASP) (Reactome: R-HSA-2559582)
Protein Summary
TERF1 (TRF1) is a 439-amino acid protein containing an N-terminal acidic domain, a central TRFH (TRF homology) dimerization domain, and a C-terminal Myb-type DNA-binding domain. It forms homodimers and binds specifically to double-stranded TTAGGG repeats. TERF1 recruits other shelterin components (e.g., TIN2, POT1) to telomeres and negatively regulates telomerase activity. Post-translational modifications include phosphorylation by ATM and ATR kinases, influencing telomere damage responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TERF1 Knockout HEK293 Cell Line | EDJ-KQ50684 | Human | 7013 | Details Get a Quote |
| TERF1 Knockout HeLa Cell Line | EDJ-KQ54640 | Human | 7013 | Details Get a Quote |
| TERF1 Knockout A-549 Cell Line | EDJ-KQ63122 | Human | 7013 | Details Get a Quote |
| TERF1 Knockout HCT 116 Cell Line | EDJ-KQ71594 | Human | 7013 | Details Get a Quote |
