Aliases for TERF1 Gene
External Ids for TERF1 Gene
Previous HGNC Symbols for TERF1 Gene
Previous GeneCards Identifiers 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.