Human Gene TERF1 (uc003xzc.2) Description and Page Index
Description: Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1 (TERF1), transcript variant 2, mRNA. RefSeq Summary (NM_003218): 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]. Transcript (Including UTRs) Position: hg19 chr8:73,921,097-73,933,040 Size: 11,944 Total Exon Count: 4 Strand: +
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TERF1 CDC HuGE Published Literature: TERF1 Positive Disease Associations: anemia, aplastic Related Studies:
anemia, aplastic Savage, S. A. et al. 2006, Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia, Exp Hematol 2006 34(5) 664-71.
It is possible that a common genetic variant in TERF1 is associated with risk for AA but additional studies are required.
Press "+" in the title bar above to open this section.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.