Basic Information

Symbol
TERF1
RNA class
mRNA
Alias
Telomeric Repeat Binding Factor 1 PIN2 TRF1 TRF TRBF1 Telomeric Repeat Binding Factor (NIMA-Interacting) 1 Telomeric Repeat-Binding Factor 1 TTAGGG Repeat-Binding Factor 1 Telomeric Protein Pin2/TRF1 NIMA-Interacting Protein 2 HTRF1-AS T-TRF1
Location (GRCh38)
8:73008833-73048123
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Cause of death analysis Mechanical injury analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_017489.3
Sequence length
3329.0 nt
GC content
0.3815

Transcripts

ID Sequence Length GC content
NM_001413373.1 NCBI
AGUACCCAAGCGAGCCAUUUAACAUGGCGGAGGAUGUUUCCUCAGCGGC… 3344 nt 0.3777
NM_001413374.1 NCBI
AGUACCCAAGCGAGCCAUUUAACAUGGCGGAGGAUGUUUCCUCAGCGGC… 3262 nt 0.3811
NM_003218.4 NCBI
AGUACCCAAGCGAGCCAUUUAACAUGGCGGAGGAUGUUUCCUCAGCGGC… 3269 nt 0.3805
NM_017489.3 NCBI
AGUACCCAAGCGAGCCAUUUAACAUGGCGGAGGAUGUUUCCUCAGCGGC… 3329 nt 0.3815
Showing 11 to 14 of 14 entries
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 individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Multiple transcripts of this gene are alternatively spliced products. [provided by RefSeq, Aug 2022]

Forensic Context

A study in humans demonstrated that the TERF1 was downregulated as part of the inhibited telomere maintenance pathway in the lungs of patients who succumbed to septic shock, with this finding derived from RNA sequencing of post-mortem tissue samples [Pinheiro da Silva et al. DOI:10.1111/jcmm.17938]. A review of single-cell transcriptomics for forensic applications notes that in mice, the TERF1 is upregulated in oligodendrocytes after mild traumatic brain injury (mTBI) and is considered a potential indicator or prognostic marker for mTBI-induced cognitive impairments [Yang et al. DOI:10.1007/s00414-022-02889-9].