Telomerase RNA component

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TERC
PDB 1ymo EBI.png
Identifiers
AliasesTERC, DKCA1, PFBMFT2, SCARNA19, TR, TRC3, hTR, Telomerase RNA component
External IDsGeneCards: TERC
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for TERC
Genomic location for TERC
Band3q26.2Start169,764,610 bp[1]
End169,765,047 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)Chr 3: 169.76 – 169.77 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human
Vertebrate telomerase RNA
RF00024.jpg
Identifiers
SymbolTelomerase-vert
RfamRF00024
Other data
RNA typeGene
Domain(s)Eukaryote; Virus
SO{{{SO}}}
PDB structuresPDBe
Ciliate telomerase RNA
RF00025.jpg
Identifiers
SymbolTelomerase-cil
RfamRF00025
Other data
RNA typeGene
Domain(s)Eukaryote
SO{{{SO}}}
PDB structuresPDBe
Saccharomyces cerevisiae telomerase RNA
RF01050.png
Identifiers
SymbolSacc_telomerase
RfamRF01050
Other data
RNA typeGene
Domain(s)Eukaryote
SO{{{SO}}}
PDB structuresPDBe

Telomerase RNA component, also known as TERC, is an ncRNA found in eukaryotes that is a component of telomerase, the enzyme used to extend telomeres.[3][4] TERC serves as a template for telomere replication (reverse transcription) by telomerase. Telomerase RNAs differ greatly in sequence and structure between vertebrates, ciliates and yeasts, but they share a 5' pseudoknot structure close to the template sequence. The vertebrate telomerase RNAs have a 3' H/ACA snoRNA-like domain.[5][6][7]

Function[edit]

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. This repeat does vary across eukaryotes (see the table on the telomere article for a complete list). The enzyme consists of a protein component (TERT) with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. CCCUAA found near position 50 of the vertebrate TERC sequence acts as the template. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mice suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks.[8] Homologs of TERC can also be found in the Gallid herpes viruses.[9]

Clinical significance[edit]

Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia.[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000277925 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:".
  3. ^ Feng J, Funk WD, Wang SS, Weinrich SL, Avilion AA, Chiu CP, Adams RR, Chang E, Allsopp RC, Yu J (September 1995). "The RNA component of human telomerase". Science. 269 (5228): 1236–41. doi:10.1126/science.7544491. PMID 7544491.
  4. ^ Jády BE, Richard P, Bertrand E, Kiss T (February 2006). "Cell Cycle-dependent Recruitment of Telomerase RNA and Cajal Bodies to Human Telomeres". Mol. Biol. Cell. 17 (2): 944–54. doi:10.1091/mbc.E05-09-0904. PMC 1356602. PMID 16319170.
  5. ^ McCormick-Graham, M; Romero DP (1995). "Ciliate telomerase RNA structural features". Nucleic Acids Res. 23 (7): 1091&ndash, 1097. doi:10.1093/nar/23.7.1091. PMC 306816. PMID 7739888.
  6. ^ Lingner, J; Hendrick LL; Cech TR (1994). "Telomerase RNAs of different ciliates have a common secondary structure and a permuted template". Genes Dev. 8 (16): 1984&ndash, 1998. doi:10.1101/gad.8.16.1984. PMID 7958872.
  7. ^ Theimer CA, Feigon J (2006). "Structure and function of telomerase RNA". Curr. Opin. Struct. Biol. 16 (3): 307–18. doi:10.1016/j.sbi.2006.05.005. PMID 16713250.
  8. ^ a b "Entrez Gene: TERC telomerase RNA component".
  9. ^ Fragnet, L; Kut E; Rasschaert D (2005). "Comparative functional study of the viral telomerase RNA based on natural mutations". J Biol Chem. 280 (25): 23502&ndash, 23515. doi:10.1074/jbc.M501163200. PMID 15811851.

Further reading[edit]

External links[edit]