Telomerase reverse transcriptase

From Wikipedia, the free encyclopedia

Identifiers

TERT; EST2; TCS1; TP2; TRT; hEST2

External IDs

OMIM: 187270 MGI: 1202709 HomoloGene: 31141

Gene ontology
Molecular Function:	• DNA binding • telomeric template RNA reverse transcriptase activity • RNA binding • protein binding • transferase activity • telomeric DNA binding
Cellular Component:	• chromosome, telomeric region • nucleus • chromosome • telomerase holoenzyme complex
Biological Process:	• telomere maintenance • RNA-dependent DNA replication

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_198253 (mRNA)
NP_937983 (protein)

NM_009354 (mRNA)
NP_033380 (protein)

Location

Chr 5: 1.31 - 1.35 Mb

Chr 13: 74.09 - 74.12 Mb

Pubmed search

[1]

[2]

Telomerase reverse transcriptase (abbreviated to TERT, or hTERT in humans) is a catalytic subunit of the enzyme telomerase.^[1] Its absence (usually as a result of a chromosomal mutation) is associated with the disorder Cri du chat.^[2]^[3]

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. 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. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity.^[4]

1 References
2 Further reading
3 See also
4 External links

[edit] References

^ Kirkpatrick KL, Mokbel K (2001). "The significance of human telomerase reverse transcriptase (hTERT) in cancer". Eur J Surg Oncol 27 (8): 754–60. doi:10.1053/ejso.2001.1151. PMID 11735173.
^ Zhang A, Zheng C, Hou M, Lindvall C, Li KJ, Erlandsson F, Björkholm M, Gruber A, Blennow E, Xu D (2003). "Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome". Am. J. Hum. Genet. 72 (4): 940–8. PMID 12629597.
^ Cerruti Mainardi P (2006). "Cri du Chat syndrome". Orphanet J Rare Dis 1: 33. doi:10.1186/1750-1172-1-33. PMID 16953888.
^ Entrez Gene: TERT telomerase reverse transcriptase.

[edit] Further reading

Mattson MP, Fu W, Zhang P (2001). "Emerging roles for telomerase in regulating cell differentiation and survival: a neuroscientist's perspective.". Mech. Ageing Dev. 122 (7): 659–71. PMID 11322991.
Castillo Ureta H, Barrera Saldaña HA, Martínez Rodríguez HG (2003). "[Telomerase: an enzyme with multiple applications in cancer research]". Rev. Invest. Clin. 54 (4): 342–8. PMID 12415959.
Janknecht R (2004). "On the road to immortality: hTERT upregulation in cancer cells.". FEBS Lett. 564 (1-2): 9–13. doi:10.1016/S0014-5793(04)00356-4. PMID 15094035.
Cristofari G, Sikora K, Lingner J (2007). "Telomerase unplugged.". ACS Chem. Biol. 2 (3): 155–8. doi:10.1021/cb700037c. PMID 17373762.
Beliveau A, Yaswen P (2007). "Soothing the watchman: telomerase reduces the p53-dependent cellular stress response.". Cell Cycle 6 (11): 1284–7. PMID 17534147.
Bellon M, Nicot C (2007). "Telomerase: a crucial player in HTLV-I-induced human T-cell leukemia.". Cancer genomics & proteomics 4 (1): 21–5. PMID 17726237.