EST2 telomerase reverse transcriptase [Saccharomyces cerevisiae S288C] - Gene

Summary

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Official Symbol: EST2
Official Full Name: telomerase reverse transcriptase
Primary source: SGD:S000004310
Locus tag: YLR318W
See related: AllianceGenome:SGD:S000004310; FungiDB:YLR318W; VEuPathDB:YLR318W
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Saccharomyces cerevisiae S288C (strain: S288C)
Lineage: Eukaryota; Fungi; Dikarya; Ascomycota; Saccharomycotina; Saccharomycetes; Saccharomycetales; Saccharomycetaceae; Saccharomyces
Summary: Enables telomeric DNA binding activity. Contributes to telomerase activity. Involved in telomere maintenance via telomerase. Located in nucleolus. Part of telomerase catalytic core complex. Human ortholog(s) of this gene implicated in several diseases, including autosomal dominant dyskeratosis congenita 2; carcinoma (multiple); gastrointestinal stromal tumor; leukemia (multiple); and melanoma (multiple). Orthologous to human TERT (telomerase reverse transcriptase). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

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See EST2 in Genome Data Viewer

Location:: chromosome: XII

Exon count:: 1

Sequence:: Chromosome: XII; NC_001144.5 (766542..769196)

Chromosome XII - NC_001144.5 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_001144.5

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Binding of the purified TEN domain (residues 1-161) of Est2 to telomeric DNA is enhanced by the E76K mutation.
Title: A mutation in the catalytic subunit of yeast telomerase alters primer-template alignment while promoting processivity and protein-DNA binding.
The tricotetrapeptide repeat of Est1 is required for Est2-mediated telomere length maintenance.
Title: The TPR-containing domain within Est1 homologs exhibits species-specific roles in telomerase interaction and telomere length homeostasis.
Stimulation of yeast telomerase activity by the ever shorter telomere 3 (Est3) subunit is dependent on direct interaction with the catalytic protein Est2.
Title: Stimulation of yeast telomerase activity by the ever shorter telomere 3 (Est3) subunit is dependent on direct interaction with the catalytic protein Est2.
Maintenance of functional levels of Est2p late in the cell cycle requires that Est1p.
Title: Two pathways recruit telomerase to Saccharomyces cerevisiae telomeres.
Est2p can directly or indirectly influence the binding of Rap1p to telomeric DNA, implicating telomerase in roles both upstream and downstream of Rap1p in telomere length homeostasis.
Title: Yeast Est2p affects telomere length by influencing association of Rap1p with telomeric chromatin.
specific amino acids within region I of the catalytic subunit of telomerase play a previously unanticipated role in the response to Tel1p regulation at the telomere
Title: Regulation of telomere length by an N-terminal region of the yeast telomerase reverse transcriptase.
in the presence of manganese, both yeast and human telomerase can switch to a template- and RNA-independent mode of DNA synthesis, acting in effect as a terminal transferase.
Title: Telomerase can act as a template- and RNA-independent terminal transferase.
the finger subdomain of Est2p facilitates the action of Pif1p at telomeres.
Title: The finger subdomain of yeast telomerase cooperates with Pif1p to limit telomere elongation.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Orthologs from OrthoDB

Gene Ontology Provided by SGD

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA polymerase activity	IEA Inferred from Electronic Annotation more info
enables RNA-directed DNA polymerase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables telomerase RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables telomerase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to telomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables telomerase activity	IEA Inferred from Electronic Annotation more info
enables telomerase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in telomere maintenance	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance via telomerase	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of telomerase catalytic core complex	IBA Inferred from Biological aspect of Ancestor more info
part_of telomerase catalytic core complex	IDA Inferred from Direct Assay more info	PubMed
part_of telomerase holoenzyme complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: telomerase reverse transcriptase

NP_013422.2

EC 2.7.7.49

Reverse transcriptase subunit of the telomerase holoenzyme; essential for telomerase core catalytic activity, involved in other aspects of telomerase assembly and function; mutations in human homolog are associated with aplastic anemia

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NC_001144.5 Reference assembly

Range

766542..769196

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001182207.2 → NP_013422.2 TPA: telomerase reverse transcriptase [Saccharomyces cerevisiae S288C]

See identical proteins and their annotated locations for NP_013422.2

Status: REVIEWED

UniProtKB/Swiss-Prot

D6VYW1, Q06163

UniProtKB/TrEMBL

E9P8M3, N1P740

Conserved Domains (2) summary

smart00975
Location:282 → 413

Telomerase_RBD; Telomerase ribonucleoprotein complex - RNA binding domain

cd01648
Location:623 → 725

TERT; Telomerase reverse transcriptase (TERT). Telomerase is a ribonucleoprotein (RNP) that synthesizes telomeric DNA repeats. The telomerase RNA subunit provides the template for synthesis of these repeats. The catalytic subunit of RNP is known as telomerase ...