Tbio SMG6 Telomerase-binding protein EST1A

Protein Summary

Description

Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini (PubMed:19179534). May have a general role in telomere regulation (PubMed:12676087, PubMed:12699629). Promotes in vitro the ability of TERT to elongate telomeres (PubMed:12676087, PubMed:12699629). Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization (PubMed:12676087, PubMed:12699629). Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER) (PubMed:12676087, PubMed:12699629). Plays a role in nonsense-mediated mRNA decay (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). Is thought to provide a link to the mRNA degradation machinery as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]

Uniprot Accession IDs

• Q86US8
• B7Z874
• O94837
• Q86VH6
• Q9UF60

Gene Name

• SMG6

Ensembl ID

• ENST00000263073
• ENSP00000263073
• ENSG00000070366
• ENST00000354901
• ENSP00000346977
• ENST00000536871
• ENSP00000440283

Symbol

• C17orf31
• EST1A
• KIAA0732
• EST1A
• SMG-6
• C17orf31
• hSMG5/7a

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cellular component	0.81
histone modification site profile	0.81
protein domain	0.73
transcription factor binding site profile	0.72
drug perturbation	0.71

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 48.12   (req: < 5)

Gene RIFs: 19   (req: <= 3)

Antibodies: 65   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 48.12   (req: >= 5)

Gene RIFs: 19   (req: > 3)

Antibodies: 65   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0