UniProt Protein Function: | Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to elongate telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)4GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER). |
NCBI Summary: | 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 Code: | Q86US8 |
NCBI GenInfo Identifier: | 378744173 |
NCBI Gene ID: | 23293 |
NCBI Accession: | NP_001243756.1 |
UniProt Secondary Accession: | Q86US8,O94837, Q86VH6, Q9UF60, B7Z874, |
UniProt Related Accession: | Q86US8 |
Molecular Weight: | 57,455 Da |
NCBI Full Name: | telomerase-binding protein EST1A isoform 3 |
NCBI Synonym Full Names: | SMG6, nonsense mediated mRNA decay factor |
NCBI Official Symbol: | SMG6 |
NCBI Official Synonym Symbols: | EST1A; SMG-6; C17orf31; hSMG5/7a |
NCBI Protein Information: | telomerase-binding protein EST1A |
UniProt Protein Name: | Telomerase-binding protein EST1A |
UniProt Synonym Protein Names: | EST1-like protein A; Ever shorter telomeres 1A; Smg-6 homolog; Telomerase subunit EST1A; hSmg5/7a |
Protein Family: | Telomerase-binding protein |
UniProt Gene Name: | SMG6 |