Basic Information

Symbol
SMG6
RNA class
mRNA
Alias
SMG6 Nonsense Mediated MRNA Decay Factor EST1A KIAA0732 C17orf31 SMG-6 Nonsense Mediated MRNA Decay Factor SMG6 Telomerase-Binding Protein EST1A Ever Shorter Telomeres 1A HEST1A Smg-6 Homolog, Nonsense Mediated MRNA Decay Factor (C. Elegans) EST1 Telomerase Component Homolog A (S. Cerevisiae) Smg-6 Homolog, Nonsense Mediated MRNA Decay Factor SMG6, Nonsense Mediated MRNA Decay Factor Chromosome 17 Open Reading Frame 31 EST1 Telomerase Component Homolog A Telomerase Subunit EST1A Smg-6 Homolog EC 3.1.2.15 EC 3.1.-.- EC 3.1.13 HSMG5/7a HSmg5/7a
Location (GRCh38)
17:2059839-2303785
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_017575.5
Sequence length
5974.0 nt
GC content
0.5526

Transcripts

ID Sequence Length GC content
NM_001256827.2 NCBI
GUCAGAAUUUCCAGGCCUUGGUUUGGUUUAGACAUUUUAGAAGAUGUUA… 3466 nt 0.5652
NM_001256828.1 NCBI
CUGAAAACUCCUUUAUCUUGAAUUUGUUCAAAAUUGCAGGAUACCGGGA… 3241 nt 0.5742
NM_001282326.2 NCBI
GGACAUUCUGCCUCUCAGUUUCUCCAUCUACUAAAGAGCUCAGACUGUG… 4239 nt 0.5572
NM_017575.5 NCBI
GUGGUGGUUUCCUGGCUGCGCGCGGCGGUGGCGGAGCCGCUACGGCUGU… 5974 nt 0.5526
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]

Forensic Context

No relevant information is available at the moment.