InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMG6

Summary

InnateDB Protein

IDBP-16048.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMG6

Protein Name

smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)

Synonyms

C17orf31; EST1A; hSMG5/7a; SMG-6;

Species

Homo sapiens

Ensembl Protein

ENSP00000263073

InnateDB Gene

IDBG-16046 (SMG6)

Protein Structure

UniProt Annotation

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)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER).Plays a role in nonsense-mediated mRNA decay. 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. Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA.

Subcellular Localization

Nucleus, nucleolus. Chromosome, telomere {ECO:0000305}. Cytoplasm, cytosol. Note=Particularly enriched in the nucleolus.

Disease Associations

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:12676087, ECO:0000269PubMed:12699629}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004521	endoribonuclease activity
GO:0005515	protein binding
GO:0042162	telomeric DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0000723	telomere maintenance
GO:0006406	mRNA export from nucleus
GO:0010467	gene expression
GO:0016070	RNA metabolic process
GO:0016071	mRNA metabolic process
GO:0035303	regulation of dephosphorylation
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic

Cellular Component

GO:0000781	chromosome, telomeric region
GO:0005634	nucleus
GO:0005697	telomerase holoenzyme complex
GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0035145	exon-exon junction complex