SMG6 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0032204Biological processregulation of telomere maintenance
GO_0051972Biological processregulation of telomerase activity
GO_0000184Biological processnuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO_0006406Biological processmRNA export from nucleus
GO_1904354Biological processnegative regulation of telomere capping
GO_0032210Biological processregulation of telomere maintenance via telomerase
GO_0035303Biological processregulation of dephosphorylation
GO_0005730Cellular componentnucleolus
GO_0035145Cellular componentexon-exon junction complex
GO_0005697Cellular componenttelomerase holoenzyme complex
GO_0005829Cellular componentcytosol
GO_0005737Cellular componentcytoplasm
GO_0000781Cellular componentchromosome, telomeric region
GO_0005634Cellular componentnucleus
GO_0004521Molecular functionRNA endonuclease activity
GO_0070182Molecular functionDNA polymerase binding
GO_0042162Molecular functiontelomeric DNA binding
GO_0043021Molecular functionribonucleoprotein complex binding
GO_0046872Molecular functionmetal ion binding
GO_0003723Molecular functionRNA binding
GO_0070034Molecular functiontelomerase RNA binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameSMG6
Protein nameSMG6 nonsense mediated mRNA decay factor
Telomerase-binding protein EST1A (EC 3.1.-.-) (Ever shorter telomeres 1A) (hEST1A) (Nonsense mediated mRNA decay factor SMG6) (Smg-6 homolog) (hSmg5/7a)
SynonymsC17orf31
KIAA0732
EST1A
DescriptionFUNCTION: 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) . .; FUNCTION: 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 . .

AccessionsI3L1W8
ENST00000572369.5
K7EKV2
ENST00000354901.8 [Q86US8-3]
I3L355
ENST00000570606.5
ENST00000575176.5
I3L176
ENST00000536871.6 [Q86US8-3]
ENST00000570668.1
ENST00000571442.5
K7ELM2
ENST00000570659.5
Q86US8
I3L390
ENST00000263073.11 [Q86US8-1]
I3L421
ENST00000575663.5
K7ENH7
ENST00000572205.5
ENST00000575454.1
I3L3A9