SMG7 Gene Summary [Human]

This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]

Details

Type
Nonsense Mediated Decay
Official Symbol
SMG7
Official Name
SMG7 nonsense mediated mRNA decay factor [Source:HGNC Symbol;Acc:HGNC:16792]
Ensembl ID
ENSG00000116698
Bio databases IDs NCBI: 9887 Ensembl: ENSG00000116698
Aliases SMG7 nonsense mediated mRNA decay factor, EST1 telomerase component homolog C (S. cerevisiae)
Synonyms 9430023P16Rik, C1orf16, EST1C, Hs.270775, mKIAA0250, RGD1310761, SGA56M, SMG7 nonsense mediated mRNA decay factor
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SMG7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Telomerase activating protein Est1
  • Est1 DNA/RNA binding domain
  • protein phosphatase binding
  • protein binding
  • telomeric DNA binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • rheumatoid arthritis
  • systemic lupus erythematosus
  • myositis
  • celiac disease
regulated by
  • dihydrotestosterone
  • OTX2
  • IL4
  • 2-amino-5-phosphonovaleric acid
  • UPF1
  • P-TEFb
  • ethyl 2-{[(6,7-dimethyl-3-oxo-1,2,3,4-tetrahydro-2-quinoxalinyl)acetyl]amino}-4,5-dimethyl-3-thiophenecarboxylate
  • CD40LG
regulates
role in cell
  • josamycin sensitivity

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • Cytoplasm
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SMG7 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • mRNA export from nucleus
  • nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
  • regulation of dephosphorylation

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasm
  • cytosol
  • telomerase holoenzyme complex

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • telomeric RNA binding
  • telomeric DNA binding
  • protein phosphatase 2A binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.