SMG1 Gene Summary [Human]
This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]
Details
| Type | Protein Coding |
| Official Symbol | SMG1 |
| Official Name | SMG1 nonsense mediated mRNA decay associated PI3K related kinase [Source:HGNC Symbol;Acc:HGNC:30045] |
| Ensembl ID | ENSG00000157106 |
| Bio databases IDs | |
| Aliases | SMG1 nonsense mediated mRNA decay associated PI3K related kinase, phosphatidylinositol 3-kinase-related kinase |
| Synonyms | 2610207I05RIK, 5430435M13RIK, 61E3.4, ATX, Ba-Ra5182, C130002K18Rik, KIAA0421, LIP, mKIAA0421, RGD1563508, SMG1 nonsense mediated mRNA decay associated PI3K related kinase, SMG1, nonsense mediated mRNA decay associated PI3K related kinase |
| Species | Human, Homo sapiens |
| Orthologies |
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 SMG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein serine/threonine kinase
- protein kinase
- Phosphatidylinositol 3- and 4-kinase
- Serine/threonine-protein kinase smg-1
- protein binding
- telomeric DNA binding
- FATC domain
- kinase
- kinase domain
- Phosphoinositide 3-kinase, catalytic domain
- Protein Kinases, catalytic domain
- protein kinase C
- Serine/threonine-protein kinase SMG1 N-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- uterine leiomyoma
- leiomyomatosis
- refractive error
- ductal breast carcinoma
- ductal breast cancer
role in cell
- apoptosis
- motility
- cell viability
- damage in
- replication in
- killing
- cell death
- degradation in
- josamycin sensitivity
- DNA damage response
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- cytosol
- sister chromatids
- nucleoplasm
- pseudopodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mRNA export from nucleus
- DNA repair
- nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
- phosphatidylinositol phosphorylation
- protein autophosphorylation
- response to DNA damage stimulus
- peptidyl-serine phosphorylation
- regulation of telomere maintenance
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatoid body
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- RNA binding
- protein binding
- metal ion binding
- telomeric DNA binding
- protein kinase activity
- protein serine/threonine kinase activity
- protein kinase C activity