NSMCE3 Gene Summary [Human]
The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]
Details
| Type | Protein Coding |
| Official Symbol | NSMCE3 |
| Official Name | NSE3 homolog, SMC5-SMC6 complex component [Source:HGNC Symbol;Acc:HGNC:7677] |
| Ensembl ID | ENSG00000185115 |
| Bio databases IDs | |
| Aliases | NSE3 homolog, SMC5-SMC6 complex component |
| Synonyms | 5730494G16RIK, HCA4, LICS, MAGEG1, MAGE-G1 antigen, MAGEL3, NDNL2, Necdin-like protein 2, NSE3, NSE3 homolog, SMC5-SMC6 complex component |
| 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 NSMCE3 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 dimerization
- MAGE homology domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lung disease, immunodeficiency, and chromosome breakage syndrome
phenotypes
- LUNG DISEASE IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME
- DISTINCT DNA BREAKAGE SYNDROME
role in cell
- proliferation
- apoptosis
- colony formation
- response by
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
- nuclear fraction
- Cytoplasm
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NSMCE3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- DNA repair
- protein sumoylation
- double-strand break repair via homologous recombination
- cellular response to UV
- positive regulation of protein ubiquitination
- cellular response to hydroxyurea
- cellular response to radiation
- regulation of telomere maintenance
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- cytoplasm
- Smc5-Smc6 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein dimerization activity