SEM1 Gene Summary [Human]
The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | SEM1 |
| Official Name | SEM1 26S proteasome complex subunit [Source:HGNC Symbol;Acc:HGNC:10845] |
| Ensembl ID | ENSG00000127922 |
| Bio databases IDs | |
| Aliases | SEM1 26S proteasome complex subunit, SEM1 26S proteasome subunit, deleted in split-hand/foot 1 |
| Synonyms | C7orf76, DSS1, ECD, FLJ42280, LOC100506136, LOC679014, PSMD15, SEM1, 26S proteasome complex subunit, SEM1 26S proteasome subunit, SHFD1, SHFDG1, Shfg, SHFM1, SHSF1 |
| 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 SEM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- peptidase
- 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
- osteoporosis
- fracture of bone
- bone disorder
regulates
role in cell
- proliferation
- survival
- formation
- homologous recombination in
- transformation
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SEM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mRNA export from nucleus
- proteasomal ubiquitin-dependent protein catabolic process
- double-strand break repair via homologous recombination
- proteasome assembly
Cellular Component
Where in the cell the gene product is active
- cytosol
- macromolecular complex
- proteasome complex
- proteasome regulatory particle, lid subcomplex
- integrator complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding