SIL1 Gene Summary [Human]
This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SIL1 |
| Official Name | SIL1 nucleotide exchange factor [Source:HGNC Symbol;Acc:HGNC:24624] |
| Ensembl ID | ENSG00000120725 |
| Bio databases IDs | |
| Aliases | SIL1 nucleotide exchange factor |
| Synonyms | 1810057E01Rik, AJ299442, BAP, MSS, SIL1 nucleotide exchange factor, ULG5, wz |
| 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 SIL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- adenyl-nucleotide exchange factor
- protein binding
- identical protein binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Endoplasmic Reticulum
- rough endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SIL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cotranslational protein targeting to membrane
- protein folding
- intracellular protein transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- unfolded protein binding
- adenyl-nucleotide exchange factor activity