C330007P06Rik Gene Summary [Mouse]
Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in endoplasmic reticulum membrane organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and protein exit from endoplasmic reticulum. Located in cell body and nucleus. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 107. Orthologous to human STEEP1 (STING1 ER exit protein 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | C330007P06Rik |
| Official Name | RIKEN cDNA C330007P06 gene [Source:MGI Symbol;Acc:MGI:1924894] |
| Ensembl ID | ENSMUSG00000006423 |
| Bio databases IDs | |
| Aliases | RIKEN cDNA C330007P06 gene |
| Synonyms | C330007P06Rik, CXorf56, MRX107, RGD1564541, STEEP, STING1 ER exit protein 1, XLID107 |
| Species | Mouse, Mus musculus |
| 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 mouse C330007p06rik 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 binding activity, bridging
- 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
- X-linked intellectual developmental disorder type 107
- breast cancer
- organismal death
role in cell
- olaparib sensitivity
- homologous recombination repair in
- processing in
- AZD8186 resistance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- Nucleus
- centrosome
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- nucleoplasm
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse C330007p06rik gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ER to Golgi vesicle-mediated transport
- protein exit from endoplasmic reticulum
- endoplasmic reticulum membrane organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- centrosome
- cytoplasm
- cell body
- endoplasmic reticulum
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein binding, bridging