Chm Gene Summary [Mouse]
Predicted to enable enzyme-substrate adaptor activity and small GTPase binding activity. Acts upstream of or within blood vessel development. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytosol and nucleus. Is expressed in urethra. Used to study choroideremia. Human ortholog(s) of this gene implicated in choroideremia. Orthologous to human CHM (CHM Rab escort protein). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Chm |
| Official Name | choroidermia (RAB escort protein 1) [Source:MGI Symbol;Acc:MGI:892979] |
| Ensembl ID | ENSMUSG00000025531 |
| Bio databases IDs | |
| Aliases | choroidermia (RAB escort protein 1) |
| Synonyms | CHM Rab escort protein, choroideraemia, DXS540, FLJ38564, GGTA, HSD-32, REP-1, TCD |
| 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 Chm often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- binding protein
- protein binding activity, bridging
- enzyme binding
- enzyme
- protein binding
- RAB-protein geranylgeranyltransferase
- GDP dissociation inhibitor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- testicular neoplasm
- retinal dystrophy
- choroideremia
- retinitis pigmentosa
- chorioallantoic membrane fusion failure
- choroideremia with deafness and obesity
- preeclampsia
- Salla type choroideremia
- cleft palate
role in cell
- number
- accumulation in
- quantity
- abnormal morphology
- degeneration
- electrophysiology
- disorganization
- degradation
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
- cytosol
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Chm gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vesicle-mediated transport
- small GTPase mediated signal transduction
- protein geranylgeranylation
- visual perception
- intracellular protein transport
- protein targeting to membrane
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- Rab-protein geranylgeranyltransferase complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- GDP-dissociation inhibitor activity
- protein binding
- GTPase activator activity
- small GTPase binding
- Rab geranylgeranyltransferase activity