CHML Gene Summary [Human]
The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CHML |
| Official Name | CHM like Rab escort protein [Source:HGNC Symbol;Acc:HGNC:1941] |
| Ensembl ID | ENSG00000203668 |
| Bio databases IDs | |
| Aliases | CHM like Rab escort protein, Rab escort protein 2 |
| Synonyms | CHM like Rab escort protein, choroideraemia-like, choroideremia-like, E030003F13Rik, LOC682080, Rab escort protein 2, REP-2 |
| 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 CHML 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
- enzyme binding
- enzyme
- 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.
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHML 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
- intracellular protein transport
Cellular Component
Where in the cell the gene product is active
- nucleus
- Rab-protein geranylgeranyltransferase complex
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- GDP-dissociation inhibitor activity
- GTPase activator activity
- small GTPase binding