COMMD1 Gene Summary [Human]
Enables several functions, including phosphatidylinositol-3,4-bisphosphate binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including Golgi to plasma membrane transport; negative regulation of protein localization to cell surface; and regulation of cellular protein metabolic process. Acts upstream of or within negative regulation of NF-kappaB transcription factor activity. Located in cytosol; endosome; and nucleoplasm. Part of Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Processed Transcript |
| Official Symbol | COMMD1 |
| Official Name | copper metabolism domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23024] |
| Ensembl ID | ENSG00000173163 |
| Bio databases IDs | |
| Aliases | copper metabolism domain containing 1, copper metabolism gene MURR1, COMM domain containing 1 |
| Synonyms | C2orf5, COMM domain containing 1, copper metabolism domain containing 1, MURR1, U2/Mu |
| 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 COMMD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- COMMD1 N-terminal domain
- phospholipid binding
- low-density lipoprotein receptor binding
- protein binding
- Commd
- identical protein binding
- phosphatidylinositol binding
- sodium channel inhibitor
- copper ion binding
- binding protein
- phosphatidylinositol-3,4,5-triphosphate binding
- phosphatidylinositol-4,5-bisphosphate binding
- protein homodimerization
- COMM domain
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- proliferative diabetic retinopathy
- nonalcoholic fatty liver disease
- Parkinson disease
- growth failure
- age-related nuclear cataract disorder
role in cell
- activation in
- binding in
- homeostasis in
- replication in
- degradation in
- association
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
- nuclear fraction
- Cytoplasm
- endosomes
- cytoplasmic aggregates
- cytosol
- nucleoplasm
- recycling endosomes
- early endosomes
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COMMD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of protein localization at cell surface
- negative regulation of NF-kappaB transcription factor activity
- protein transport
- positive regulation of protein ubiquitination
- Golgi to plasma membrane transport
- nucleotide-excision repair
- plasma membrane to endosome transport
- regulation of proteasomal ubiquitin-dependent protein catabolic process
- copper ion homeostasis
Cellular Component
Where in the cell the gene product is active
- nucleus
- early endosome
- endosome
- cytoplasm
- cytosol
- endosome membrane
- recycling endosome
- Cul2-RING ubiquitin ligase complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-3,4,5-trisphosphate binding
- phosphatidylinositol-4,5-bisphosphate binding
- identical protein binding
- protein homodimerization activity
- protein binding
- copper ion binding
- phosphatidylinositol-3,5-bisphosphate binding
- sodium channel inhibitor activity
- phosphatidic acid binding
- phosphatidylinositol-3,4-bisphosphate binding