TRPM1 Gene Summary [Human]
This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
Details
| Type | Protein Coding |
| Official Symbol | TRPM1 |
| Official Name | transient receptor potential cation channel subfamily M member 1 [Source:HGNC Symbol;Acc:HGNC:7146] |
| Ensembl ID | ENSG00000134160 |
| Bio databases IDs | |
| Aliases | transient receptor potential cation channel subfamily M member 1 |
| Synonyms | 4732499L03Rik, CSNB1C, LTRPC1, MLSN1, rd15, transient receptor potential cation channel subfamily M member 1, transient receptor potential cation channel, subfamily M, member 1, Trpm1 predicted |
| 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 TRPM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tetramerization domain of TRPM
- Ion transport protein
- SLOG in TRPM
- calcium channel
- protein binding
- cation transporter
- ion channel
- cation channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- angioedema
- congenital stationary night blindness type 1C
- Alzheimer disease
- congenital stationary night blindness
- retinal dystrophy
- TRPM1-related retinopathy
- sunburn
- non-insulin-dependent diabetes mellitus
- colorectal carcinomagenesis
- age-related macular degeneration
role in cell
- differentiation
- number
- area
- size
- development
- response by
- morphology
- electrophysiology
- length
- excitation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- dendrite tip
- Endoplasmic Reticulum
- cell tip
- perikaryon
- axons
- dendrites
- postsynaptic density
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TRPM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to light stimulus
- protein tetramerization
- calcium ion transmembrane transport
- metal ion transport
- visual perception
- G-protein coupled glutamate receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- plasma membrane
- axon
Molecular Function
What the gene product does at the molecular level
- calcium channel activity