TRPM1: Transient Receptor Potential Cation Channel Subfamily M Member 1
Key regulator of retinal ON bipolar cell function and melanocyte biology
Gene Information Card
| Symbol | TRPM1 |
|---|---|
| Full Name | Transient Receptor Potential Cation Channel Subfamily M Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q13.3 |
| NCBI Gene ID | 4308 ncbi.nlm.nih.gov/gene/4308 |
| Ensembl ID | ENSG00000134160 |
| UniProt ID | Q7Z4N2 |
| OMIM ID | 603576 |
| HGNC ID | 7146 |
| Aliases | MLSN, LTRPC1, CSNB1C, melastatin-1 |
Description
TRPM1 (Transient Receptor Potential Cation Channel Subfamily M Member 1) encodes a member of the transient receptor potential (TRP) family of ion channels. The protein functions as a calcium-permeable cation channel that is essential for the depolarization of retinal ON bipolar cells in response to light. It is also expressed in melanocytes and is involved in melanocyte pigmentation and survival. Mutations in TRPM1 are associated with autosomal recessive congenital stationary night blindness type 1C (CSNB1C) and have been implicated in melanoma progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital stationary night blindness type 1C (CSNB1C) | Loss-of-function mutations in TRPM1 disrupt the ON bipolar cell response to light, leading to impaired night vision and normal day vision. | ClinVar, OMIM |
| Melanoma | TRPM1 expression is downregulated in metastatic melanoma compared to primary tumors, suggesting a role in tumor suppression. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 0.0 | Not detected (nTPM from GTEx; TRPM1 is highly expressed in retina but not in bulk RNA-seq of whole eye) |
| Skin | 0.0 | Not detected (nTPM from GTEx; expression is low in whole skin but present in melanocytes) |
| Brain - Cerebellum | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | Not expressed |
| SK-MEL-28 (melanoma) | 0.0 | Low or absent in many melanoma lines |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1139T>C (p.Leu380Pro) | Missense | Rare | Loss of channel function; associated with CSNB1C |
| c.1573C>T (p.Arg525*) | Nonsense | Rare | Premature truncation; loss of function; associated with CSNB1C |
| c.2005G>A (p.Gly669Arg) | Missense | Rare | Impaired trafficking to plasma membrane; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported pathogenic mutations in TRPM1 are loss-of-function, leading to reduced or absent calcium influx in retinal ON bipolar cells, causing CSNB1C.
Gain of Function (GOF)
No gain-of-function mutations have been reported in TRPM1.
Dominant Negative (DN)
No dominant-negative mutations have been described for TRPM1.
View complete mutation data：
Gene Ontology (GO)
| • calcium channel activity (GO:0005262) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) | • calcium ion transport (GO:0006816) |
| • integral component of membrane (GO:0016021) | • calcium ion transmembrane transport (GO:0070588) |
Pathways
• Phototransduction cascade (retinal ON bipolar cells)
• Melanocyte development and pigmentation pathway
Protein Summary
The TRPM1 protein is a calcium-permeable cation channel with six transmembrane domains and a long N-terminal cytoplasmic region. It is primarily expressed in retinal ON bipolar cells where it mediates the light-evoked depolarization via mGluR6 signaling. In melanocytes, TRPM1 regulates calcium homeostasis and pigmentation. The protein is also known as melastatin-1 and its expression is frequently lost in metastatic melanoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPM1 Knockout HEK293 Cell Line | EDJ-KQ4445 | Human | 4308 | Details Get a Quote |
| TRPM1 Knockout HeLa Cell Line | EDJ-KQ53880 | Human | 4308 | Details Get a Quote |
| TRPM1 Knockout A-549 Cell Line | EDJ-KQ62371 | Human | 4308 | Details Get a Quote |
| TRPM1 Knockout HCT 116 Cell Line | EDJ-KQ70840 | Human | 4308 | Details Get a Quote |
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