TRPC1: Transient Receptor Potential Cation Channel Subfamily C Member 1
A key calcium-permeable cation channel involved in store-operated calcium entry, cell growth, and muscle function.
Gene Information Card
| Symbol | TRPC1 |
|---|---|
| Full Name | Transient Receptor Potential Cation Channel Subfamily C Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q22.3 |
| NCBI Gene ID | 7220 ncbi.nlm.nih.gov/gene/7220 |
| Ensembl ID | ENSG00000144935 |
| UniProt ID | P48995 |
| OMIM ID | 602343 |
| HGNC ID | 12333 |
| Aliases | TRP1, HTRP-1, MGC133334 |
Description
TRPC1 (Transient Receptor Potential Cation Channel Subfamily C Member 1) encodes a member of the canonical transient receptor potential (TRPC) family of ion channels. The protein forms a non-selective calcium-permeable cation channel that is activated by phospholipase C-coupled receptors and contributes to store-operated calcium entry (SOCE). TRPC1 is widely expressed and plays roles in cell proliferation, differentiation, muscle function, and neuronal signaling. Dysregulation of TRPC1 has been implicated in muscular dystrophies, cancer, and cardiovascular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 | Impaired calcium homeostasis in muscle cells due to TRPC1 loss-of-function mutations | ClinVar, OMIM |
| Cancer (various types) | Altered TRPC1 expression promotes proliferation, migration, and invasion via aberrant calcium signaling | COSMIC, NCBI |
| Cardiovascular disease | TRPC1-mediated calcium influx affects vascular smooth muscle cell function and cardiac hypertrophy | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Skeletal Muscle | 15.2 | Medium |
| Lung | 6.1 | Low |
| Kidney | 9.8 | Low |
| Liver | 4.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.7 | High expression in recombinant systems |
| SH-SY5Y | 11.2 | Neuronal cell line, moderate expression |
| A549 | 7.8 | Lung carcinoma, low expression |
| MCF7 | 9.1 | Breast cancer, moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1265C>T (p.Thr422Ile) | Missense | 0.01% | Reduced channel activity; associated with limb-girdle muscular dystrophy |
| c.1873G>A (p.Gly625Arg) | Missense | 0.005% | Loss of function; reported in ClinVar |
| c.234+1G>A | Splice donor | <0.001% | Predicted to disrupt splicing; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Thr422Ile, p.Gly625Arg) reduce calcium influx and impair SOCE, linked to muscular dystrophy.
Gain of Function (GOF)
Not well-documented; some cancer-associated variants may increase channel activity, but evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported for TRPC1.
View complete mutation data：
Gene Ontology (GO)
| • calcium channel activity (GO:0005262) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • calcium ion transmembrane transport (GO:0070588) | • calcium ion transport (GO:0006816) |
Pathways
• Store-operated calcium entry (SOCE)
• Calcium signaling pathway (KEGG: hsa04020)
• Phospholipase C signaling
Protein Summary
TRPC1 is a 793-amino acid protein with six transmembrane domains, a pore-forming region, and intracellular N- and C-termini. It functions as a homomeric or heteromeric channel, often associating with TRPC4, TRPC5, or STIM1 to mediate calcium entry. The protein is essential for maintaining calcium homeostasis in excitable and non-excitable cells. Post-translational modifications include glycosylation and phosphorylation, which modulate channel activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPC1 Knockout HEK293 Cell Line | EDJ-KQ5966 | Human | 7220 | Details Get a Quote |
| TRPC1 Knockout A-549 Cell Line | EDJ-KQ29537 | Human | 7220 | Details Get a Quote |
| TRPC1 Knockout HCT 116 Cell Line | EDJ-KQ29538 | Human | 7220 | Details Get a Quote |
| TRPC1 Knockout HeLa Cell Line | EDJ-KQ29539 | Human | 7220 | Details Get a Quote |
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