TRPM1

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.

Full Name

TRPM1 Gene(Protein Coding)

Transient Receptor Potential Cation Channel Subfamily M Member 1

Function

Forms nonselective divalent cation-conducting channels which mediate the influx of Na2+, Ca2+, Mg2+, Mn2+, Ba2+, and Ni2+ into the cytoplasm, leading to membrane depolarization (PubMed:19436059, PubMed:21278253).
Impermeable to zinc ions (PubMed:21278253).
In addition, forms heteromultimeric ion channels with TRPM3 which are permeable for calcium and zinc ions (PubMed:21278253).
Essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity).
May act as a spontaneously active, calcium-permeable plasma membrane channel.

Biological Process

Biological Process calcium ion import across plasma membrane Source:UniProtKB1 Publication
Biological Process calcium ion transmembrane transport Source:Reactome
Biological Process calcium ion transport into cytosol Source:GO_Central1 Publication
Biological Process cation transmembrane transport Source:GO_Central1 Publication
Biological Process cellular response to light stimulus Source:UniProtKB1 Publication
Biological Process G protein-coupled glutamate receptor signaling pathway Source:UniProtKB1 Publication
Biological Process protein tetramerization Source:InterPro
Biological Process visual perception Source:UniProtKB1 Publication

Cellular Location

Cell membrane
Endoplasmic reticulum membrane
Cell projection, axon

Involvement in disease

Night blindness, congenital stationary, 1C (CSNB1C):
A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

Topology

Cytoplasmic: 1-830
Helical: 831-851
Extracellular: 852-897
Helical: 898-918
Cytoplasmic: 919-928
Helical: 929-949
Extracellular: 950-961
Helical: 962-982
Cytoplasmic: 983-1054
Helical: 1055-1075
Extracellular: 1076-1105
Helical: 1106-1126
Cytoplasmic: 1127-1603