Gene

TRPM1

Species
Homo sapiens
Symbol
TRPM1
Name
transient receptor potential cation channel subfamily M member 1
Synonyms
  • CSNB1C
  • long transient receptor potential channel 1
Biotype
protein coding gene
Automated Description
Enables calcium channel activity. Involved in several processes, including G protein-coupled glutamate receptor signaling pathway; calcium ion import across plasma membrane; and visual perception. Located in endoplasmic reticulum. Implicated in congenital stationary night blindness and congenital stationary night blindness 1C.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13800
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
31.02M31.04M31.06M31.08M31.10M31.12M31.14M31.16M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions