Version: 8.1.0
Date: Fri Apr 18 2025
TRPM1
Homo sapiensHGNC:7146
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
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
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

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

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          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

          TRPM1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection method
          Source
          Reference
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            Genetic Interactions

            TRPM1 role
            TRPM1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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