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TRPM1

Chr 15q13.3

transient receptor potential cation channel subfamily M member 1

Aliases:
LTRPC1, CSNB1C
MANE:
ENST00000256552.11

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Glaucoma (developmental)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • congenital stationary night blindness

    0.69
  • Retinal dystrophy

    0.54
  • hereditary disease

    0.42
  • retinal disorder

    0.34
  • alcohol drinking

    0.30
  • Hypocalcemia

    0.29
  • actinic keratosis

    0.29
  • sunburn

    0.29
  • macular degeneration

    0.29
  • exocrine pancreatic carcinoma

    0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transient receptor potential cation channel subfamily M member 1

Constitutively open nonselective divalent cation-conducting channels which mediate the influx of Ca(2+), Mg(2+), Mn(2+), Ba(2+), and Ni(2+) into the cytoplasm, leading to membrane depolarization (PubMed:11535825, 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). Plays an essential role for the depolarizing photoresponse of retinal ON bipolar cells (PubMed:19878917, PubMed:19896109). In the dark, tonic release of glutamate activates the G protein-coupled receptor for glutamate, GRM6, its activation induces the release of G(o) protein and the beta-gamma G protein dimer. Both subunits can interact and inactivate the TRPM1 channel. A light onset, induces decrease in glutamate release and deactivation of GRM6 leading to channel opening and membrane depolarization (By similarity). May play a role in metastasis suppression (PubMed:9537257)

Curated MONDO disease pages that list TRPM1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.