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FLASH GENE
Symbol TRPM1 contributors: mct/shn - updated : 14-06-2016
HGNC name transient receptor potential cation channel, subfamily M, member 1
HGNC id 7146
Corresponding disease
CSNB1C blindness night congenital, stationary 1C
Location 15q13.3      Physical location : 31.293.552 - 31.393.924
Synonym name
  • melastatin 1
  • melastatin-1
  • long transient receptor potential channel 1
  • transient receptor potential cation channel subfamily M member 1
  • transient receptor potential melastatin family
  • Synonym symbol(s) MLSN1, LTRPC1, MLSN, CSNB1C
    DNA
    TYPE functioning gene
    STRUCTURE 160.21 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • four consensus binding sites for MITF
  • 654 bp upstream sequence, containing four E boxes (E1-E4), including an 11 bp M box (E4), sufficient for melanocyte-specific transcription and activation by MITF
  • an exon (exon 11) that is present in all TRPM1 cDNA clones but has no corresponding homologous region neither in TRPM3 nor in any other TRPM channel encoding 57 amino acids in the N-terminal cytosolic region of TRPM1
  • MAPPING cloned Y linked N status provisional
    Map cen - D15S1043 - D15S165 - TRPM1 - D15S976 - D15S1013 - qter
    RNA
    TRANSCRIPTS type messenger
    text alternatively spliced, resulting in the production of a long form (TRPM1-L) and a short N-terminal form devoid of transmembrane segments (TRPM1-S) (PMID: 19966281)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 splicing 5724 - 1603 ON-bipolar cell dendrites and synaptic ribbons of a subclass of rods of the retinal (PMID:21896854) 2010 19966281
    28 splicing 5810 - 1625 - 2010 19966281
  • also called 92+TRPM1
  • contains 22 additional amino acids
  • 28 splicing 6022 - 1642 - 2010 19966281
  • also called 109+TRPM1 or TRPM1L
  • contains 39 additional amino acids
  • is a component of the transduction cation channel in the GRM6 cascade of retinal ON bipolar cells
  • 4 - 1002 - 136 - 2010 19966281
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnervecranial nerve  highly
    Reproductivemale systemtestis   
    Skin/Tegumentskin   highly Homo sapiens
    Visualeyeretina  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE) highly Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte Homo sapiens
    Visualbipolar cell Homo sapiens
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage melanoma cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ankyrin repeats at the N terminus, and basic N-terminal AA K464 of TRPM1 suggests that it is part of putative pleckstrin homology (PH) domain and is involved in the interactions with INPP5J
  • a core of six transmembrane segments (6TM)
  • a TRP (EWKFHR) domain
  • a small putative transmembrane domain
  • a larger domain with a hollow cavity
  • a C terminal cytoplasmic tail
  • mono polymer dimer
    HOMOLOGY
    interspecies ortholog to Mlsn1, mus musculus
    ortholog to Trpm1, Rattus norvegicus
    Homologene
    FAMILY
  • TRP-melastatin subfamily
  • CATEGORY antigen , receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text long form may be sequestered by MLN-S in the cytoplasm
  • located on the dendrites and soma of retina ON-bipolar cells
  • tips of retina ON-bipolar cell dendrites and rod spherules ribbons
  • basic FUNCTION
  • potential melanoma suppressor
  • involved in sensing taste, ambient temperature, low pH, osmolarity, and chemical ligands
  • role for TRPM1-mediated Ca(2+) homeostasis, which is also regulated by ultraviolet B, in melanogenesis
  • ion channel whose function is critical to normal melanocyte pigmentation
  • important role for the normal function of ON bipolar cells in the human retina
  • GRM6-coupled cation channel in rod-bipolar cells, and is essential for the normal response of cone ON-bipolar cells
  • functional ion-conducting plasma membrane channels
  • expressed on the synaptic ribbons of a subclass of rods, suggesting a dual function for TRPM1 in the ON-pathway
  • is a cation-selective channel, and will therefore depolarize ON bipolar cells when it opens
  • light indirectly opens TRPM1 by reducing transmitter release from presynaptic photoreceptors, resulting in a decrease in GRM6 activation
  • is not essential for development of hearing or balance and it is unlikely that TRPM1 is a component of the hair cell MET channel
  • is essential for the light-induced depolarization of retinal ON bipolar cells
  • the underlying transduction cascade in the dendritic tips of ON-bipolar cells involves GRM6 signaling to TRPM1 proteins that are an indispensable part of the transduction channel
  • calcium channel that is essential for the depolarization of photo-responsive retinal bipolar cells
  • in retinal ON bipolar cells, Go couples the metabotropic receptor GRM6 to the TRPM1 channel and closes it in the dark, thus hyperpolarizing the cell
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text ion transport
    PATHWAY
    metabolism
    signaling
    a component
  • TRPM1 and TRPM3 form heteromultimeric channels
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TRPM1
  • GNB3 participates in the G-protein heterotrimer that couples GRM6 to TRPM1
  • in the retina, TRPM1 activity is negatively coupled to metabotropic GRM6 signaling through Galphao
  • GPR179 along with RGS7 and RGS11 controls the ability of the GRM6 cascade to gate TRPM1
  • LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation
  • cell & other
    REGULATION
    activated by HIS1 (regulation of both transcription and mRNA processing)
    inhibited by by low micromolar concentrations of Zn2+
    Other downregulated in murine melanoma cell line with an agressive phenotype
    regulated by MITF
    regulated by multiple mechanisms in melanocytes and melanoma cells
    ASSOCIATED DISORDERS
    corresponding disease(s) CSNB1C
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in melanoma with high metastatic potential
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • potential target for pigmentation disorders
  • ANIMAL & CELL MODELS
  • decreased expression of TRPM1 in the eye and the skin may alter bipolar cell signaling as well as melanocyte function, thus causing both congenital stationary night blindness and coat spotting patterns in horses
  • ON bipolar cell function was absent or severely impaired in a mouse model that lacked Trpm1 expression