TRPM1

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Transient receptor potential cation channel subfamily M member 1 is a protein that in humans is encoded by the TRPM1 gene.[5][6][7]

AliasesTRPM1, CSNB1C, LTRPC1, MLSN1, transient receptor potential cation channel subfamily M member 1
End31,161,273 bp[1]
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TRPM1
Identifiers
AliasesTRPM1, CSNB1C, LTRPC1, MLSN1, transient receptor potential cation channel subfamily M member 1
External IDsOMIM: 603576; MGI: 1330305; HomoloGene: 19940; GeneCards: TRPM1; OMA:TRPM1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001252020
NM_001252024
NM_001252030
NM_002420

NM_001039104
NM_018752

RefSeq (protein)

NP_001238949
NP_001238953
NP_001238959
NP_002411

NP_001034193
NP_061222

Location (UCSC)Chr 15: 31 – 31.16 MbChr 7: 63.8 – 63.92 Mb
PubMed search[3][4]
Wikidata
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Function

The protein encoded by this gene is a member of the transient receptor potential (TRP) family of non-selective cation channels. It is expressed in the retina, in a subset of bipolar cells termed ON bipolar cells.[8][9] These cells form synapses with either rods or cones, collecting signals from them. In the dark, the signal arrives in the form of the neurotransmitter glutamate, which is detected by a G protein-coupled receptor (GPCR) signal transduction cascade. Detection of glutamate by the GPCR Metabotropic glutamate receptor 6 results in closing of the TRPM1 channel. At the onset of light, glutamate release is halted and mGluR6 is deactivated; this results in opening of the TRPM1 channel, influx of sodium and calcium, and depolarization of the bipolar cell.[10][11]

In addition to the retina, TRPM1 is also expressed in melanocytes, which are melanin-producing cells in the skin. The expression of TRPM1 is inversely correlated with melanoma aggressiveness, suggesting that it might suppress melanoma metastasis.[12] However, subsequent work showed that a microRNA located in an intron of the TRPM1 gene, rather than the TRPM1 protein itself, is responsible for the tumor suppressor function.[13][14] The expression of both TRPM1 and the microRNA are regulated by the Microphthalmia-associated transcription factor.[15][16][17][13]

Clinical significance

Mutations in TRPM1 are associated with congenital stationary night blindness in humans [18][19][20][21] and coat spotting patterns in Appaloosa horses.[22]

See also

References

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