Biology:TRPM1

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Transient receptor potential cation channel subfamily M member 1 is a protein that in humans is encoded by the TRPM1 gene.[1][2][3]

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.[4][5] 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.[6][7]

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.[8] 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.[9][10] The expression of both TRPM1 and the microRNA are regulated by the Microphthalmia-associated transcription factor.[11][12][13][9]

Clinical significance

Mutations in TRPM1 are associated with congenital stationary night blindness in humans [14][15][16][17] and coat spotting patterns in Appaloosa horses.[18]

See also

References

  1. ↑ "Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1)". Genomics 54 (1): 116–23. Nov 1998. doi:10.1006/geno.1998.5549. PMID 9806836. 
  2. ↑ "Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis". Cancer Research 58 (7): 1515–20. Apr 1998. PMID 9537257. 
  3. ↑ "International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels". Pharmacological Reviews 57 (4): 427–50. Dec 2005. doi:10.1124/pr.57.4.6. PMID 16382100. 
  4. ↑ "TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells". Proc Natl Acad Sci U S A 106 (45): 19174–8. 2009. doi:10.1073/pnas.0908711106. PMID 19861548. Bibcode: 2009PNAS..10619174M. 
  5. ↑ "TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade". Proc Natl Acad Sci U S A 107 (1): 332–7. 2010. doi:10.1073/pnas.0912730107. PMID 19966281. Bibcode: 2010PNAS..107..332K. 
  6. ↑ "The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease". Annu Rev Vis Sci 3: 25–51. 2017. doi:10.1146/annurev-vision-102016-061338. PMID 28715957. 
  7. ↑ "Properties and functions of TRPM1 channels in the dendritic tips of retinal ON-bipolar cells". Eur J Cell Biol 94 (7–9): 420–7. 2015. doi:10.1016/j.ejcb.2015.06.005. PMID 26111660. 
  8. ↑ "Entrez Gene: TRPM1 transient receptor potential cation channel, subfamily M, member 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4308. 
  9. ↑ 9.0 9.1 "Intronic miR-211 assumes the tumor suppressive function of its host gene in melanoma". Mol Cell 40 (5): 841–9. 2010. doi:10.1016/j.molcel.2010.11.020. PMID 21109473. 
  10. ↑ "Role of TRPM in melanocytes and melanoma". Exp Dermatol 21 (9): 650–4. 2012. doi:10.1111/j.1600-0625.2012.01565.x. PMID 22897572. 
  11. ↑ "Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma". Cancer Research 64 (2): 509–16. Jan 2004. doi:10.1158/0008-5472.CAN-03-2440. PMID 14744763. 
  12. ↑ "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research 21 (6): 665–76. Dec 2008. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  13. ↑ "The regulation of miRNA-211 expression and its role in melanoma cell invasiveness". PLOS ONE 5 (11): e13779. 2010. doi:10.1371/journal.pone.0013779. PMID 21072171. Bibcode: 2010PLoSO...513779M. 
  14. ↑ "TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness". American Journal of Human Genetics 85 (5): 720–9. Nov 2009. doi:10.1016/j.ajhg.2009.10.013. PMID 19896113. 
  15. ↑ "Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans". American Journal of Human Genetics 85 (5): 711–9. Nov 2009. doi:10.1016/j.ajhg.2009.10.003. PMID 19878917. 
  16. ↑ "TRPM1 mutations are associated with the complete form of congenital stationary night blindness". Molecular Vision 16: 425–37. 2010. PMID 20300565. 
  17. ↑ "Mutations in TRPM1 are a common cause of complete congenital stationary night blindness". American Journal of Human Genetics 85 (5): 730–6. Nov 2009. doi:10.1016/j.ajhg.2009.10.012. PMID 19896109. 
  18. ↑ "Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)". Genetics 179 (4): 1861–70. Aug 2008. doi:10.1534/genetics.108.088807. PMID 18660533. 

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.




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