TRPM1

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Transient receptor potential cation channel, subfamily M, member 1
Identifiers
Symbols TRPM1 ; CSNB1C; LTRPC1; MLSN1
External IDs OMIM603576 MGI1330305 HomoloGene19940 IUPHAR: TRPM1 GeneCards: TRPM1 Gene
RNA expression pattern
PBB GE TRPM1 206479 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4308 17364
Ensembl ENSG00000134160 ENSMUSG00000030523
UniProt Q7Z4N2 Q2TV84
RefSeq (mRNA) NM_001252020 NM_001039104
RefSeq (protein) NP_001238949 NP_001034193
Location (UCSC) Chr 15:
31.29 – 31.45 Mb
Chr 7:
64.15 – 64.27 Mb
PubMed search [1] [2]

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[edit]

The protein encoded by this gene is a member of the transient receptor potential (TRP) family of non-selective cation channels. The expression of this protein is inversely correlated with melanoma aggressiveness, suggesting that it suppresses melanoma metastasis.[4] The expression of the TRPM1 gene is regulated by the Microphthalmia-associated transcription factor.[5][6]

Clinical significance[edit]

Mutations in TRPM1 are associated with congenital stationary night blindness in humans [7][8][9][10] and coat spotting patterns in Appaloosa horses.[11]

See also[edit]

References[edit]

  1. ^ Hunter JJ, Shao J, Smutko JS, Dussault BJ, Nagle DL, Woolf EA, Holmgren LM, Moore KJ, Shyjan AW (Jan 1999). "Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1)". Genomics 54 (1): 116–23. doi:10.1006/geno.1998.5549. PMID 9806836. 
  2. ^ Duncan LM, Deeds J, Hunter J, Shao J, Holmgren LM, Woolf EA, Tepper RI, Shyjan AW (Apr 1998). "Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis". Cancer Res 58 (7): 1515–20. PMID 9537257. 
  3. ^ Clapham DE, Julius D, Montell C, Schultz G (Dec 2005). "International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels". Pharmacol Rev 57 (4): 427–50. doi:10.1124/pr.57.4.6. PMID 16382100. 
  4. ^ "Entrez Gene: TRPM1 transient receptor potential cation channel, subfamily M, member 1". 
  5. ^ Miller AJ, Du J, Rowan S, Hershey CL, Widlund HR, Fisher DE (2004). "Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma". Cancer Res. 64 (2): 509–16. doi:10.1158/0008-5472.CAN-03-2440. PMID 14744763. 
  6. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  7. ^ Audo, I; Kohl, S; Leroy, B. P.; Munier, F. L.; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E. F.; Lorenz, B; Preising, M; Kellner, U; Renner, A. B.; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M. E.; Poloschek, C. M.; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C. P.; Schorderet, D. F.; De Baere, E; Berger, W; Jacobson, S. G.; Zrenner, E; Sahel, J. A.; Bhattacharya, S. S.; Zeitz, C (2009). "TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness". The American Journal of Human Genetics 85 (5): 720–9. doi:10.1016/j.ajhg.2009.10.013. PMC 2775830. PMID 19896113.  edit
  8. ^ Li, Z; Sergouniotis, P. I.; Michaelides, M; MacKay, D. S.; Wright, G. A.; Devery, S; Moore, A. T.; Holder, G. E.; Robson, A. G.; Webster, A. R. (2009). "Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans". The American Journal of Human Genetics 85 (5): 711–9. doi:10.1016/j.ajhg.2009.10.003. PMC 2775833. PMID 19878917.  edit
  9. ^ Nakamura, M; Sanuki, R; Yasuma, T. R.; Onishi, A; Nishiguchi, K. M.; Koike, C; Kadowaki, M; Kondo, M; Miyake, Y; Furukawa, T (2010). "TRPM1 mutations are associated with the complete form of congenital stationary night blindness". Molecular vision 16: 425–37. PMC 2838739. PMID 20300565.  edit
  10. ^ Van Genderen, M. M.; Bijveld, M. M.; Claassen, Y. B.; Florijn, R. J.; Pearring, J. N.; Meire, F. M.; McCall, M. A.; Riemslag, F. C.; Gregg, R. G.; Bergen, A. A.; Kamermans, M (2009). "Mutations in TRPM1 are a common cause of complete congenital stationary night blindness". The American Journal of Human Genetics 85 (5): 730–6. doi:10.1016/j.ajhg.2009.10.012. PMC 2775826. PMID 19896109.  edit
  11. ^ Bellone RR, Brooks SA, Sandmeyer L, et al. (August 2008). "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. doi:10.1534/genetics.108.088807. PMC 2516064. PMID 18660533. 

External links[edit]

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