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TRPM1 - transient receptor potential cation channel subfamily M member 1 (human)

Gene
Symbol
Dates
  • Create:
    2016-09-14
  • Modify:
    2025-01-29
Description
This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
Enables calcium channel activity. Involved in several processes, including G protein-coupled glutamate receptor signaling pathway; calcium ion import across plasma membrane; and visual perception. Located in endoplasmic reticulum. Implicated in congenital stationary night blindness and congenital stationary night blindness 1C.

The TRPM1 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 1 (TRPM1). This protein acts as a channel, transporting positively charged atoms (cations) into cells. The TRPM1 channel is found on the surface of two types of cells: pigment-producing cells called melanocytes and specialized bipolar cells in the light-sensitive tissue at the back of the eye (the retina).

In melanocytes, the TRPM1 channel is thought to play a role in the production of a pigment called melanin, which is the substance that gives skin, hair, and eyes their color (pigmentation). It is unclear what role the channel plays, but increased channel activity is associated with greater melanin production and darker pigmentation.

In bipolar cells, TRPM1 channels are involved in the pathway that receives visual signals from cells called rods, which are used to see in low light. This signaling is an essential step in the transmission of visual information from the eyes to the brain. In low-light conditions, visual signals from rod cells trigger the TRPM1 channels to close, which causes visual signals to be transmitted. In bright-light conditions, the TRPM1 channel is open, allowing cations to flow in and out of bipolar cells and preventing visual signals from being sent.

1 Names and Identifiers

1.1 Synonyms

  • CSNB1C
  • LTRPC1
  • MLSN1
  • TRPM1-203 APA Isoform, Intron 10
  • TRPM1-203 APA Isoform, Intron 3
  • long transient receptor potential channel 1
  • melastatin-1
  • transient receptor potential melastatin family

1.2 Other Identifiers

1.2.1 HGNC ID

1.2.2 Ensembl ID

1.2.3 Alliance Gene ID

1.2.4 Bgee Gene ID

1.2.5 GenCC ID

1.2.6 KEGG Gene

1.2.7 MIM Number

1.2.8 Open Targets ID

1.2.9 PharmGKB ID

1.2.10 Pharos Target

1.2.11 VEuPathDB ID

1.2.12 Wikidata

3 Proteins

3.1 Protein Function

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 (PMID: 11535825, PMID: 19436059, PMID: 21278253). Impermeable to zinc ions (PMID: 21278253). In addition, forms heteromultimeric ion channels with TRPM3 which are permeable for calcium and zinc ions (PMID: 21278253). Plays an essential role for the depolarizing photoresponse of retinal ON bipolar cells (PMID: 19878917, PMID: 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 (PMID: 9537257).

3.2 Protein Isoforms

Isoform
Isoform 1
UniProt ID
RefSeq Accession
Isoform
Isoform 2
UniProt ID
RefSeq Accession
Isoform
Isoform 3
UniProt ID
RefSeq Accession
Isoform
Isoform 4
UniProt ID
RefSeq Accession
Isoform
Isoform 5
UniProt ID
RefSeq Accession
Isoform
Isoform 6
UniProt ID
RefSeq Accession
Isoform
Isoform 7
UniProt ID
RefSeq Accession

3.3 Protein 3D Structures

3.3.1 AlphaFold Structures

Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605

3.4 Protein Targets

4 Chemicals and Bioactivities

4.1 Tested Compounds

5 BioAssays

5.1 Small-Molecule BioAssays

5.2 RNAi BioAssays

6 Diseases and Phenotypes

6.1 GHR Health Conditions

6.2 KEGG Diseases

6.3 OMIM Phenotypes

6.4 MedGen Diseases

6.5 Gene-Disease Associations

7 Interactions and Pathways

7.1 Chemical-Gene Interactions

7.2 Interactions

7.3 Pathways

8 Biochemical Reactions

9 Cell Lines

10 Expression

11 Target Development Level

12 Literature

12.1 Consolidated References

12.2 Gene-Chemical Co-Occurrences in Literature

12.3 Gene-Gene Co-Occurrences in Literature

12.4 Gene-Disease Co-Occurrences in Literature

13 Patents

13.1 Gene-Chemical Co-Occurrences in Patents

13.2 Gene-Gene Co-Occurrences in Patents

13.3 Gene-Disease Co-Occurrences in Patents

14 Classification

14.1 Gene Family

14.2 Gene Ontology: Biological Process

14.3 Gene Ontology: Cellular Component

14.4 Gene Ontology: Molecular Function

14.5 IUPHAR / BPS Guide to PHARMACOLOGY Target Classification

15 Information Sources

  1. NCBI Gene
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    https://www.ncbi.nlm.nih.gov/home/about/policies/
  2. PubChem
  3. Alliance of Genome Resources
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    All annotations and data produced by Alliance members that are accessible from alliancegenome.org are distributed under a CC BY 4.0 license (https://creativecommons.org/licenses/by/4.0/).
    https://www.alliancegenome.org/privacy-warranty-licensing
  4. MedlinePlus Genetics
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    https://medlineplus.gov/about/using/usingcontent/
  5. BioGRID
    LICENSE
    The MIT License (MIT); Copyright Mike Tyers Lab
    https://wiki.thebiogrid.org/doku.php/terms_and_conditions
  6. STRING: functional protein association networks
  7. Comparative Toxicogenomics Database (CTD)
    LICENSE
    It is to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of NC State University.
    http://ctdbase.org/about/legal.jsp
  8. IUPHAR/BPS Guide to PHARMACOLOGY
    LICENSE
    The Guide to PHARMACOLOGY database is licensed under the Open Data Commons Open Database License (ODbL) https://opendatacommons.org/licenses/odbl/. Its contents are licensed under a Creative Commons Attribution-ShareAlike 4.0 International License (http://creativecommons.org/licenses/by-sa/4.0/)
    https://www.guidetopharmacology.org/about.jsp#license
    Guide to Pharmacology Target Classification
    https://www.guidetopharmacology.org/targets.jsp
  9. Open Targets
    LICENSE
    Datasets generated by the Open Targets Platform are freely available for download.
    https://platform-docs.opentargets.org/licence
  10. Dependency Map (DepMap)
  11. Gene Curation Coalition (GenCC)
    LICENSE
    The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication.
    https://thegencc.org/terms.html
    TRPM1
  12. HUGO Gene Nomenclature Committee (HGNC)
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    No restrictions are imposed on access to, or use of, the data provided by the HGNC, which are provided to enhance knowledge and encourage progress in the scientific community.
    https://www.genenames.org/about/
  13. KEGG
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    https://www.kegg.jp/kegg/legal.html
  14. NCBI Gene Expression Omnibus (GEO)
  15. NCBI MedGen
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    NCBI Website and Data Usage Policies and Disclaimers
    https://www.ncbi.nlm.nih.gov/home/about/policies/
  16. Online Mendelian Inheritance in Man (OMIM)
    LICENSE
    The OMIM database is made available to the general public subject to certain restrictions.
    https://omim.org/help/copyright
  17. PharmGKB
    LICENSE
    PharmGKB data are subject to the Creative Commons Attribution-ShareALike 4.0 license (https://creativecommons.org/licenses/by-sa/4.0/).
    https://www.pharmgkb.org/page/policies
  18. Pharos
    LICENSE
    Data accessed from Pharos and TCRD is publicly available from the primary sources listed above. Please respect their individual licenses regarding proper use and redistribution.
    https://pharos.nih.gov/about
  19. Swiss Institute of Bioinformatics Bgee
    LICENSE
    Creative Commons Zero license (CC0)
    https://www.bgee.org/about/
  20. UniProt
    LICENSE
    We have chosen to apply the Creative Commons Attribution (CC BY 4.0, http://creativecommons.org/licenses/by/4.0/) License to all copyrightable parts of our databases.
    https://www.uniprot.org/help/license
  21. VEuPathDB: The Eukaryotic Pathogen, Vector and Host Informatics Resource
    LICENSE
    All data on VEuPathDB websites are provided freely for public use.
    https://veupathdb.org/veupathdb/app/static-content/about.html
  22. Wikidata
  23. Gene Ontology (GO)
    LICENSE
    Gene Ontology Consortium data and data products are licensed under the Creative Commons Attribution 4.0 Unported License (https://creativecommons.org/licenses/by/4.0/legalcode)
    http://geneontology.org/docs/go-citation-policy/
  24. AlphaFold DB
    LICENSE
    All of the data provided is freely available for both academic and commercial use under Creative Commons Attribution 4.0 (CC-BY 4.0) licence terms.
    https://alphafold.ebi.ac.uk/faq
  25. Rhea - annotated reactions database
    LICENSE
    Rhea has chosen to apply the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/). This means that you are free to copy, distribute, display and make commercial use of the database in all legislations, provided you credit (cite) Rhea.
    https://www.rhea-db.org/help/license-disclaimer
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