TRPM1
TRPM1 | |||
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Identifiers | |||
Gene ontology | |||
Molecular function | |||
Cellular component | |||
Biological process |
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Sources:Amigo / QuickGO |
Ensembl | |||||||||
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UniProt | |||||||||
RefSeq (mRNA) | |||||||||
RefSeq (protein) | |||||||||
Location (UCSC) | Chr 15: 31 – 31.16 Mb | Chr 7: 63.8 – 63.92 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
Transient receptor potential cation channel subfamily M member 1 is a protein that in humans is encoded by the TRPM1 gene.[5][6][7]
Function
The protein encoded by this gene is a member of the
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
- ^ a b c ENSG00000134160 GRCh38: Ensembl release 89: ENSG00000274965, ENSG00000134160 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030523 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 9806836.
- PMID 9537257.
- S2CID 17936350.
- PMID 19861548.
- PMID 19966281.
- PMID 28715957.
- PMID 26111660.
- ^ "Entrez Gene: TRPM1 transient receptor potential cation channel, subfamily M, member 1".
- ^ PMID 21109473.
- PMID 22897572.
- PMID 14744763.
- PMID 19067971.
- PMID 21072171.
- PMID 19896113.
- PMID 19878917.
- PMID 20300565.
- PMID 19896109.
- PMID 18660533.
External links
- TRPM1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.