InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TRPM1

Summary

InnateDB Protein

IDBP-598463.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TRPM1

Protein Name

transient receptor potential cation channel, subfamily M, member 1

Synonyms

CSNB1C; LTRPC1; MLSN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000453119

InnateDB Gene

IDBG-4950 (TRPM1)

Protein Structure

UniProt Annotation

Function

Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel. {ECO:0000250, ECO:0000269PubMed:11535825, ECO:0000269PubMed:19878917, ECO:0000269PubMed:19896109}.

Subcellular Localization

Cell membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255, ECO:0000269PubMed:11535825}.

Disease Associations

Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269PubMed:19878917, ECO:0000269PubMed:19896109, ECO:0000269PubMed:19896113}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the retina where it localizes to the outer plexiform layer. Highly expressed in benign melanocytic nevi and diffusely expressed in various in situ melanomas, but not detected in melanoma metastases. Also expressed in melanocytes and pigmented metastatic melanoma cell lines. In melanocytes expression appears to be regulated at the level of transcription and mRNA processing. {ECO:0000269PubMed:11112417, ECO:0000269PubMed:19896109, ECO:0000269PubMed:9537257}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005262	calcium channel activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0007216	G-protein coupled glutamate receptor signaling pathway
GO:0007601	visual perception
GO:0034220	ion transmembrane transport
GO:0055085	transmembrane transport
GO:0060402	calcium ion transport into cytosol
GO:0070588	calcium ion transmembrane transport
GO:0071482	cellular response to light stimulus