Trpm1 transient receptor potential cation channel, subfamily M, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Trpm1provided by MGI
Official Full Name: transient receptor potential cation channel, subfamily M, member 1provided by MGI
Primary source: MGI:MGI:1330305
See related: Ensembl:ENSMUSG00000030523 AllianceGenome:MGI:1330305
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: rd15; Mlsn1; Ltrpc1; 4732499L03Rik
Summary: Enables monoatomic cation channel activity. Involved in cellular response to light stimulus. Acts upstream of or within protein localization; retinal rod cell development; and signal transduction. Located in new growing cell tip. Is active in cell tip and dendrite. Is expressed in foregut; reproductive system; and sensory organ. Used to study congenital stationary night blindness 1C. Human ortholog(s) of this gene implicated in congenital stationary night blindness and congenital stationary night blindness 1C. Orthologous to human TRPM1 (transient receptor potential cation channel subfamily M member 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 7 C; 7

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (63803583..63923630)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (64153835..64269772)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mice with mutations in Trpm1, a gene in the locus of 15q13.3 microdeletion syndrome, display pronounced hyperactivity and decreased anxiety-like behavior.
Title: Mice with mutations in Trpm1, a gene in the locus of 15q13.3 microdeletion syndrome, display pronounced hyperactivity and decreased anxiety-like behavior.
Synaptotagmin-4 promotes dendrite extension and melanogenesis in alpaca melanocytes by regulating Ca(2+) influx via TRPM1 channels.
Title: Synaptotagmin-4 promotes dendrite extension and melanogenesis in alpaca melanocytes by regulating Ca(2+) influx via TRPM1 channels.
TRPM1 and mGluR6 are both essential components in the signaling pathway.
Title: Different Activity Patterns in Retinal Ganglion Cells of TRPM1 and mGluR6 Knockout Mice.
results suggest that TRPM1 channel opening is essential for rod bipolar pathway establishment in development
Title: The TRPM1 Channel Is Required for Development of the Rod ON Bipolar Cell-AII Amacrine Cell Pathway in the Retinal Circuit.
This study confirmed the localization of LRIT3 at the dendritic tips of depolarizing bipolar cells in mouse retina and demonstrated the dependence of TRPM1 localization on the presence of LRIT3.
Title: LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.
results indicate that the serum of a patient with PR contained an antibody against TRPM1 caused an acute death of retinal ON bipolar cells of mice
Title: Degeneration of retinal on bipolar cells induced by serum including autoantibody against TRPM1 in mouse model of paraneoplastic retinopathy.
TRPM1 is not essential for the development of hearing or balance in the mouse model and it is unlikely that TRPM1 is the hair cell mechanotransduction channel.
Title: Transient receptor potential melastatin 1: a hair cell transduction channel candidate.
The data indicates that the A1068T mutant TRPM1 acts as a dominant negative with respect to TRPM1 channel function.
Title: Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation.
Results suggest a model in which the Gbetagamma dimer that is released as a result of the dissociation from Galpha(o) upon activation of mGluR6 closes the TRPM1 channel, perhaps via a direct interaction.
Title: G-protein-mediated inhibition of the Trp channel TRPM1 requires the Gβγ dimer.
The results suggested that the TRPM1 channel in metabotropic glutamate receptor 6-null rod bipolar cells is inactive. Rod bipolar cells in metabotropic glutamate receptor 6-null mice were hyperpolarized.
Title: mGluR6 deletion renders the TRPM1 channel in retina inactive.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
Spontaneous (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Mlsn1 (e-PCR), detects polymorphism
- UniSTS:143876

Trpm1 (e-PCR), detects polymorphism
- UniSTS:531245

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AI606771 (e-PCR)
- UniSTS:179582

AF047714 (e-PCR)
- UniSTS:179586

RH124593 (e-PCR)
- UniSTS:161415

RH136071 (e-PCR)
- UniSTS:210066

Trpm1 (e-PCR), detects polymorphism
- UniSTS:530849

Trpm1 (e-PCR), detects polymorphism
- UniSTS:466086

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium channel activity	ISO Inferred from Sequence Orthology more info
enables calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled glutamate receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in G protein-coupled glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in calcium ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cellular response to light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to light stimulus	ISO Inferred from Sequence Orthology more info
involved_in metal ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein tetramerization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retinal rod cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info
involved_in visual perception	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cell tip	IDA Inferred from Direct Assay more info	PubMed
is_active_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in new growing cell tip	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transient receptor potential cation channel subfamily M member 1

Names: long transient receptor potential channel 1; melastatin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001039104.2 → NP_001034193.2 transient receptor potential cation channel subfamily M member 1 isoform 2

See identical proteins and their annotated locations for NP_001034193.2

Status: VALIDATED

Description

Transcript Variant: This variant (TRPM1-L, PMID: 19966281, also known as Trpm1delta189-1078) differs in the 5' UTR and 5' coding region, and includes several additional exons at the 3' end, compared to variant 1. The resulting isoform (2) has distinct N- and C-termini, and is longer than isoform 1.

Source sequence(s)

AY180104

Consensus CDS

CCDS21332.2

UniProtKB/Swiss-Prot

O70334, Q2TV84, Q2WEA6, Q3TPG5, Q3UEW7, Q3UFV6, Q3UFW1, Q3UG69, Q5U4B3, Q640P5

UniProtKB/TrEMBL

A0A0U1RQ32

Related

ENSMUSP00000082318.6, ENSMUST00000085222.12

Conserved Domains (3) summary

pfam00520
Location:899 → 1129

Ion_trans; Ion transport protein

pfam16519
Location:1228 → 1279

TRPM_tetra; Tetramerization domain of TRPM

cl19167
Location:273 → 342

Bac_export_2; FlhB HrpN YscU SpaS Family
NM_018752.3 → NP_061222.3 transient receptor potential cation channel subfamily M member 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (TRPM1-S, PMID: 19966281) encodes the shorter isoform (1).

Source sequence(s)

AF047714, AK148275, AK164395, AK190606, BB763853, BY100491

Consensus CDS

CCDS39975.2

UniProtKB/Swiss-Prot

Q2TV84

Related

ENSMUSP00000134947.3, ENSMUST00000177102.8

Conserved Domains (1) summary

pfam18139
Location:1 → 265

LSDAT_euk; SLOG in TRPM

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

63803583..63923630

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017322013.2 → XP_017177502.1 transient receptor potential cation channel subfamily M member 1 isoform X2

UniProtKB/Swiss-Prot

Q2TV84

Conserved Domains (1) summary

pfam18139
Location:1 → 265

LSDAT_euk; SLOG in TRPM
XM_017322012.3 → XP_017177501.1 transient receptor potential cation channel subfamily M member 1 isoform X1

Conserved Domains (2) summary

TIGR00870
Location:97 → 451

trp; transient-receptor-potential calcium channel protein

pfam16519
Location:520 → 575

TRPM_tetra; Tetramerisation domain of TRPM