TRPM5 transient receptor potential cation channel subfamily M member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRPM5provided by HGNC
Official Full Name: transient receptor potential cation channel subfamily M member 5provided by HGNC
Primary source: HGNC:HGNC:14323
See related: Ensembl:ENSG00000070985 MIM:604600; AllianceGenome:HGNC:14323
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTR1; LTRPC5
Summary: This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]
Expression: Biased expression in duodenum (RPKM 1.1), testis (RPKM 1.1) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (2403991..2444514, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (2493342..2533837, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (2425745..2465744, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel association between a transient receptor potential cation channel subfamily M member 5 expression quantitative trait locus rs35197079 and decreased susceptibility of gestational diabetes mellitus in a Chinese population.
Title: Novel association between a transient receptor potential cation channel subfamily M member 5 expression quantitative trait locus rs35197079 and decreased susceptibility of gestational diabetes mellitus in a Chinese population.
Association of TRPM5 Asn235Ser Polymorphism and Trace Elements/Minerals in Chronic Gastritis Patients: a Case-Control Study.
Title: Association of TRPM5 Asn235Ser Polymorphism and Trace Elements/Minerals in Chronic Gastritis Patients: a Case-Control Study.
Hair Follicle Chemosensation: TRPM5 Signaling Is Required for Anagen Maintenance.
Title: Hair Follicle Chemosensation: TRPM5 Signaling Is Required for Anagen Maintenance.
TRPM5 Negatively Regulates Calcium-Dependent Responses in Lipopolysaccharide-Stimulated B Lymphocytes.
Title: TRPM5 Negatively Regulates Calcium-Dependent Responses in Lipopolysaccharide-Stimulated B Lymphocytes.
genetic association studies in populations in Northern Europe, Maghreb, and Sri Lanka: Data suggest that SNPs in TAS2R50 (rs1376251), TRPM5 (rs800345), and TAS2R16 (rs860170) are associated with cultural food preferences; TAS2R16 (rs860170) strongly differentiates populations and is associated to salicin bitterness perception. (TAS2R = taste receptor type 2)
Title: A bio-cultural approach to the study of food choice: The contribution of taste genetics, population and culture.
Our results suggest roles of TRPM3 and TRPM5 gene variants in the susceptibility to or clinical expression of Systemic sclerosis
Title: Association of TRPM Channel Gene Polymorphisms with Systemic Sclerosis.
The PKC-dependent effect of GLP-1 on membrane potential and electrical activity was mediated by activation of Na(+)-permeable TRPM4 and TRPM5 channels by mobilization of intracellular Ca(2+) from thapsigargin-sensitive Ca(2+) stores
Title: GLP-1 stimulates insulin secretion by PKC-dependent TRPM4 and TRPM5 activation.
In a Turkish population, genetic polymorphism in TRPM5 genes modify individual susceptibility to metabolic syndrome.
Title: Role of the transient receptor potential (TRP) channel gene expressions and TRP melastatin (TRPM) channel gene polymorphisms in obesity-related metabolic syndrome.
TRPM5-mediated Na(+) entry to promote Ca(2+) uptake via an NCX to trigger MUC5AC secretion
Title: TRPM5-mediated calcium uptake regulates mucin secretion from human colon goblet cells.
TrpM5 expression was similar throughout the olfactory glomeruli.
Title: Differential localization of NT-3 and TrpM5 in glomeruli of the olfactory bulb of mice.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-activated cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ligand-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoatomic ion channel activity	TAS Traceable Author Statement more info	PubMed
enables potassium channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: transient receptor potential cation channel subfamily M member 5

Names: MLSN1 and TRP-related; MLSN1- and TRP-related gene 1 protein; long transient receptor potential channel 5

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_014555.4 → NP_055370.1 transient receptor potential cation channel subfamily M member 5

See identical proteins and their annotated locations for NP_055370.1

Status: VALIDATED

Source sequence(s)

AC124057

Consensus CDS

CCDS31340.1

UniProtKB/Swiss-Prot

A6NHS0, Q52LU2, Q9NY34, Q9NZQ8

UniProtKB/TrEMBL

E9PQF7

Related

ENSP00000512529.1, ENST00000696290.1

Conserved Domains (1) summary

COG0515
Location:253 → 342

SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

2403991..2444514 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426858.1 → XP_047282814.1 transient receptor potential cation channel subfamily M member 5 isoform X3

UniProtKB/TrEMBL

E9PQF7

Related

ENSP00000436809.1, ENST00000528453.1
XM_017017628.2 → XP_016873117.1 transient receptor potential cation channel subfamily M member 5 isoform X1

UniProtKB/TrEMBL

E9PRW0
XM_047426859.1 → XP_047282815.1 transient receptor potential cation channel subfamily M member 5 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

2493342..2533837 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368597.1 → XP_054224572.1 transient receptor potential cation channel subfamily M member 5 isoform X1

UniProtKB/TrEMBL

E9PRW0
XM_054368598.1 → XP_054224573.1 transient receptor potential cation channel subfamily M member 5 isoform X2