Otop1 otopetrin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Otop1provided by MGI
Official Full Name: otopetrin 1provided by MGI
Primary source: MGI:MGI:2388363
See related: Ensembl:ENSMUSG00000051596 AllianceGenome:MGI:2388363
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: tlt; Otp1; A530025J20Rik
Summary: Enables proton channel activity. Involved in cellular response to insulin stimulus; negative regulation of interferon-gamma-mediated signaling pathway; and proton transmembrane transport. Acts upstream of or within detection of gravity and inner ear morphogenesis. Located in membrane. Is integral component of plasma membrane. Is expressed in several structures, including adrenal gland; inner ear; integumental system; stomach; and thymus. Orthologous to human OTOP1 (otopetrin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in adrenal adult (RPKM 7.8), mammary gland adult (RPKM 6.4) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 20.35 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (38434748..38461560)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (38277404..38304217)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Loss of Otopetrin 1 affects thermoregulation during fasting in mice.
Title: Loss of Otopetrin 1 affects thermoregulation during fasting in mice.
The proton channel OTOP1 is a sensor for the taste of ammonium chloride.
Title: The proton channel OTOP1 is a sensor for the taste of ammonium chloride.
Cellular and Neural Responses to Sour Stimuli Require the Proton Channel Otop1.
Title: Cellular and Neural Responses to Sour Stimuli Require the Proton Channel Otop1.
The proton channel OTOP1 forms a sour receptor in mice
Title: Cellular and Neural Responses to Sour Stimuli Require the Proton Channel Otop1.
Otop1 and other members of the Otopetrin gene family encode proton-selective ion channels. Otop1 is expressed in taste bud cells that detect sour taste and is required for the proton current in these cells.
Title: An evolutionarily conserved gene family encodes proton-selective ion channels.
Expression of OTOP1 in sweet taste cells allows them to respond to sour stimuli.
Title: Sour Sensing from the Tongue to the Brain.
the mlh mutant mice, the otoconia deficiency reduced the motor, sensory, and spatial learning, as well as impaired the swimming behavior likely through balance disturbance.
Title: Behavioral and neurochemical characterization of the mlh mutant mice lacking otoconia.
Otop1 defines a unique target of cytokine signaling that attenuates obesity-induced adipose tissue inflammation and plays an adaptive role in maintaining metabolic homeostasis in obesity.
Title: Otopetrin 1 protects mice from obesity-associated metabolic dysfunction through attenuating adipose tissue inflammation.
Data show that tlt and mlh mutations uncouple Otopetrin 1 from inhibition of P2Y receptor function.
Title: Missense mutations in Otopetrin 1 affect subcellular localization and inhibition of purinergic signaling in vestibular supporting cells.
OTOP1 is expressed at the apex of supporting cells. It increases cytosolic Ca in response to purinergic agonists by blocking mobilization of Ca from intracellular stores in an extracellular Ca-dependent manner & by mediating extracellular Ca influx.
Title: Regulation of cellular calcium in vestibular supporting cells by otopetrin 1.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Spontaneous (1)
Targeted (1) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (8) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables proton channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables proton channel activity	IDA Inferred from Direct Assay more info	PubMed
enables proton channel activity	ISO Inferred from Sequence Orthology more info
enables proton channel activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within detection of gravity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of type II interferon-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: proton channel OTOP1

Names: tilted

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_172709.3 → NP_766297.2 proton channel OTOP1

See identical proteins and their annotated locations for NP_766297.2

Status: VALIDATED

Source sequence(s)

AF548337, AK040792, EH101457

UniProtKB/Swiss-Prot

A0A0R4J1J4, E9QMU2, Q7M735, Q80VM9, Q8BRZ4, Q8BS22

UniProtKB/TrEMBL

A0A5H1ZRK5

Related

ENSMUSP00000109734.6, ENSMUST00000114099.6

Conserved Domains (1) summary

pfam03189
Location:131 → 586

Otopetrin; Otopetrin

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_000071.7 Reference GRCm39 C57BL/6J

Range

38434748..38461560

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_178139.1: Suppressed sequence

Description

NM_178139.1: This RefSeq was temporarily suppressed because currently sufficient experimental data to support this transcript do not exist.