TAAR1 Gene - Trace Amine Associated Receptor 1

A key modulator of monoaminergic neurotransmission, implicated in neuropsychiatric disorders and metabolic regulation.

Gene Information Card

Symbol TAAR1
Full Name Trace Amine Associated Receptor 1
Gene Type protein coding
Chromosomal Location 6q23.2
NCBI Gene ID 134864 ncbi.nlm.nih.gov/gene/134864
Ensembl ID ENSG00000146385
UniProt ID Q96RJ0
OMIM ID 609333
HGNC ID 21012
Aliases TA1, TAR1, TRAR1

Description

TAAR1 encodes a G protein-coupled receptor (GPCR) that is activated by trace amines such as beta-phenylethylamine, tyramine, and octopamine. It modulates monoaminergic systems (dopamine, serotonin, norepinephrine) and is involved in brain signaling, immune regulation, and metabolic processes. TAAR1 is a target for drug development in psychiatric and metabolic disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Schizophrenia Modulation of dopaminergic and serotonergic signaling; TAAR1 agonists show antipsychotic-like effects Clinical trials (e.g., ulotaront) and animal models
Substance Use Disorders Regulation of dopamine reward pathways; TAAR1 activation reduces drug-seeking behavior Preclinical studies in rodents
Metabolic Syndrome Influence on insulin secretion and glucose homeostasis; TAAR1 expressed in pancreatic islets Animal knockout studies
Parkinson's Disease Potential neuroprotective role via modulation of monoamine systems Preclinical evidence

Expression Profile

Tissue Expression
Tissue nTPM level
Brain (amygdala, hippocampus, substantia nigra) Not available High
Spinal cord Not available Moderate
Pancreas Not available Moderate
Liver Not available Low
Kidney Not available Low
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) Not available Endogenous expression
HEK293 (embryonic kidney) Not available Often used for recombinant expression
MIN6 (pancreatic beta cell) Not available Endogenous expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
rs8192619 SNV (intronic) Minor allele frequency ~0.1-0.3 Potential association with psychiatric phenotypes (not fully validated)
rs7304841 SNV (intronic) Minor allele frequency ~0.2-0.4 Reported in GWAS for metabolic traits
rs2232234 SNV (missense, p.Val288Ile) Minor allele frequency ~0.01 Functional impact uncertain; may alter receptor activity
Mutation functional classification

Loss of Function (LOF)

Rare variants leading to reduced receptor signaling have been reported in functional assays, but no definitive pathogenic variants are catalogued in ClinVar.

Gain of Function (GOF)

No gain-of-function mutations have been characterized in TAAR1.

Dominant Negative (DN)

No dominant-negative effects have been described for TAAR1.

Gene Ontology (GO)

• G protein-coupled receptor activity • trace-amine receptor activity
• plasma membrane • signal transduction
• adenylate cyclase-activating G protein-coupled receptor signaling pathway • response to amphetamine

Pathways

• Trace amine signaling pathway
• GPCR downstream signaling (cAMP/PKA)
• Dopamine receptor crosstalk

Protein Summary

TAAR1 is a 378-amino acid GPCR that couples to Gs proteins, leading to cAMP production. It is activated by endogenous trace amines and synthetic ligands. TAAR1 is predominantly expressed in the brain, where it modulates monoamine release and neuronal excitability. It also plays a role in peripheral tissues, particularly in pancreatic beta cells, affecting insulin secretion. Due to its involvement in neuropsychiatric and metabolic pathways, TAAR1 is a promising therapeutic target.

Related Products

Product name Cat.No. Species Gene ID
TAAR1 Knockout HEK293 Cell Line EDJ-KQ9349 Human 134864 Details Get a Quote
TAAR1 Knockout HeLa Cell Line EDJ-KQ58346 Human 134864 Details Get a Quote
TAAR1 Knockout A-549 Cell Line EDJ-KQ66835 Human 134864 Details Get a Quote
TAAR1 Knockout HCT 116 Cell Line EDJ-KQ75238 Human 134864 Details Get a Quote
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