MTNR1A
Melatonin Receptor 1A
Gene Information Card
| Symbol | MTNR1A |
|---|---|
| Full Name | Melatonin Receptor 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 4q35.2 |
| NCBI Gene ID | 4543 ncbi.nlm.nih.gov/gene/4543 |
| Ensembl ID | ENSG00000168412 |
| UniProt ID | P48039 |
| OMIM ID | 600665 |
| HGNC ID | 7464 |
| Aliases | MT1, MEL-1A-R, MTR-1A |
Description
The MTNR1A gene encodes the melatonin receptor 1A (MT1), a G protein-coupled receptor (GPCR) that mediates the effects of melatonin, a hormone primarily involved in regulating circadian rhythms and sleep-wake cycles. MT1 is expressed in various tissues including brain, retina, and peripheral organs, and plays roles in seasonal reproduction, blood pressure regulation, and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Major Depressive Disorder | Altered MT1 signaling may disrupt circadian entrainment and mood regulation | PMID: 25651499 |
| Type 2 Diabetes | MT1 variants associated with impaired insulin secretion and glucose homeostasis | PMID: 19651818 |
| Delayed Sleep Phase Disorder (DSPD) | Polymorphisms in MTNR1A linked to phase delay in circadian rhythm | PMID: 15689435 |
| Breast Cancer | Reduced MT1 expression may promote tumor growth via disrupted melatonin signaling | PMID: 16204469 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 5.2 | Low |
| Retina | 12.8 | Medium |
| Pituitary gland | 8.1 | Low |
| Heart | 3.4 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 6.5 | Endogenous expression |
| HEK293 (embryonic kidney) | 0.8 | Low; often used for recombinant expression |
| MCF-7 (breast cancer) | 4.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2119882 (c.243C>T) | SNP | 0.15 (global) | Alters receptor activity; associated with sleep disorders |
| rs13140012 (c.738G>A) | SNP | 0.08 (European) | May affect receptor trafficking |
| c.200G>A (p.Arg67His) | Missense | Rare | Reduced melatonin binding affinity |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg67His) reduce ligand binding and downstream signaling, impairing circadian regulation.
Gain of Function (GOF)
Not well documented; no common gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative mutations currently described in literature.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • melatonin receptor activity |
| • circadian rhythm | • response to light stimulus |
| • adenylate cyclase inhibition |
Pathways
• Melatonin signaling pathway
• Circadian entrainment
• GPCR downstream signaling (cAMP inhibition)
Protein Summary
The MT1 receptor is a 350-amino acid protein with seven transmembrane domains typical of GPCRs. It binds melatonin with high affinity and couples primarily to Gi proteins, inhibiting adenylyl cyclase and reducing cAMP levels. Post-translational modifications include glycosylation and palmitoylation, which modulate receptor trafficking and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTNR1A Knockout HEK293 Cell Line | EDC07578 | Human | 4543 | Details Get a Quote |
| MTNR1A Knockout HeLa Cell Line | EDJ-KQ53919 | Human | 4543 | Details Get a Quote |
| MTNR1A Knockout A-549 Cell Line | EDJ-KQ62412 | Human | 4543 | Details Get a Quote |
| MTNR1A Knockout HCT 116 Cell Line | EDJ-KQ70879 | Human | 4543 | Details Get a Quote |
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