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MTNR1A melatonin receptor 1A [ Homo sapiens (human) ]

Gene ID: 4543, updated on 2-Nov-2024

Summary

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Official Symbol
MTNR1Aprovided by HGNC
Official Full Name
melatonin receptor 1Aprovided by HGNC
Primary source
HGNC:HGNC:7463
See related
Ensembl:ENSG00000168412 MIM:600665; AllianceGenome:HGNC:7463
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MT1; MEL-1A-R
Summary
This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 1.1), testis (RPKM 0.6) and 8 other tissues See more
Orthologs
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Genomic context

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See MTNR1A in Genome Data Viewer
Location:
4q35.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (186533655..186555567, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (189880029..189902297, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187454809..187476721, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene F11 antisense RNA 1 Neighboring gene uncharacterized LOC124900874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187327311-187327811 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:187348988-187349527 Neighboring gene Sharpr-MPRA regulatory region 13116 Neighboring gene RNA, U6 small nuclear 1055, pseudogene Neighboring gene uncharacterized LOC105377596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187459115-187459616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187459617-187460116 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76785 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:187509297-187510496 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:187524269-187525468 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:187538202-187539401 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76848 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76856 Neighboring gene uncharacterized LOC107986334 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76895 Neighboring gene FAT atypical cadherin 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:187608985-187609605 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187610837-187611336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187644451-187644952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187645453-187646452 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187647635-187648136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187670509-187671010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187671011-187671510 Neighboring gene uncharacterized LOC124900875

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Lack of association between the promoter polymorphism of the MTNR1A gene and adolescent idiopathic scoliosis. Qiu XS, et al. Spine (Phila Pa 1976), 2008 Sep 15. PMID 18794763
  2. Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-D) scale: a meta-analysis of genome-wide association studies. Demirkan A, et al. Psychol Med, 2016 Jun. PMID 26997408, Free PMC Article
  3. Interactions between environmental factors and melatonin receptor type 1A polymorphism in relation to oral cancer susceptibility and clinicopathologic development. Lin FY, et al. PLoS One, 2015. PMID 25806809, Free PMC Article
  4. Expression of the MT1 melatonin receptor in ovarian cancer cells. Jablonska K, et al. Int J Mol Sci, 2014 Dec 12. PMID 25514412, Free PMC Article
  5. Melatonin receptor type 1 signals to extracellular signal-regulated kinase 1 and 2 via Gi and Gs dually coupled pathways in HEK-293 cells. Chen L, et al. Biochemistry, 2014 May 6. PMID 24724723

See all (114) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
    Title: Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
  2. Rs4862705 in the melatonin receptor 1A gene is associated with renal function decline in type 1 diabetes individuals.
    Title: Rs4862705 in the melatonin receptor 1A gene is associated with renal function decline in type 1 diabetes individuals.
  3. Melatonin receptor 1A (MTNR1A) gene linkage and association to type 2 diabetes in Italian families.
    Title: Melatonin receptor 1A (MTNR1A) gene linkage and association to type 2 diabetes in Italian families.
  4. Association of rotating night shift work, CLOCK, MTNR1A, MTNR1B genes polymorphisms and their interactions with type 2 diabetes among steelworkers: a case-control study.
    Title: Association of rotating night shift work, CLOCK, MTNR1A, MTNR1B genes polymorphisms and their interactions with type 2 diabetes among steelworkers: a case-control study.
  5. MTNR1A and MTNR1B Gene Variants of the Melatonin Receptor and Arterial Stiffness in Persons without Arterial Hypertension.
    Title: MTNR1A and MTNR1B Gene Variants of the Melatonin Receptor and Arterial Stiffness in Persons without Arterial Hypertension.
  6. Association between genetic polymorphisms in the melatonin receptor type 1 A gene and sleep bruxism.
    Title: Association between genetic polymorphisms in the melatonin receptor type 1 A gene and sleep bruxism.
  7. Melatonin Reverses the Warburg-Type Metabolism and Reduces Mitochondrial Membrane Potential of Ovarian Cancer Cells Independent of MT1 Receptor Activation.
    Title: Melatonin Reverses the Warburg-Type Metabolism and Reduces Mitochondrial Membrane Potential of Ovarian Cancer Cells Independent of MT1 Receptor Activation.
  8. Structural basis of the ligand binding and signaling mechanism of melatonin receptors.
    Title: Structural basis of the ligand binding and signaling mechanism of melatonin receptors.
  9. MT1 and MT2 melatonin receptors play opposite roles in brain cancer progression.
    Title: MT1 and MT2 melatonin receptors play opposite roles in brain cancer progression.
  10. Melatonin 1A and 1B Receptors' Expression Decreases in the Placenta of Women with Fetal Growth Restriction.
    Title: Melatonin 1A and 1B Receptors' Expression Decreases in the Placenta of Women with Fetal Growth Restriction.
Submit: New GeneRIF Correction See all GeneRIFs (77)

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
A genome-wide association study on obesity and obesity-related traits.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hormone binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables melatonin receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables organic cyclic compound binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS
Traceable Author Statement
more info
 PubMed 
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in circadian rhythm TAS
Traceable Author Statement
more info
 PubMed 
involved_in mating behavior TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
melatonin receptor type 1A
Names
mel1a receptor

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)

  1. NM_005958.4 → NP_005949.1  melatonin receptor type 1A

    See identical proteins and their annotated locations for NP_005949.1

    Status: REVIEWED

    Source sequence(s)
    BC074946, BC126297
    Consensus CDS
    CCDS3848.1
    UniProtKB/Swiss-Prot
    A0AVC5, B0M0L2, P48039
    Related
    ENSP00000302811.5, ENST00000307161.5
    Conserved Domains (2) summary
    cd14964
    Location:30 → 54
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:28 → 306
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    186533655..186555567 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532002.4 → XP_011530304.1  melatonin receptor type 1A isoform X1

    UniProtKB/TrEMBL
    Q29RX9
    Conserved Domains (2) summary
    pfam00001
    Location:2 → 210
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:17 → 121
    7tm_4; Olfactory receptor

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    189880029..189902297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350094.1 → XP_054206069.1  melatonin receptor type 1A isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48039.1 GenPept UniProtKB/Swiss-Prot:P48039

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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