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

    Gene ID: 4543, updated on 10-Dec-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
    mouse all
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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
    • 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)

    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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    NEW Try the new Transcript table

    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

      UniProtKB/TrEMBL
      Q29RX9
    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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