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 det... See more...

Aliases for MTNR1A Gene

Aliases for MTNR1A Gene

  • Melatonin Receptor 1A 2 3 5
  • Melatonin Receptor Type 1A 3 4
  • Mel1a Receptor 3 4
  • MEL-1A-R 2 3
  • Mel-1A-R 4
  • MTNR1A 5
  • MT1 3

External Ids for MTNR1A Gene

Previous GeneCards Identifiers for MTNR1A Gene

  • GC04M188488
  • GC04M188133
  • GC04M188149
  • GC04M187829
  • GC04M187691
  • GC04M187454
  • GC04M187347
  • GC04M183202

Summaries for MTNR1A Gene

Entrez Gene Summary for MTNR1A Gene

  • 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]

GeneCards Summary for MTNR1A Gene

MTNR1A (Melatonin Receptor 1A) is a Protein Coding gene. Diseases associated with MTNR1A include Delayed Sleep Phase Disorder and Periodic Limb Movement Disorder. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and melatonin receptor activity. An important paralog of this gene is MTNR1B.

UniProtKB/Swiss-Prot Summary for MTNR1A Gene

  • High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity.

Tocris Summary for MTNR1A Gene

  • Melatonin receptors are a group of high affinity Gi/G0 protein-coupled receptors, which are split into two subtypes; MT1 and MT2. They are widely distributed with high concentrations found in the brain (especially in the suprachiasmatic nucleus) and in the retina.

Gene Wiki entry for MTNR1A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTNR1A Gene

Genomics for MTNR1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTNR1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J186554 Promoter 1.2 EPDnew Ensembl 600.7 +0.2 167 1.2 CTCF PRDM10 KDM1A REST EZH2 GABPA ZNF600 ZFX ZNF561 SCRT2 ENSG00000272297 MTNR1A
GH04J186557 Enhancer 0.5 Ensembl 0.7 -2.1 -2105 1.1 PRDM10 ZNF629 TSHZ1 KLF8 KLF17 SMARCA4 INSM2 SP7 ZEB2 MTNR1A lnc-F11-8 FAT1
GH04J186570 Enhancer 0.7 FANTOM5 ENCODE CraniofacialAtlas 0.4 -14.6 -14617 0.7 PKNOX1 POLR2A lnc-F11-8 MTNR1A FAT1
GH04J186721 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.1 -170.4 -170412 9.2 RNF2 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 NFKBIZ FAT1 AB372738 lnc-F11-1 lnc-FAT1-4 ENSG00000287169 MTNR1A
GH04J186621 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.2 -68.5 -68475 5.1 TEAD4 ZNF24 CTCF RFX1 JUND CEBPB FOS TEAD1 RBM22 ZFP91 lnc-MTNR1A-66 LOC107986334 MTNR1A FAT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTNR1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTNR1A

Top Transcription factor binding sites by QIAGEN in the MTNR1A gene promoter:
  • ATF
  • C/EBPalpha
  • C/EBPbeta
  • E47
  • GATA-1
  • HTF
  • RORalpha2
  • STAT5A
  • STAT5B
  • TGIF

Genomic Locations for MTNR1A Gene

Genomic Locations for MTNR1A Gene
chr4:186,532,769-186,555,567
(GRCh38/hg38)
Size:
22,799 bases
Orientation:
Minus strand
chr4:187,454,809-187,476,721
(GRCh37/hg19)
Size:
21,913 bases
Orientation:
Minus strand

Genomic View for MTNR1A Gene

Genes around MTNR1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTNR1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTNR1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTNR1A Gene

Proteins for MTNR1A Gene

  • Protein details for MTNR1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48039-MTR1A_HUMAN
    Recommended name:
    Melatonin receptor type 1A
    Protein Accession:
    P48039
    Secondary Accessions:
    • A0AVC5
    • B0M0L2

    Protein attributes for MTNR1A Gene

    Size:
    350 amino acids
    Molecular mass:
    39375 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MTNR1A Gene

neXtProt entry for MTNR1A Gene

Post-translational modifications for MTNR1A Gene

  • Glycosylation at Asn4 and Asn10

Other Protein References for MTNR1A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MTNR1A Gene

Domains & Families for MTNR1A Gene

Gene Families for MTNR1A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

Protein Domains for MTNR1A Gene

InterPro:
Blocks:
  • Melatonin receptor signature
  • Melatonin 1A receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for MTNR1A Gene

GenScript: Design optimal peptide antigens:
  • Melatonin receptor type 1A (MTR1A_HUMAN)
  • MTNR1A protein (Q29RX9_HUMAN)
  • Melatonin receptor Mel1a (Q8WZ72_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48039

UniProtKB/Swiss-Prot:

MTR1A_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with MTNR1A: view

Function for MTNR1A Gene

Molecular function for MTNR1A Gene

UniProtKB/Swiss-Prot Function:
High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity.
GENATLAS Biochemistry:
melatonin receptor 1A,disorders with varients R54W and A157V more prominent in a Japanese population,putatively involved in subjects with Circadian rhythm sleep disorders,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for MTNR1A Gene

Gene Ontology (GO) - Molecular Function for MTNR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IBA 21873635
GO:0005515 protein binding IPI 17215244
GO:0008502 melatonin receptor activity IDA 10531408
GO:0042562 hormone binding IPI 10531408
GO:0097159 organic cyclic compound binding IPI 10531408
genes like me logo Genes that share ontologies with MTNR1A: view
genes like me logo Genes that share phenotypes with MTNR1A: view

Animal Models for MTNR1A Gene

MGI Knock Outs for MTNR1A:

Animal Model Products

  • Taconic Biosciences Mouse Models for MTNR1A

CRISPR Products

miRNA for MTNR1A Gene

miRTarBase miRNAs that target MTNR1A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTNR1A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTNR1A Gene

Localization for MTNR1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTNR1A Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTNR1A gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MTNR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 10531408
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IDA 10531408
genes like me logo Genes that share ontologies with MTNR1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTNR1A Gene

Pathways & Interactions for MTNR1A Gene

genes like me logo Genes that share pathways with MTNR1A: view

Pathways by source for MTNR1A Gene

SIGNOR curated interactions for MTNR1A Gene

Activates:

Gene Ontology (GO) - Biological Process for MTNR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 9645677
GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA 10531408
GO:0007617 mating behavior TAS 7946354
genes like me logo Genes that share ontologies with MTNR1A: view

Drugs & Compounds for MTNR1A Gene

(42) Drugs for MTNR1A Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Melatonin Approved, Vet_approved Nutra Antagonist, Agonist, Full agonist, Target, agonist, binder Melatonin receptors MT inhibitor, Endogenous hormone; agonist at MT1 and MT2 398
Ramelteon Approved, Investigational Pharma Agonist, Full agonist, Target, multitarget, agonist Agonist of melatonin receptor(M1-M2),highly selective 0
Agomelatine Approved, Investigational Pharma Antagonist, Agonist, Full agonist, Target, agonist MT1/MT2 / 5-HT2C agonist 0
Tasimelteon Approved, Investigational Pharma Target, agonist 0
Resveratrol Investigational Pharma Target Cyclooxygenase inhibitor 156

(1) Additional Compounds for MTNR1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for MTNR1A Gene

Compound Action Cas Number
2-Iodomelatonin High affinity melatonin agonist 93515-00-5
2-Phenylmelatonin Potent melatonin agonist 151889-03-1
6-Chloromelatonin Melatonin agonist 63762-74-3
8-M-PDOT Melatonin agonist 134865-70-6
Melatonin Endogenous hormone; agonist at MT1 and MT2 73-31-4

(11) ApexBio Compounds for MTNR1A Gene

Compound Action Cas Number
2-Iodomelatonin 93515-00-5
2-Phenylmelatonin 151889-03-1
4-P-PDOT 134865-74-0
6-Chloromelatonin 63762-74-3
8-M-PDOT 134865-70-6
DH 97 220339-00-4
GR 135531 190277-13-5
Luzindole 117946-91-5
Melatonin Melatonin receptors MT inhibitor 73-31-4
N-Acetyltryptamine 1016-47-3
Ramelteon Agonist of melatonin receptor(M1-M2),highly selective 196597-26-9
genes like me logo Genes that share compounds with MTNR1A: view

Drug Products

Transcripts for MTNR1A Gene

mRNA/cDNA for MTNR1A Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTNR1A

Alternative Splicing Database (ASD) splice patterns (SP) for MTNR1A Gene

No ASD Table

Relevant External Links for MTNR1A Gene

GeneLoc Exon Structure for
MTNR1A

Expression for MTNR1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTNR1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTNR1A Gene

This gene is overexpressed in Kidney - Cortex (x14.5), Brain - Cerebellar Hemisphere (x9.1), Testis (x6.0), Brain - Cerebellum (x5.7), and Colon - Transverse (x4.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTNR1A

SOURCE GeneReport for Unigene cluster for MTNR1A Gene:

Hs.243467

mRNA Expression by UniProt/SwissProt for MTNR1A Gene:

P48039-MTR1A_HUMAN
Tissue specificity: Expressed in hypophyseal pars tuberalis and hypothalamic suprachiasmatic nuclei (SCN). Hippocampus.

Evidence on tissue expression from TISSUES for MTNR1A Gene

  • Blood(4.6)
  • Nervous system(4.5)
  • Eye(2.3)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with MTNR1A: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTNR1A Gene

Orthologs for MTNR1A Gene

This gene was present in the common ancestor of animals.

Orthologs for MTNR1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTNR1A 30 31
  • 99.08 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTNR1A 30
  • 85.34 (n)
Cow
(Bos Taurus)
Mammalia MTNR1A 30 31
  • 84.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtnr1a 30
  • 82.57 (n)
Mouse
(Mus musculus)
Mammalia Mtnr1a 30 17 31
  • 81.62 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTNR1A 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 57 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves MEL1A 31
  • 77 (a)
OneToOne
MTNR1A 30
  • 74.48 (n)
Lizard
(Anolis carolinensis)
Reptilia MTNR1A 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtnr1a 30
  • 71.24 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397808 30
Zebrafish
(Danio rerio)
Actinopterygii MTNR1A (2 of 2) 31
  • 75 (a)
OneToMany
mtnr1aa 31
  • 75 (a)
OneToMany
LOC565718 30
  • 70.86 (n)
mel1ar 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11655 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG30340 31
  • 17 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea npr-35 31
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
ManyToMany
CSA.5131 31
  • 19 (a)
ManyToMany
Species where no ortholog for MTNR1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MTNR1A Gene

ENSEMBL:
Gene Tree for MTNR1A (if available)
TreeFam:
Gene Tree for MTNR1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTNR1A: view image

Paralogs for MTNR1A Gene

(3) SIMAP similar genes for MTNR1A Gene using alignment to 3 proteins:

  • MTR1A_HUMAN
  • Q29RX9_HUMAN
  • Q8WZ72_HUMAN
genes like me logo Genes that share paralogs with MTNR1A: view

Variants for MTNR1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTNR1A Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
716546 Benign: not provided 186,534,272(-) G/A MISSENSE_VARIANT
762676 Likely Benign: not provided 186,534,154(-) G/A SYNONYMOUS_VARIANT
791529 Benign: not provided 186,534,107(-) A/G MISSENSE_VARIANT
rs1800884 - p.Ala157Val
rs1800885 - p.Arg54Trp

Additional dbSNP identifiers (rs#s) for MTNR1A Gene

Structural Variations from Database of Genomic Variants (DGV) for MTNR1A Gene

Variant ID Type Subtype PubMed ID
dgv5494n100 CNV gain 25217958
dgv5495n100 CNV gain 25217958
esv1214111 CNV deletion 17803354
esv1667505 CNV insertion 17803354
esv2728948 CNV deletion 23290073
esv2728949 CNV deletion 23290073
nsv1015619 CNV gain 25217958
nsv1022361 CNV gain 25217958
nsv1025244 CNV gain 25217958
nsv1073826 CNV deletion 25765185
nsv1131853 CNV deletion 24896259
nsv1142415 CNV tandem duplication 24896259
nsv289366 CNV insertion 16902084
nsv4646 CNV insertion 18451855
nsv525719 CNV gain 19592680
nsv596417 CNV gain 21841781

Variation tolerance for MTNR1A Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.13; 51.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTNR1A Gene

Human Gene Mutation Database (HGMD)
MTNR1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTNR1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTNR1A Gene

Disorders for MTNR1A Gene

MalaCards: The human disease database

(8) MalaCards diseases for MTNR1A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
delayed sleep phase disorder
  • delayed sleep phase disorder, susceptibility to
periodic limb movement disorder
  • nocturnal myoclonus
scoliosis
sleep disorder
  • non-organic sleep disorder
nephrolithiasis
  • kidney stones
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MTNR1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MTNR1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTNR1A Gene

Publications for MTNR1A Gene

  1. Lack of association between the promoter polymorphism of the MTNR1A gene and adolescent idiopathic scoliosis. (PMID: 18794763) Qiu XS … Qiu Y (Spine 2008) 3 23 41
  2. Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis. (PMID: 12973153) Morcuende JA … Sheffield V (Spine 2003) 3 23 41
  3. Alleic variants of human melatonin 1a receptor: function and prevalence in subjects with circadian rhythm sleep disorders. (PMID: 10471411) Ebisawa T … Yamauchi T (Biochemical and biophysical research communications 1999) 3 4 23
  4. Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). (PMID: 7558006) Slaugenhaupt SA … Reppert SM (Genomics 1995) 2 3 23
  5. Structural basis of ligand recognition at the human MT1 melatonin receptor. (PMID: 31019306) Stauch B … Cherezov V (Nature 2019) 3 4

Products for MTNR1A Gene

Sources for MTNR1A Gene