MTNR1A

Gene Information
 
Gene Symbol
MTNR1A
 
Aliases
MEL-1A-R, MT1
 
Entrez Gene ID
 
Gene Name
Melatonin receptor 1A
 
Chromosomal Location
4q35
 
HGNC ID
 
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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0007187 Biological process G-protein signaling, coupled to cyclic nucleotide second messenger TAS 9645677
GO:0007617 Biological process Mating behavior TAS 7946354
GO:0007623 Biological process Circadian rhythm TAS 9645677
GO:0005887 Cellular component Integral to plasma membrane TAS 8700109
Protein Information
 
Protein Name
Mel1a receptor , OTTHUMP00000218000 , melatonin receptor 1A , MT1 , Mel1a receptor , MEL-1A-R , Mel-1A-R , melatonin receptor type 1A
 
Function
High affinity receptor for melatonin. Likely to mediates 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
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00001 7tm_1 7 transmembrane receptor (rhodopsin family)
 
KEGG
 
OMIM
 
Interactions
STRING MINT I2D
ENSP00000302811 P48039

Associated Diseases

Diseases References
Alzheimers disease 11841602, 17316165
Insulin resistance 21474908
Polycystic ovary syndrome (PCOS) 21474908
   
References
 
Primary:

Melatonin receptor 1A gene polymorphism associated with polycystic ovary syndrome.

Li Chao, Shi Yuhua, You Li, Wang Laicheng, Chen Zi-Jiang
Department of Obstetrics and Gynecology, Affiliated Hospital of Medical College of Qingdao University, Qingdao, China.
Gynecol Obstet Invest. 2011;72(2):130-4. Epub 2011 Apr 7.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Insulin resistance 
(SNP) rs2119882 in the MTNR1A gene 
Rotterdam criteria 
Related 
Han Chinese-482 PCOS and 522 controls 
SNP rs2119882 in the MTNR1A gene is associated with PCOS. 

 

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