• Gene id: 4543

Gene Summary

• Gene Symbol: MTNR1A   Gene   UCSC   Ensembl
• Aliases: MEL-1A-R, MT1
• Gene name: melatonin receptor 1A
• Alternate names: melatonin receptor type 1A, mel1a receptor,
• Gene location: 4q35.2 (186555566: 186532768)     Exons: 3     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 600665

SNPs

rs2656927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

Protein Summary

• Protein general information: P48039  
  • Name: Melatonin receptor type 1A (Mel 1A R) (Mel1a receptor)
  • Length: 350  
  • Mass: 39375
  • Tissue specificity: Expressed in hypophyseal pars tuberalis and hypothalamic suprachiasmatic nuclei (SCN). Hippocampus.
• Sequence:

  MQGNGSALPNASQPVLRGDGARPSWLASALACVLIFTIVVDILGNLLVILSVYRNKKLRNAGNIFVVSLAVADLV
  VAIYPYPLVLMSIFNNGWNLGYLHCQVSGFLMGLSVIGSIFNITGIAINRYCYICHSLKYDKLYSSKNSLCYVLL
  IWLLTLAAVLPNLRAGTLQYDPRIYSCTFAQSVSSAYTIAVVVFHFLVPMIIVIFCYLRIWILVLQVRQRVKPDR
  KPKLKPQDFRNFVTMFVVFVLFAICWAPLNFIGLAVASDPASMVPRIPEWLFVASYYMAYFNSCLNAIIYGLLNQ
  NFRKEYRRIIVSLCTARVFFVDSSNDVADRVKWKPSPLMTNNNVVKVDSV

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR002278  IPR000025  
  • Prosite: PS00237 PS50262
  • PDB: 6ME2 6ME3 6ME4 6ME5
  • PDBsum: 6ME2 6ME3 6ME4 6ME5
  • STRING: ENSP00000302811
• Other Databases: GeneCards:  MTNR1A  Malacards:  MTNR1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007623	circadian rhythm	IBA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0008502	melatonin receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007623	circadian rhythm	TAS	biological process
GO:0007187	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	biological process
GO:0007617	mating behavior	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008502	melatonin receptor activity	IDA	molecular function
GO:0042562	hormone binding	IPI	molecular function
GO:0097159	organic cyclic compound binding	IPI	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04713	Circadian entrainment

Diseases

Associated diseases	References
Huntington's disease	PMID:21994366
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)