MTNR1A (melatonin receptor 1A)

Gene

• Entrez ID: 4543
• Gene name: Melatonin receptor 1A
• Gene symbol: MTNR1A
• Synonyms: MEL-1A-R, MT1
• Chromosome: 4
• Chromosome location: 4q35.2
• 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17215244, 20859254, 25770211, 26514267, 28298427, 32296183
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	10531408
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	9645677
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	10531408
GO:0007617	Process	Mating behavior	TAS	7946354
GO:0007623	Process	Circadian rhythm	IBA	21873635
GO:0008502	Function	Melatonin receptor activity	IDA	10531408
GO:0042562	Function	Hormone binding	IPI	10531408
GO:0043235	Component	Receptor complex	IDA	10531408
GO:0097159	Function	Organic cyclic compound binding	IPI	10531408

Other IDs

• MIM: 600665
• HGNC: 7463
• e!Ensembl: ENSG00000168412

Protein

• UniProt ID: P48039
• Protein name: Melatonin receptor type 1A (Mel-1A-R) (Mel1a receptor)
• Protein 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. Possibly invo
• PDB: 6ME2, 6ME3, 6ME4, 6ME5, 7DB6, 7VGY, 7VGZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	44 → 295	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MQGNGSALPNASQPVLRGDGARPSWLASALACVLIFTIVVDILGNLLVILSVYRNKKLRN
  AGNIFVVSLAVADLVVAIYPYPLVLMSIFNNGWNLGYLHCQVSGFLMGLSVIGSIFNITG
  IAINRYCYICHSLKYDKLYSSKNSLCYVLLIWLLTLAAVLPNLRAGTLQYDPRIYSCTFA
  QSVSSAYTIAVVVFHFLVPMIIVIFCYLRIWILVLQVRQRVKPDRKPKLKPQDFRNFVTM
  FVVFVLFAICWAPLNFIGLAVASDPASMVPRIPEWLFVASYYMAYFNSCLNAIIYGLLNQ
  NFRKEYRRIIVSLCTARVFFVDSSNDVADRVKWKPSPLMTNNNVVKVDSV

• Sequence length: 350

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Circadian entrainment

Reactome:

Class A/1 (Rhodopsin-like receptors)
G alpha (i) signalling events

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	20657642
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21526376

Unknown
Disease name	Disease term	dbSNP ID	References
Retinal diseases	Retinal Diseases		21915336