MTNR1A (melatonin receptor 1A)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4543
Gene name Melatonin receptor 1A
Gene symbol MTNR1A
Synonyms (NCBI Gene)
MEL-1A-RMT1
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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005515 Function Protein binding IPI 17215244, 20859254, 26514267, 28298427, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 10531408
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600665 7463 ENSG00000168412
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Expressed in hypophyseal pars tuberalis and hypothalamic suprachiasmatic nuclei (SCN). Hippocampus.
Sequence
Sequence length 350
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Circadian entrainment 		  Class A/1 (Rhodopsin-like receptors)
G alpha (i) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (84)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 27038909
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29982836 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 11298796
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 18794763, 21480980, 27840943
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 31815152 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 27038909
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 21615493
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 20377855, 20657642
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder CTD_human_DG 20657642
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 18979234, 19522736, 20050373, 22138747, 23330677, 23822714, 31092851, 31290783, 31358835, 9694254
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations