GPR50 G protein-coupled receptor 50 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPR50provided by HGNC
Official Full Name: G protein-coupled receptor 50provided by HGNC
Primary source: HGNC:HGNC:4506
See related: Ensembl:ENSG00000102195 MIM:300207; AllianceGenome:HGNC:4506
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: H9; Mel1c
Summary: This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatonin receptor 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder in women. [provided by RefSeq, Jan 2010]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (151176584..151182856)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (149444563..149450834)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (150345056..150349937)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GPR50-Ctail cleavage and nuclear translocation: a new signal transduction mode for G protein-coupled receptors.
Title: GPR50-Ctail cleavage and nuclear translocation: a new signal transduction mode for G protein-coupled receptors.
GPR50 promoter methylation level was decreased in the male Alzheimer's disease group compared with the male control group.
Title: Significant association between GPR50 hypomethylation and AD in males.
GPR50 is a TbetaRI co-receptor with potential impact on cancer development
Title: The orphan GPR50 receptor promotes constitutive TGFβ receptor signaling and protects against cancer development.
Pre-eclampsia (PE) plasma IgG1 anti-Epstein-Barr virus nuclear antigen 1 (EBNA-1) antibody cross-reacts with placental protein G protein-coupled receptor 50 (GPR50).
Title: A pre-eclampsia-associated Epstein-Barr virus antibody cross-reacts with placental GPR50.
The results provide deeper insight into the functional evolution of GPR50 in mammals at the molecular level
Title: Uneven evolutionary rate of the melatonin-related receptor gene (GPR50) in primates.
There was only weak female-specific association between GPR50 variants in late-life depression. No significant associations were observed in men.
Title: Involvement of GPR50 polymorphisms in depression: independent replication in a prospective elderly cohort.
study found an association between Seasonal Affective Disorder (SAD) and a single nucleotide polymorphism (intronic rs2072621) of the gene encoding GPR50 in females.
Title: Association of the intronic rs2072621 polymorphism of the X-linked GPR50 gene with affective disorder with seasonal pattern.
Positive expression of melatonin receptor can be found in human hypertrophic scar and normal skin, but it is higher in scar.
Title: [The expression of melatonin receptor in human hypertrophic scar].
we found 2 polymorphisms in the GPR50 receptor of patients with adolescent idiopathic scoliosis, but they were not present at a highly significant frequency when compared with controls
Title: Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis.
Antibodies were used to study the expression of GPR50 in mouse, rat and human hypothalamus.GPR50 immunoreactivity (ir) was observed in dorsomedial hypothalamic (DMH) cells and in cells of the ependymal layer of the third ventricle of the hypothalamus.
Title: Expression of the orphan GPR50 protein in rodent and human dorsomedial hypothalamus, tanycytes and median eminence.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables melatonin receptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: melatonin-related receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016405.2 RefSeqGene

Range

5001..9882

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004224.3 → NP_004215.2 melatonin-related receptor

See identical proteins and their annotated locations for NP_004215.2

Status: REVIEWED

Source sequence(s)

BC105683, BC105684, BP245442, U52219

Consensus CDS

CCDS44012.1

UniProtKB/Swiss-Prot

Q0VGG3, Q13585, Q3ZAR0

Related

ENSP00000218316.3, ENST00000218316.4

Conserved Domains (3) summary

pfam00001
Location:45 → 294

7tm_1; 7 transmembrane receptor (rhodopsin family)

pfam13254
Location:364 → 600

DUF4045; Domain of unknown function (DUF4045)

cl21561
Location:39 → 198

7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

151176584..151182856

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011531216.3 → XP_011529518.1 melatonin-related receptor isoform X1

Conserved Domains (2) summary

PRK14950
Location:261 → 344

PRK14950; DNA polymerase III subunits gamma and tau; Provisional

pfam00001
Location:2 → 47

7tm_1; 7 transmembrane receptor (rhodopsin family)