GPER1 G protein-coupled estrogen receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPER1provided by HGNC
Official Full Name: G protein-coupled estrogen receptor 1provided by HGNC
Primary source: HGNC:HGNC:4485
See related: Ensembl:ENSG00000164850 MIM:601805; AllianceGenome:HGNC:4485
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: mER; CEPR; GPER; DRY12; FEG-1; GPR30; LERGU; LyGPR; CMKRL2; LERGU2; GPCR-Br
Summary: This gene encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum and a member of the G-protein coupled receptor 1 family. This receptor binds estrogen and activates multiple downstream signaling pathways, leading to stimulation of adenylate cyclase and an increase in cyclic AMP levels, while also promoting intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. This receptor has been shown to play a role in diverse biological processes, including bone and nervous system development, metabolism, cognition, male fertility and uterine function. [provided by RefSeq, Aug 2017]
Expression: Broad expression in fat (RPKM 4.9), kidney (RPKM 3.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p22.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (1087118..1093810)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (1192020..1198681)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (1126754..1133446)

Chromosome 7 - NC_000007.14 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?

GPR30 is a potential player between islet cells and ductal HCO3[-] secretion.
Title: GPR30 is a potential player between islet cells and ductal HCO(3)(-) secretion.
The GPR30 Receptor Is Involved in IL-6-Induced Metastatic Properties of MCF-7 Luminal Breast Cancer Cells.
Title: The GPR30 Receptor Is Involved in IL-6-Induced Metastatic Properties of MCF-7 Luminal Breast Cancer Cells.
G-protein coupled estrogen receptor 1, amyloid-beta, and tau tangles in older adults.
Title: G-protein coupled estrogen receptor 1, amyloid-β, and tau tangles in older adults.
Selective Activation of G Protein-coupled Estrogen Receptor 1 Attenuates Atherosclerosis.
Title: Selective Activation of G Protein-coupled Estrogen Receptor 1 Attenuates Atherosclerosis.
Estetrol/GPER/SERPINB2 transduction signaling inhibits the motility of triple-negative breast cancer cells.
Title: Estetrol/GPER/SERPINB2 transduction signaling inhibits the motility of triple-negative breast cancer cells.
G-protein-coupled estrogen receptor 1 promotes peritoneal metastasis of gastric cancer through nicotinamide adenine dinucleotide kinase 1-mediated redox modulation.
Title: G-protein-coupled estrogen receptor 1 promotes peritoneal metastasis of gastric cancer through nicotinamide adenine dinucleotide kinase 1-mediated redox modulation.
Regulatory mechanism of GPER in the invasion and migration of ectopic endometrial stromal cells in endometriosis.
Title: Regulatory mechanism of GPER in the invasion and migration of ectopic endometrial stromal cells in endometriosis.
G protein-coupled estrogen receptor (GPER)/GPR30 forms a complex with the beta1-adrenergic receptor, a membrane-associated guanylate kinase (MAGUK) scaffold protein, and protein kinase A anchoring protein (AKAP) 5 in MCF7 breast cancer cells.
Title: G protein-coupled estrogen receptor (GPER)/GPR30 forms a complex with the β(1)-adrenergic receptor, a membrane-associated guanylate kinase (MAGUK) scaffold protein, and protein kinase A anchoring protein (AKAP) 5 in MCF7 breast cancer cells.
The detection of Gper1 as an important gene promoting jawbone regeneration in the context of estrogen deficiency.
Title: The detection of Gper1 as an important gene promoting jawbone regeneration in the context of estrogen deficiency.
GPER: An Estrogen Receptor Key in Metastasis and Tumoral Microenvironments.
Title: GPER: An Estrogen Receptor Key in Metastasis and Tumoral Microenvironments.

Submit: New GeneRIF Correction See all GeneRIFs (271)

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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Markers

D7S2826 (e-PCR)
- UniSTS:21871

RH11876 (e-PCR)
- UniSTS:37495

GPR30 (e-PCR)
- UniSTS:504740

RH70704 (e-PCR)
- UniSTS:27111

D7S2090E (e-PCR)
- UniSTS:41970

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled estrogen receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables G protein-coupled receptor activity	TAS Traceable Author Statement more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear estrogen receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear estrogen receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables steroid binding	IDA Inferred from Direct Assay more info	PubMed
enables steroid hormone binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic chromosome condensation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to estradiol stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to estradiol stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to mineralocorticoid stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to peptide hormone stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to tumor necrosis factor	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell cycle process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of leukocyte activation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lipid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in neuronal action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in nuclear fragmentation involved in apoptotic nuclear change	ISS Inferred from Sequence or Structural Similarity more info
involved_in nuclear receptor-mediated steroid hormone signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear receptor-mediated steroid hormone signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cardiac vascular smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endothelial cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of extrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of inositol trisphosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neurotransmitter secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of release of cytochrome c from mitochondria	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of uterine smooth muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in steroid hormone receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_positive_effect vasodilation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic shaft	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine head	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in hippocampal mossy fiber to CA3 synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in keratin filament	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
NOT located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic active zone	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: G-protein coupled estrogen receptor 1

Names: G protein-coupled receptor 30; IL8-related receptor DRY12; chemoattractant receptor-like 2; chemokine receptor-like 2; constitutively expressed peptide-like receptor; flow-induced endothelial G-protein coupled receptor 1; heptahelix receptor; lymphocyte-derived G-protein coupled receptor; membrane estrogen 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.

mRNA and Protein(s)

NM_001039966.2 → NP_001035055.1 G-protein coupled estrogen receptor 1

See identical proteins and their annotated locations for NP_001035055.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript. Variants 2, 3, and 4 encode the same protein.

Source sequence(s)

BC082766, DA014990, U63917

Consensus CDS

CCDS5322.1

UniProtKB/Swiss-Prot

A8K6C5, B5BUJ1, O00143, O43494, Q13631, Q6FHL1, Q96F42, Q99527, Q99981

UniProtKB/TrEMBL

A8K0M3, Q6FHU6

Related

ENSP00000380281.1, ENST00000397092.5

Conserved Domains (1) summary

cd14989
Location:60 → 335

7tmA_GPER1; G protein-coupled estrogen receptor 1, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001098201.3 → NP_001091671.1 G-protein coupled estrogen receptor 1

See identical proteins and their annotated locations for NP_001091671.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. Variants 2-4 encode the same protein.

Source sequence(s)

BC082766, DC381205, U63917

Consensus CDS

CCDS5322.1

UniProtKB/Swiss-Prot

A8K6C5, B5BUJ1, O00143, O43494, Q13631, Q6FHL1, Q96F42, Q99527, Q99981

UniProtKB/TrEMBL

A8K0M3, Q6FHU6

Related

ENSP00000380277.3, ENST00000397088.4

Conserved Domains (1) summary

cd14989
Location:60 → 335

7tmA_GPER1; G protein-coupled estrogen receptor 1, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001505.3 → NP_001496.1 G-protein coupled estrogen receptor 1

See identical proteins and their annotated locations for NP_001496.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 2, 3, and 4 encode the same protein.

Source sequence(s)

AF015257, BC082766

Consensus CDS

CCDS5322.1

UniProtKB/Swiss-Prot

A8K6C5, B5BUJ1, O00143, O43494, Q13631, Q6FHL1, Q96F42, Q99527, Q99981

UniProtKB/TrEMBL

A8K0M3, Q6FHU6

Related

ENSP00000297469.3, ENST00000297469.3

Conserved Domains (1) summary

cd14989
Location:60 → 335

7tmA_GPER1; G protein-coupled estrogen receptor 1, member of the class A family of seven-transmembrane G protein-coupled receptors

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_000007.14 Reference GRCh38.p14 Primary Assembly

Range

1087118..1093810

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

1192020..1198681

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001031682.1: Suppressed sequence

Description

NM_001031682.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.