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GPER1 (G protein-coupled estrogen receptor 1)

Written2009-03Eric R Prossnitz
Cancer Research, Treatment Center, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA

(Note : for Links provided by Atlas : click)

Identity

Alias_namesCMKRL2
GPR30
GPER
G protein-coupled receptor 30
Alias_symbol (synonym)FEG-1
GPCR-Br
LERGU
LERGU2
DRY12
LyGPR
CEPR
Other aliasmER
HGNC (Hugo) GPER1
LocusID (NCBI) 2852
Atlas_Id 44344
Location 7p22.3  [Link to chromosome band 7p22]
Location_base_pair Starts at 1086807 and ends at 1093815 bp from pter ( according to hg19-Feb_2009)  [Mapping GPER1.png]
 
  Diagram from Entrez Gene.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

DNA/RNA

Note GPR30 is an estrogen-responsive GPCR (7-transmembrane G protein-coupled receptor).
 
  Alternate transcriptional splice variants (involving the 5' UTR region of the gene) have been characterized. Diagram from Entrez Gene.
Description The open reading frame of GPR30 is encoded by a single exon (1125 bp) located at chromosome 7p22.3.
Transcription GPR30 mRNA is about 3.0 kb in human with an 1125 bp open reading frame.

Protein

Description The gene encodes a 7-transmembrane G protein-coupled receptor (GPCR) of 375 amino acids.
Expression GPR30 is widely express throughout the body.
Localisation Predominantly in the Endoplasmic Reticulum.
Function Rapid and transcriptional responses to estrogen.
GPR30 is a 7-transmembrane G protein-coupled receptor (GPCR) that has been shown to be an estrogen responsive receptor, expressed predominantly in the endoplasmic reticulum. Signaling occurs via heterotrimeric G protein activation resulting in matrix-metalloproteinase activation, release of heparin-binding EGF and transactivation of EGFR with subsequent MAPK and Akt activation. Calcium mobilization has also been reported in multiple cell types including neurons. This protein plays a role in the rapid non-genomic signaling events often seen following stimulation with estrogen. Transcriptional activation has also been reported secondary to kinase activation. Actions of GPR30 can occur in parallel to those mediated by ERalpha and ERbeta in cells where multiple receptor are expressed, or in the absence of ERalpha and ERbeta. Note that GPR30 does not appear to mediate transcription via classical estrogen-response elements.
 
  Cellular activation by GPR30 and classical estrogen receptors (ERs). Receptor agonists and antagonists (indicated by upward and downward arrows, respectively) are shown for the indicated receptor (Tam, tamoxifen; G-1, GPR30-selective agonist; G15, GPR30-selective antagonist). Nuclear estrogen receptors classically mediate gene regulation although they can also mediate rapid signaling through kinases (not shown). GPR30 is found predominantly in the endoplasmic reticulum and mediates cell activation at least in part through the transactivation of EGFR leading to the stimulation of MAPK, PI3K and other rapid cellular processes, which can result in transcriptional activation.
Homology High homology between species. Low homology to other GPCRs.

Mutations

Note None

Implicated in

Note
  
Entity Cancer
Prognosis Expression levels correlated with HER-2/neu, tumor size and the presence of metastatic disease in breast cancer. Expression correlated with survival and high-risk disease in endometrial cancer. GPR30 mediates estrogen-dependent responses in breast, endometrial and ovarian cancer cell lines including proliferation and migration.
  
  
Entity Other
Note GPR30 has been implicated to play a role in estrogen-induced thymic atrophy, estrogen-mediated amelioration of autoimmune encephalomyelitis, depression, pain, vascular function and oocyte maturation.
  

Bibliography

Virtual and biomolecular screening converge on a selective agonist for GPR30.
Bologa CG, Revankar CM, Young SM, Edwards BS, Arterburn JB, Kiselyov AS, Parker MA, Tkachenko SE, Savchuck NP, Sklar LA, Oprea TI, Prossnitz ER.
Nat Chem Biol. 2006 Apr;2(4):207-12. Epub 2006 Mar 5.
PMID 16520733
 
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer.
Carmeci C, Thompson DA, Ring HZ, Francke U, Weigel RJ.
Genomics. 1997 Nov 1;45(3):607-17.
PMID 9367686
 
Distribution of GPR30, a seven membrane-spanning estrogen receptor, in primary breast cancer and its association with clinicopathologic determinants of tumor progression.
Filardo EJ, Graeber CT, Quinn JA, Resnick MB, Giri D, DeLellis RA, Steinhoff MM, Sabo E.
Clin Cancer Res. 2006 Nov 1;12(21):6359-66.
PMID 17085646
 
Regulatory role of G protein-coupled estrogen receptor for vascular function and obesity.
Haas E, Bhattacharya I, Brailoiu E, Damjanovic M, Brailoiu GC, Gao X, Mueller-Guerre L, Marjon NA, Gut A, Minotti R, Meyer MR, Amann K, Ammann E, Perez-Dominguez A, Genoni M, Clegg DJ, Dun NJ, Resta TC, Prossnitz ER, Barton M.
Circ Res. 2009 Feb 13;104(3):288-91. Epub 2009 Jan 29.
PMID 19179659
 
Discovery of three novel G-protein-coupled receptor genes.
O'Dowd BF, Nguyen T, Marchese A, Cheng R, Lynch KR, Heng HH, Kolakowski LF Jr, George SR.
Genomics. 1998 Jan 15;47(2):310-3.
PMID 9479505
 
Cloning of human cDNA encoding a novel heptahelix receptor expressed in Burkitt's lymphoma and widely distributed in brain and peripheral tissues.
Owman C, Blay P, Nilsson C, Lolait SJ.
Biochem Biophys Res Commun. 1996 Nov 12;228(2):285-92.
PMID 8920907
 
Estrogen signaling through the transmembrane G protein-coupled receptor GPR30.
Prossnitz ER, Arterburn JB, Smith HO, Oprea TI, Sklar LA, Hathaway HJ.
Annu Rev Physiol. 2008;70:165-90.
PMID 18271749
 
A transmembrane intracellular estrogen receptor mediates rapid cell signaling.
Revankar CM, Cimino DF, Sklar LA, Arterburn JB, Prossnitz ER.
Science. 2005 Mar 11;307(5715):1625-30. Epub 2005 Feb 10.
PMID 15705806
 
GPR30: a novel indicator of poor survival for endometrial carcinoma.
Smith HO, Leslie KK, Singh M, Qualls CR, Revankar CM, Joste NE, Prossnitz ER.
Am J Obstet Gynecol. 2007 Apr;196(4):386.e1-9; discussion 386.e9-11.
PMID 17403429
 
Cloning of cDNAs encoding G protein-coupled receptor expressed in human endothelial cells exposed to fluid shear stress.
Takada Y, Kato C, Kondo S, Korenaga R, Ando J.
Biochem Biophys Res Commun. 1997 Nov 26;240(3):737-41.
PMID 9398636
 
Identity of an estrogen membrane receptor coupled to a G protein in human breast cancer cells.
Thomas P, Pang Y, Filardo EJ, Dong J.
Endocrinology. 2005 Feb;146(2):624-32. Epub 2004 Nov 11.
PMID 15539556
 
GPR30 contributes to estrogen-induced thymic atrophy.
Wang C, Dehghani B, Magrisso IJ, Rick EA, Bonhomme E, Cody DB, Elenich LA, Subramanian S, Murphy SJ, Kelly MJ, Rosenbaum JS, Vandenbark AA, Offner H.
Mol Endocrinol. 2008 Mar;22(3):636-48. Epub 2007 Dec 6.
PMID 18063692
 

Citation

This paper should be referenced as such :
Prossnitz, Eric R
GPER (G protein-coupled estrogen receptor 1)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(2):114-116.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/GPERID44344ch7p22.html


External links

Nomenclature
HGNC (Hugo)GPER1   4485
Cards
AtlasGPERID44344ch7p22
Entrez_Gene (NCBI)GPER1  2852  G protein-coupled estrogen receptor 1
AliasesCEPR; CMKRL2; DRY12; FEG-1; 
GPCR-Br; GPER; GPR30; LERGU; LERGU2; LyGPR; mER
GeneCards (Weizmann)GPER1
Ensembl hg19 (Hinxton)ENSG00000164850 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164850 [Gene_View]  chr7:1086807-1093815 [Contig_View]  GPER1 [Vega]
ICGC DataPortalENSG00000164850
TCGA cBioPortalGPER1
AceView (NCBI)GPER1
Genatlas (Paris)GPER1
WikiGenes2852
SOURCE (Princeton)GPER1
Genetics Home Reference (NIH)GPER1
Genomic and cartography
GoldenPath hg38 (UCSC)GPER1  -     chr7:1086807-1093815 +  7p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GPER1  -     7p22.3   [Description]    (hg19-Feb_2009)
EnsemblGPER1 - 7p22.3 [CytoView hg19]  GPER1 - 7p22.3 [CytoView hg38]
Mapping of homologs : NCBIGPER1 [Mapview hg19]  GPER1 [Mapview hg38]
OMIM601805   
Gene and transcription
Genbank (Entrez)AB451427 AF015257 AK289588 AY265807 AY265808
RefSeq transcript (Entrez)NM_001031682 NM_001039966 NM_001098201 NM_001505
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GPER1
Cluster EST : UnigeneHs.20961 [ NCBI ]
CGAP (NCI)Hs.20961
Alternative Splicing GalleryENSG00000164850
Gene ExpressionGPER1 [ NCBI-GEO ]   GPER1 [ EBI - ARRAY_EXPRESS ]   GPER1 [ SEEK ]   GPER1 [ MEM ]
Gene Expression Viewer (FireBrowse)GPER1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2852
GTEX Portal (Tissue expression)GPER1
Human Protein AtlasENSG00000164850-GPER1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99527   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99527  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99527
Splice isoforms : SwissVarQ99527
PhosPhoSitePlusQ99527
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (EBI)GPCR_Rhodpsn    GPCR_Rhodpsn_7TM   
Domain families : Pfam (Sanger)7tm_1 (PF00001)   
Domain families : Pfam (NCBI)pfam00001   
Conserved Domain (NCBI)GPER1
DMDM Disease mutations2852
Blocks (Seattle)GPER1
SuperfamilyQ99527
Human Protein Atlas [tissue]ENSG00000164850-GPER1 [tissue]
Peptide AtlasQ99527
HPRD03484
IPIIPI00016025   IPI00385515   IPI00470558   IPI00893076   
Protein Interaction databases
DIP (DOE-UCLA)Q99527
IntAct (EBI)Q99527
FunCoupENSG00000164850
BioGRIDGPER1
STRING (EMBL)GPER1
ZODIACGPER1
Ontologies - Pathways
QuickGOQ99527
Ontology : AmiGOGolgi membrane  positive regulation of protein phosphorylation  positive regulation of protein phosphorylation  positive regulation of neurotransmitter secretion  negative regulation of leukocyte activation  chromatin binding  G-protein coupled receptor activity  steroid binding  protein binding  intracellular  nucleus  nuclear envelope  cytoplasm  early endosome  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  trans-Golgi network  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  inflammatory response  cell cycle  G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  positive regulation of cell proliferation  negative regulation of cell proliferation  positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway  positive regulation of gene expression  positive regulation of gene expression  negative regulation of gene expression  negative regulation of gene expression  negative regulation of cell cycle process  positive regulation of phosphatidylinositol 3-kinase signaling  postsynaptic density  mineralocorticoid receptor activity  neuronal action potential  cell junction  apoptotic chromosome condensation  nuclear fragmentation involved in apoptotic nuclear change  estrogen receptor activity  positive regulation of cell migration  axon  dendrite  intracellular steroid hormone receptor signaling pathway  cytoplasmic vesicle membrane  positive regulation of cAMP biosynthetic process  mineralocorticoid receptor signaling pathway  mitochondrial membrane  positive regulation of insulin secretion  dendritic spine membrane  positive regulation of inositol trisphosphate biosynthetic process  presynaptic membrane  positive regulation of apoptotic process  dendritic shaft  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  steroid hormone mediated signaling pathway  positive regulation of MAPK cascade  axon terminus  dendritic spine head  innate immune response  keratin filament  negative regulation of fat cell differentiation  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of G-protein coupled receptor protein signaling pathway  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  perinuclear region of cytoplasm  presynaptic active zone  negative regulation of inflammatory response  positive regulation of neurogenesis  negative regulation of DNA metabolic process  negative regulation of lipid biosynthetic process  positive regulation of release of sequestered calcium ion into cytosol  regulation of cytosolic calcium ion concentration  negative regulation of protein kinase B signaling  recycling endosome  negative regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of uterine smooth muscle contraction  negative regulation of cell cycle arrest  cellular response to glucose stimulus  cellular response to tumor necrosis factor  cellular response to peptide hormone stimulus  cellular response to mineralocorticoid stimulus  cellular response to estradiol stimulus  positive regulation of establishment of protein localization to plasma membrane  positive regulation of release of cytochrome c from mitochondria  positive regulation of blood vessel diameter  negative regulation of vascular smooth muscle cell proliferation  steroid hormone binding  positive regulation of endothelial cell apoptotic process  positive regulation of cardiac vascular smooth muscle cell differentiation  positive regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIGolgi membrane  positive regulation of protein phosphorylation  positive regulation of protein phosphorylation  positive regulation of neurotransmitter secretion  negative regulation of leukocyte activation  chromatin binding  G-protein coupled receptor activity  steroid binding  protein binding  intracellular  nucleus  nuclear envelope  cytoplasm  early endosome  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  trans-Golgi network  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  inflammatory response  cell cycle  G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  positive regulation of cell proliferation  negative regulation of cell proliferation  positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway  positive regulation of gene expression  positive regulation of gene expression  negative regulation of gene expression  negative regulation of gene expression  negative regulation of cell cycle process  positive regulation of phosphatidylinositol 3-kinase signaling  postsynaptic density  mineralocorticoid receptor activity  neuronal action potential  cell junction  apoptotic chromosome condensation  nuclear fragmentation involved in apoptotic nuclear change  estrogen receptor activity  positive regulation of cell migration  axon  dendrite  intracellular steroid hormone receptor signaling pathway  cytoplasmic vesicle membrane  positive regulation of cAMP biosynthetic process  mineralocorticoid receptor signaling pathway  mitochondrial membrane  positive regulation of insulin secretion  dendritic spine membrane  positive regulation of inositol trisphosphate biosynthetic process  presynaptic membrane  positive regulation of apoptotic process  dendritic shaft  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  steroid hormone mediated signaling pathway  positive regulation of MAPK cascade  axon terminus  dendritic spine head  innate immune response  keratin filament  negative regulation of fat cell differentiation  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of G-protein coupled receptor protein signaling pathway  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  perinuclear region of cytoplasm  presynaptic active zone  negative regulation of inflammatory response  positive regulation of neurogenesis  negative regulation of DNA metabolic process  negative regulation of lipid biosynthetic process  positive regulation of release of sequestered calcium ion into cytosol  regulation of cytosolic calcium ion concentration  negative regulation of protein kinase B signaling  recycling endosome  negative regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of uterine smooth muscle contraction  negative regulation of cell cycle arrest  cellular response to glucose stimulus  cellular response to tumor necrosis factor  cellular response to peptide hormone stimulus  cellular response to mineralocorticoid stimulus  cellular response to estradiol stimulus  positive regulation of establishment of protein localization to plasma membrane  positive regulation of release of cytochrome c from mitochondria  positive regulation of blood vessel diameter  negative regulation of vascular smooth muscle cell proliferation  steroid hormone binding  positive regulation of endothelial cell apoptotic process  positive regulation of cardiac vascular smooth muscle cell differentiation  positive regulation of extrinsic apoptotic signaling pathway  
Pathways : KEGGEstrogen signaling pathway   
REACTOMEQ99527 [protein]
REACTOME PathwaysR-HSA-418594 [pathway]   
NDEx NetworkGPER1
Atlas of Cancer Signalling NetworkGPER1
Wikipedia pathwaysGPER1
Orthology - Evolution
OrthoDB2852
GeneTree (enSembl)ENSG00000164850
Phylogenetic Trees/Animal Genes : TreeFamGPER1
HOVERGENQ99527
HOGENOMQ99527
Homologs : HomoloGeneGPER1
Homology/Alignments : Family Browser (UCSC)GPER1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGPER1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GPER1
dbVarGPER1
ClinVarGPER1
1000_GenomesGPER1 
Exome Variant ServerGPER1
ExAC (Exome Aggregation Consortium)ENSG00000164850
GNOMAD BrowserENSG00000164850
Genetic variants : HAPMAP2852
Genomic Variants (DGV)GPER1 [DGVbeta]
DECIPHERGPER1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGPER1 
Mutations
ICGC Data PortalGPER1 
TCGA Data PortalGPER1 
Broad Tumor PortalGPER1
OASIS PortalGPER1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDGPER1
BioMutasearch GPER1
DgiDB (Drug Gene Interaction Database)GPER1
DoCM (Curated mutations)GPER1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GPER1 (select a term)
intoGenGPER1
NCG5 (London)GPER1
Cancer3DGPER1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601805   
Orphanet
MedgenGPER1
Genetic Testing Registry GPER1
NextProtQ99527 [Medical]
TSGene2852
GENETestsGPER1
Target ValidationGPER1
Huge Navigator GPER1 [HugePedia]
snp3D : Map Gene to Disease2852
BioCentury BCIQGPER1
ClinGenGPER1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2852
Chemical/Pharm GKB GenePA28873
Clinical trialGPER1
Miscellaneous
canSAR (ICR)GPER1 (select the gene name)
Probes
Litterature
PubMed192 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGPER1
EVEXGPER1
GoPubMedGPER1
iHOPGPER1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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