ESR1 (estrogen receptor 1)

2003-02-01  

Identity

HGNC
ESR1
LOCATION
6q25.1
LOCUSID
2099
ALIAS
ER,ESR,ESRA,ESTRR,Era,NR3A1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2099
MIM: 133430
HGNC: 3467
Ensembl: ENSG00000091831

Variants:

dbSNP: 2099
ClinVar: 2099
TCGA: ENSG00000091831
COSMIC: ESR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091831ENST00000206249P03372
ENSG00000091831ENST00000206249G4XH65
ENSG00000091831ENST00000338799P03372
ENSG00000091831ENST00000338799G4XH65
ENSG00000091831ENST00000404742Q5T5H8
ENSG00000091831ENST00000406599Q9H2M1
ENSG00000091831ENST00000415488B0QYW7
ENSG00000091831ENST00000427531H0Y4W6
ENSG00000091831ENST00000440973P03372
ENSG00000091831ENST00000440973G4XH65
ENSG00000091831ENST00000443427P03372
ENSG00000091831ENST00000443427G4XH65
ENSG00000091831ENST00000446550Q9UE35
ENSG00000091831ENST00000456483Q9H2M2
ENSG00000091831ENST00000638569A0A1W2PP92

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Estrogen signaling pathwayKEGGhsa04915
Estrogen signaling pathwayKEGGko04915
Prolactin signaling pathwayKEGGhsa04917
Prolactin signaling pathwayKEGGko04917
Thyroid hormone signaling pathwayKEGGhsa04919
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Signal TransductionREACTOMER-HSA-162582
Signaling by ERBB4REACTOMER-HSA-1236394
Nuclear signaling by ERBB4REACTOMER-HSA-1251985
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Nuclear Receptor transcription pathwayREACTOMER-HSA-383280
Endocrine resistanceKEGGko01522
Endocrine resistanceKEGGhsa01522
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factorsREACTOMER-HSA-8864260
TFAP2 (AP-2) family regulates transcription of growth factors and their receptorsREACTOMER-HSA-8866910
DeubiquitinationREACTOMER-HSA-5688426
Ovarian tumor domain proteasesREACTOMER-HSA-5689896
Breast cancerKEGGko05224
Breast cancerKEGGhsa05224

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA152241907lapatinibChemicalLabelAnnotationassociated
PA164712331Alkylating AgentsChemicalClinicalAnnotationassociatedPD21430602
PA164746311everolimusChemicalLabelAnnotationassociated
PA164747170fulvestrantChemicalLabelAnnotation, Literature, MultilinkAnnotationassociated24185510, 24185512
PA164747674goserelinChemicalLabelAnnotationassociated
PA164754789conjugated estrogensChemicalClinicalAnnotationassociatedPD9860300
PA164920420olaparibChemicalLabelAnnotationassociated
PA165110439ixabepiloneChemicalLabelAnnotationassociated
PA165290933pertuzumabChemicalLabelAnnotationassociated
PA165291472neratinibChemicalLabelAnnotationassociated
PA166048848MenopauseDiseaseClinicalAnnotationassociatedPD27546373
PA166153469palbociclibChemicalLabelAnnotationassociated
PA166153470ribociclibChemicalLabelAnnotationassociated
PA166153471abemaciclibChemicalLabelAnnotationassociated
PA166182723eribulinChemicalLabelAnnotationassociated
PA166184523alpelisibChemicalLabelAnnotationassociated
PA361UGT2B7GeneLiterature, MultilinkAnnotationassociated24879639
PA37186UGT2B10GeneLiterature, MultilinkAnnotationassociated24879639
PA37188UGT2B15GeneLiterature, MultilinkAnnotationassociated24879639
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD21174621
PA443560Breast NeoplasmsDiseaseClinicalAnnotationassociatedPD26536870
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD21430602
PA447215Psychotic DisordersDiseaseClinicalAnnotationassociatedPD19386276
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD27546373
PA448432anastrozoleChemicalClinicalAnnotation, LabelAnnotationassociatedPD
PA449014cisplatinChemicalClinicalAnnotationassociatedPD21430602
PA449383docetaxelChemicalLabelAnnotationassociated
PA449415doxycyclineChemicalLiterature, MultilinkAnnotationassociated24185512
PA449563exemestaneChemicalClinicalAnnotation, LabelAnnotationassociatedPD26536870
PA450192leflunomideChemicalClinicalAnnotationassociatedPD21174621
PA450196letrozoleChemicalClinicalAnnotation, LabelAnnotationassociatedPD26536870
PA450344medroxyprogesteroneChemicalClinicalAnnotationassociatedPD9860300
PA450403methamphetamineChemicalClinicalAnnotationassociatedPD19386276
PA451221raloxifeneChemicalClinicalAnnotation, LabelAnnotationassociatedPD27546373
PA451581tamoxifenChemicalClinicalAnnotation, LabelAnnotation, Literature, MultilinkAnnotationassociatedPD17713466, 24185510, 24185512
PA451731toremifeneChemicalLabelAnnotationassociated
PA451743trastuzumabChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
198903232009An oestrogen-receptor-alpha-bound human chromatin interactome.665
160091312005Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1.610
171927852007Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.609
194360382009Ki67 index, HER2 status, and prognosis of patients with luminal B breast cancer.573
146755392003Estrogen receptor-alpha directs ordered, cyclical, and combinatorial recruitment of cofactors on a natural target promoter.561
241855102013Activating ESR1 mutations in hormone-resistant metastatic breast cancer.332
241855122013ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.326
192190422009Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.273
126674522003Cyclic, proteasome-mediated turnover of unliganded and liganded ERalpha on responsive promoters is an integral feature of estrogen signaling.260
195744862009Breast cancer subtypes based on ER/PR and Her2 expression: comparison of clinicopathologic features and survival.250

Citation

Dessen P

ESR1 (estrogen receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40499/esr1-(estrogen-receptor-1)