Human Gene ESR1 (ENST00000456483.3) Description and Page Index
  Description: estrogen receptor 1 (from HGNC ESR1)
RefSeq Summary (NM_000125): This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Mar 2014].
Gencode Transcript: ENST00000456483.3
Gencode Gene: ENSG00000091831.23
Transcript (Including UTRs)
   Position: hg38 chr6:151,807,679-152,098,978 Size: 291,300 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr6:151,807,913-151,880,661 Size: 72,749 Coding Exon Count: 2 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:151,807,679-152,098,978)mRNA (may differ from genome)Protein (152 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: ESR1
Diseases sorted by gene-association score: estrogen resistance* (1689), migraine with or without aura 1* (320), myocardial infarction* (156), breast cancer* (152), brca1 hereditary breast and ovarian cancer syndrome* (133), brca2 hereditary breast and ovarian cancer syndrome* (133), osteoporosis (27), estrogen-receptor negative breast cancer (26), breast ductal carcinoma (26), in situ carcinoma (25), endometrial cancer (25), progesterone-receptor positive breast cancer (24), myoma (22), vulvar syringoma (22), breast disease (22), inflammatory breast carcinoma (21), endometrial disease (20), estrogen-receptor positive breast cancer (19), vaginitis (18), endometrial adenocarcinoma (18), intravenous leiomyomatosis (18), leiomyoma (17), lobular neoplasia (17), female breast cancer (16), ductal carcinoma in situ (16), endometriosis (15), cervical adenocarcinoma (14), breast fibroadenoma (13), osteoporotic fracture (13), juvenile nasopharyngeal angiofibroma (13), pre-malignant neoplasm (13), sebaceous adenoma (12), trigonitis (12), cribriform carcinoma (12), luminal breast carcinoma (12), leiomyomatosis (12), lymphangioleiomyomatosis (12), endometrial stromal sarcoma (11), gynecomastia (11), glassy cell carcinoma of the cervix (10), adenomyosis (10), uterine disease (10), sporadic breast cancer (10), vestibular gland benign neoplasm (10), endometrial clear cell adenocarcinoma (10), bartholin's gland adenoma (10), breast myofibroblastoma (10), breast adenocarcinoma (10), prostatic hypertrophy (9), breast benign neoplasm (9), thoracic benign neoplasm (9), dental fluorosis (9), endocrine gland cancer (9), vulvar benign neoplasm (8), lung leiomyoma (8), progesterone resistance (8), endometrial squamous cell carcinoma (8), uterine fibroid (8), peritoneal mesothelioma (8), angiomyolipoma (8), vulvar vestibulitis syndrome (8), spondylolisthesis (8), fallopian tube carcinoma (8), vulvar leiomyoma (8), glomangiomyoma (8), ovarian cancer, somatic (8), adenosarcoma (8), sweat gland cancer (8), eccrine adenocarcinoma (8), adolescent idiopathic scoliosis (8), endometriosis of ovary (8), mammary paget's disease (8), leydig cell tumor (7), meningioma, familial (7), smooth muscle tumor (7), postmenopausal atrophic vaginitis (7), apocrine adenocarcinoma (7), breast scirrhous carcinoma (7), cardiomyopathy, familial hypertrophic, 9 (7), mucinous adenofibroma (7), trigeminal neuralgia (7), predominantly cortical thymoma (7), oncocytic breast carcinoma (7), gender identity disorder (7), tubular adenocarcinoma (7), reproductive organ benign neoplasm (7), uterine benign neoplasm (7), aromatase deficiency (7), comedo carcinoma (6), bartholin's gland benign neoplasm (6), idiopathic scoliosis (6), syringoma (6), hydrocele (6), vascular malformation (6), endocervical carcinoma (6), adenoid basal cell carcinoma (6), breast papillary carcinoma (6), triple-receptor negative breast cancer (6), female reproductive organ cancer (6), hidradenocarcinoma (5), breast medullary carcinoma (5), breast carcinoma in situ (5), breast metaplastic carcinoma (5), deep angioma (5), estrogen excess (5), postpartum depression (5), spondylosis (5), cervical clear cell adenocarcinoma (5), endometrial mucinous adenocarcinoma (5), colonic disease (5), cervical carcinosarcoma (5), gastric signet ring cell adenocarcinoma (5), endometritis (5), retinitis pigmentosa 20 (5), intramuscular hemangioma (5), breast adenoid cystic carcinoma (5), lipid-rich carcinoma (5), mixed cell type cancer (5), reproductive organ cancer (4), synchronous bilateral breast carcinoma (4), retinitis pigmentosa 47 (4), testicular leydig cell tumor (4), glycogen-rich clear cell breast carcinoma (4), epilepsy, familial temporal lobe, 3 (4), bone resorption disease (4), uterine sarcoma (4), short-rib thoracic dysplasia 5 with or without polydactyly (4), breast giant fibroadenoma (4), pancreatic mucinous cystadenoma (4), cryptorchidism (3), prostate cancer (2), adamantinoma of long bones (2), insulin-like growth factor i (2), bone remodeling disease (1), female reproductive system disease (1), reproductive system disease (1), cell type cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.81 RPKM in Cervix - Endocervix
Total median expression: 122.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -109.20234-0.467 Picture PostScript Text
3' UTR -236.40675-0.350 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001292 - Oestr_rcpt

Pfam Domains:
PF02159 - Oestrogen receptor

ModBase Predicted Comparative 3D Structure on Q9H2M2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005496 steroid binding
GO:0030284 estrogen receptor activity

Biological Process:
GO:0006355 regulation of transcription, DNA-templated
GO:0043401 steroid hormone mediated signaling pathway

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AK313644 - Homo sapiens cDNA, FLJ94220.
AK293019 - Homo sapiens cDNA FLJ77952 complete cds, highly similar to Homo sapiens mRNA for oestrogen receptor.
X03635 - Homo sapiens mRNA for oestrogen receptor.
AK304833 - Homo sapiens cDNA FLJ51616 complete cds, highly similar to Estrogen receptor.
AF258449 - Homo sapiens estrogen receptor alpha mRNA, complete cds, alternatively spliced.
AF258450 - Homo sapiens estrogen receptor alpha mRNA, complete cds, alternatively spliced.
AF258451 - Homo sapiens estrogen receptor alpha mRNA, complete cds, alternatively spliced.
M12674 - Human estrogen receptor mRNA, complete cds.
BC128573 - Homo sapiens estrogen receptor 1, mRNA (cDNA clone MGC:157708 IMAGE:40128594), complete cds.
BC128574 - Homo sapiens estrogen receptor 1, mRNA (cDNA clone MGC:157709 IMAGE:40128595), complete cds.
LC120330 - Homo sapiens ESR1 mRNA for human estrogen receptor alpha splice variant, ERalphai67, complete cds.
LC120329 - Homo sapiens ESR1 mRNA for human estrogen receptor alpha splice variant, ERalphaDup5, complete cds.
KJ891123 - Synthetic construct Homo sapiens clone ccsbBroadEn_00517 ESR1 gene, encodes complete protein.
KR711947 - Synthetic construct Homo sapiens clone CCSBHm_00032881 ESR1 (ESR1) mRNA, encodes complete protein.
KR711948 - Synthetic construct Homo sapiens clone CCSBHm_00032882 ESR1 (ESR1) mRNA, encodes complete protein.
AB587448 - Synthetic construct DNA, clone: pF1KB7810, Homo sapiens ESR1 gene for estrogen receptor 1, without stop codon, in Flexi system.
AB307713 - Homo sapiens NR3A1 mRNA for estrogen receptor 1, complete cds.
JF810888 - Homo sapiens estrogen nuclear receptor alpha (ESR1) mRNA, complete cds.
U47678 - Human 80 kDa estrogen receptor mRNA, containing exon 6 and 7 duplication, complete cds.
BX640939 - Homo sapiens mRNA; cDNA DKFZp686N23123 (from clone DKFZp686N23123).
FJ169500 - Homo sapiens estrogen receptor alpha delta 2*,3,4,5,6,7*/834 hypothalamic isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ411252 - Homo sapiens estrogen receptor alpha delta 2*,3,4,5,6,7 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ411256 - Homo sapiens estrogen receptor alpha delta 2*,3,4,5,6,7*/963 isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ011560 - Homo sapiens pituitary gland estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
EU982838 - Homo sapiens estrogen receptor alpha substantia nigra isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ147554 - Homo sapiens inferior temporal gyrus estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
GQ411250 - Homo sapiens estrogen receptor alpha delta 3*,4,5,6,7*/819-2 isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ147552 - Homo sapiens rostral hypothalamus estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
FJ011556 - Homo sapiens caudal hypothalamus estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
FJ011559 - Homo sapiens locus coeruleus estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
FJ712307 - Homo sapiens estrogen receptor alpha delta 3*4*,7 isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ169503 - Homo sapiens estrogen receptor alpha delta 4*,5,6*/481 hypothalamic isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ366704 - Homo sapiens estrogen receptor alpha 3*,4,5,6,7*/765 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ438790 - Homo sapiens estrogen receptor alpha 3*,4,5,6,7*/822 isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ169501 - Homo sapiens estrogen receptor alpha delta 3*,4,5,6,7*/775 hypothalamic isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ411258 - Homo sapiens estrogen receptor alpha delta 4 +49 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ389792 - Homo sapiens estrogen receptor alpha 2*,3,4,5,6,7*,8* isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ147556 - Homo sapiens choroid plexus estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
EU982840 - Homo sapiens estrogen receptor alpha cingulate gyrus isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ712306 - Homo sapiens estrogen receptor alpha delta 3*4,5,6,7*/840 isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ716812 - Homo sapiens estrogen receptor alpha delta 4*,5,6,7*/633 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ411255 - Homo sapiens estrogen receptor alpha delta 3*,4,5,6,7,8*/984 isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ011557 - Homo sapiens putamen estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
FJ716813 - Homo sapiens estrogen receptor alpha delta 3*,4,5,6,7*, 8*/912 isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ716815 - Homo sapiens estrogen receptor alpha delta 4*,5,6,7,8*/885 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ411253 - Homo sapiens estrogen receptor alpha delta 4*,5,6,7,8*/901 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ411254 - Homo sapiens estrogen receptor alpha delta 3*,4,5,6,7,8*/969 isoform (ESR1) mRNA, partial cds, alternatively spliced.
EU921455 - Homo sapiens estrogen receptor alpha delta 3,4,5,6 isoform (ESR1) mRNA, partial cds, alternatively spliced.
EU982839 - Homo sapiens estrogen receptor alpha superior frontal gyrus isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ011558 - Homo sapiens pineal gland estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
FJ147553 - Homo sapiens middle hypothalamus estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
FJ147555 - Homo sapiens spinal cord estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
FJ147557 - Homo sapiens rostral hypothalamus estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
FJ147558 - Homo sapiens caudal hypothalamus estrogen receptor alpha splice variant (ESR1) mRNA, partial cds, alternatively spliced.
FJ668387 - Homo sapiens estrogen receptor alpha delta 4,5,7 isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ712305 - Homo sapiens estrogen receptor alpha delta 3*4,5*,7 isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ716811 - Homo sapiens estrogen receptor alpha delta 4*,5,6,7,8*/918 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ438789 - Homo sapiens estrogen receptor alpha 3*,4,5,6,7,8*/1032 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ438793 - Homo sapiens estrogen receptor alpha 3*,4,5,6,7,8*/984 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ411257 - Homo sapiens estrogen receptor alpha delta 3*,4,5,6,7,8*/1029 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ411251 - Homo sapiens estrogen receptor alpha delta 3*,4,5,6,7*,8*/941 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ438792 - Homo sapiens estrogen receptor alpha 3*,4,5,6,7,8*/1068 isoform (ESR1) mRNA, partial cds, alternatively spliced.
X73067 - H. sapiens mRNA for estrogen receptor.
FJ169502 - Homo sapiens estrogen receptor alpha delta 4,7*,8*/581 hypothalamic isoform (ESR1) mRNA, partial cds, alternatively spliced.
FJ716814 - Homo sapiens estrogen receptor alpha delta 6,7 isoform (ESR1) mRNA, partial cds, alternatively spliced.
GQ438791 - Homo sapiens estrogen receptor alpha delta 4*,5,6,7*/654 isoform (ESR1) mRNA, partial cds, alternatively spliced.
AF120105 - Homo sapiens alternatively-spliced estrogen receptor alpha mRNA, partial cds.
S80316 - oestrogen receptor {alternatively spliced, exons 4 and 7} [human, endometrial liver, mRNA Partial Mutant, 144 nt].
AF242866 - Synthetic construct ECFP-estrogen receptor ligand binding domain fusion protein mRNA, complete cds.
AK304600 - Homo sapiens cDNA FLJ51617 complete cds, highly similar to Estrogen receptor.
AF172068 - Homo sapiens fatty acid synthase/estrogen receptor fusion protein (FAS/ER) mRNA, partial cds.
AF172069 - Homo sapiens fatty acid synthase/estrogen receptor fusion protein (FAS/ER) mRNA, partial cds.
Z75126 - H.sapiens mRNA for estrogen receptor (hormone binding region).
X86816 - H.sapiens estrogen receptor cDNA, 5' splice variant.
AB685814 - Homo sapiens ESR1 mRNA for estrogen receptor alpha E1-1-2 variant, partial cds.
AB685815 - Homo sapiens ESR1 mRNA for estrogen receptor alpha E1-E2-1-2 variant, partial cds.
AB685817 - Homo sapiens ESR1 mRNA for estrogen receptor alpha E1-N2-E2-1-2 variant, partial cds.
AB685816 - Homo sapiens ESR1 mRNA for estrogen receptor alpha E1-N1-E2-1 variant, partial cds.
U68068 - Human estrogen receptor mRNA, alternatively spliced transcript H, partial cds.
AK309580 - Homo sapiens cDNA, FLJ99621.
AB588629 - Homo sapiens ESR1 mRNA for estrogen receptor alpha, partial cds, novel splicing F isoform, F-E2-E3-1-2.
EU930361 - Homo sapiens estrogen receptor alpha delta 1*,2,3*/663 choroid plexus isoform (ESR1) mRNA, partial cds, alternatively spliced.
LC120323 - Homo sapiens ESR1 mRNA for human estrogen receptor alpha splice variant, CTERP-1, complete cds.
LC120324 - Homo sapiens ESR1 mRNA for human estrogen receptor alpha splice variant, ERalphai45a, complete cds.
LC120325 - Homo sapiens ESR1 mRNA for human estrogen receptor alpha splice variant, ERalphai45bL, complete cds.
LC120326 - Homo sapiens ESR1 mRNA for human estrogen receptor alpha splice variant, ERalphai45bS, complete cds.
LC120327 - Homo sapiens ESR1 mRNA for human estrogen receptor alpha splice variant, ERalphai45c, complete cds.
LC120328 - Homo sapiens ESR1 mRNA for human estrogen receptor alpha splice variant, ERalphai56, complete cds.
EU447161 - Homo sapiens pineal gland estrogen receptor alpha splice variant mRNA, partial sequence, alternatively spliced.
DQ163909 - Homo sapiens hippocampal estrogen receptor alpha isoform TADDI (ESR1) mRNA, partial cds, alternatively spliced.
X74439 - H.sapiens mRNA for estrogen receptor gene 5'flanking region.
U68067 - Human estrogen receptor mRNA, alternatively spliced transcript E, partial cds.
M69297 - Human estrogen receptor-related protein (variant ER from breast cancer) mRNA, complete cds.
JD216920 - Sequence 197944 from Patent EP1572962.
AY750962 - Homo sapiens estrogen receptor alpha mamillary body 1 isoform mRNA, partial cds, alternatively spliced.
FJ169504 - Homo sapiens estrogen receptor alpha delta 4,5,6,7 isoform (ESR1) mRNA, partial cds, alternatively spliced.
AK311064 - Homo sapiens cDNA, FLJ18106.
CQ753264 - Sequence 3 from Patent WO2004001045.
S79911 - estrogen receptor=ER delta E7 isoform {alternatively spliced isoform} [human, cell line T47D, mRNA Partial, 39 nt].

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_her2Pathway - Role of ERBB2 in Signal Transduction and Oncology
h_EfpPathway - Estrogen-responsive protein Efp controls cell cycle and breast tumors growth
h_pelp1Pathway - Pelp1 Modulation of Estrogen Receptor Activity
h_carm-erPathway - CARM1 and Regulation of the Estrogen Receptor
h_mta3Pathway - Downregulated of MTA-3 in ER-negative Breast Tumors

-  Other Names for This Gene
  Alternate Gene Symbols: AF258449, Q9H2M2, Q9H2M2_HUMAN, uc063shk.1
UCSC ID: uc063shk.1
RefSeq Accession: NM_000125
Protein: Q9H2M2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.