Human Gene ESR1 (uc031sqd.1) Description and Page Index
  Description: Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.
RefSeq Summary (NM_001122742): 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].
Transcript (Including UTRs)
   Position: hg19 chr6:151,977,830-152,163,922 Size: 186,093 Total Exon Count: 4 Strand: +


Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:151,977,830-152,163,922)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneNetworkH-INV
HGNCLynxPubMedStanford SOURCEWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ESR1
CDC HuGE Published Literature: ESR1
Positive Disease Associations: acute myocardial infarction , age of menarche , Alcohol dependence , Alcoholism , Alzheimer's Disease , antisocial behavioural traits , blood pressure, arterial , body fat distribution , Body Height , bone density , bone density fractures, vertebral , bone mass , bone mineral density , Bone mineral density (hip) , Bone mineral density (spine) , breast cancer , calcium excretion , Carcinoma, Endometrioid|Endometrial Neoplasms| , cardiovascular disease , cognitive function , coronary artery disease , Death, Sudden, Cardiac , Diabetes Mellitus , dry eye syndrome , endometrial cancer , endometriosis , endometriosis adenomyosis and leiomyomata. , endothelial-dependent vasolidation , Forced Vital Capacity , idiopathic azoospermia , In Vitro Fertilization , Infertility, Male , lipid and apolipoprotein levels , male infertility , methamphetamine induced psychosis , myocardial infarction , Obesity, Morbid , osteopenia osteoporosis , osteoporosis , osteoporosis, postmenopausal , osteoporosis, postmenopausal; osteoporosis , osteoporotic fractures but polymorphisms , ovarian cancer , overall effect , ovulatory dysfunctions , prostate carcinoma , psychoses; neuroticism , quantitative calcaneal ultrasounds , radiographic osteoarthritis of the knee , Resistin , rheumatoid arthritis , scoliosis , serum low-density lipoprotein metabolism , spondylosis, lumbar , Uterine Prolapse , varicose ulcers
Related Studies:
  1. acute myocardial infarction
    Li Y et al. 2001, Association between estrogen receptor gene polymorphisms and acute myocardial infraction, Zhonghua yi xue za zhi. 2001 Apr;81(7):389-92. [PubMed 11798902]
    XbaI polymorphisms are not related to AMI. But PvuII polymorphisms are associated with AMI, they might be a risk factor for AMI.
  2. age of menarche
    Stavrou I et al. 2002, Association of polymorphisms of the oestrogen receptor alpha gene with the age of menarche., Hum Reprod. [PubMed 11925413]
  3. Alcohol dependence
    Treutlein ,et al. 2009, Genome-wide association study of alcohol dependence, Archives of general psychiatry 2009 66- 7 : 773-84. [PubMed 19581569]
           more ... click here to view the complete list

-  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.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  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.
AB685818 - Homo sapiens ESR1 mRNA for estrogen receptor alpha E1-2 variant, partial cds.
AB685819 - Homo sapiens ESR1 mRNA for estrogen receptor alpha E1-E2-2 variant, partial cds.
AB685820 - Homo sapiens ESR1 mRNA for estrogen receptor alpha E1-N2-E2-2 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.
AB588630 - Homo sapiens ESR1 mRNA for estrogen receptor alpha, partial cds, novel splicing F isoform, F-E2-E3-2.
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.
M69297 - Human estrogen receptor-related protein (variant ER from breast cancer) mRNA, complete cds.
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.
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.
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).
EF491789 - Homo sapiens clone ESR1 mRNA, partial sequence; alternatively spliced.
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.
FJ169504 - Homo sapiens estrogen receptor alpha delta 4,5,6,7 isoform (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.
LC516420 - Homo sapiens ESR1 mRNA for estrogen receptor alpha splice variant (ERalphai34), complete cds.

-  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: AB685820, uc021zgx.1
UCSC ID: uc031sqd.1
RefSeq Accession: NM_001122742

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: AB685820.1
exon count: 4CDS single in 3' UTR: no RNA size: 384
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 322.00frame shift in genome: no % Coverage: 100.00
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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