ID:ESR1_HUMAN DESCRIPTION: RecName: Full=Estrogen receptor; Short=ER; AltName: Full=ER-alpha; AltName: Full=Estradiol receptor; AltName: Full=Nuclear receptor subfamily 3 group A member 1; FUNCTION: Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA- binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF- kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA- binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Isoform 3 is involved in activation of NOS3 and endothelial nitric oxide production. Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full length receptor. Isoform 3 can bind to ERE and inhibit isoform 1. SUBUNIT: Binds DNA as a homodimer. Can form a heterodimer with ESR2. Isoform 3 can probably homodimerize or heterodimerize with isoform 1 and ESR2. Interacts with FOXC2, MAP1S, SLC30A9, UBE1C and NCOA3 coactivator (By similarity). Interacts with EP300; the interaction is estrogen-dependent and enhanced by CITED1. Interacts with CITED1; the interaction is estrogen-dependent. Interacts with NCOA5 and NCOA6 coactivators. Interacts with NCOA7; the interaction is a ligand-inducible. Interacts with PHB2, PELP1 and UBE1C. Interacts with AKAP13. Interacts with CUEDC2. Interacts with KDM5A. Interacts with SMARD1. Interacts with HEXIM1. Interacts with PBXIP1. Interaction with MUC1 is stimulated by 7 beta-estradiol (E2) and enhances ERS1-mediated transcription. Interacts with DNTTIP2, FAM120B and UIMC1. Interacts with isoform 4 of TXNRD1. Interacts with MLL2. Interacts with ATAD2 and this interaction is enhanced by estradiol. Interacts with KIF18A and LDB1. Interacts with RLIM (via C-terminus). Interacts with MACROD1. Interacts with SH2D4A and PLCG. Interaction with SH2D4A blocks binding to PLCG and inhibits estrogen-induced cell proliferation. Interacts with DYNLL1. Interacts with CCDC62 in the presence of estradiol/E2; this interaction seems to enhance the transcription of target genes. Interacts with NR2C1; the interaction prevents homodimerization of ESR1 and suppresses its transcriptional activity and cell growth. Interacts with DYX1C1. Interacts with PRMT2. Interacts with PI3KR1 or PI3KR2, SRC and PTK2/FAK1. Interacts with RBFOX2. Interacts with STK3/MST2 only in the presence of SAV1 and vice-versa. Binds to CSNK1D. Interacts with NCOA2; NCOA2 can interact with ESE1 AF-1 and AF-2 domains simultaneously and mediate their transcriptional synergy. Interacts with DDX5. Interacts with NCOA1; the interaction seems to require a self-association of N-terminal and C-terminal regions. Interacts with ZNF366, DDX17, NFKB1, RELA, SP1 and SP3. Interacts with NRIP1 (By similarity). INTERACTION: Self; NbExp=8; IntAct=EBI-78473, EBI-78473; Q12802:AKAP13; NbExp=3; IntAct=EBI-78473, EBI-1373806; Q9Y294:ASF1A; NbExp=2; IntAct=EBI-78473, EBI-749553; Q8IXJ9:ASXL1; NbExp=2; IntAct=EBI-78473, EBI-1646500; P59598:Asxl1 (xeno); NbExp=2; IntAct=EBI-78473, EBI-5743705; P62952:BLCAP; NbExp=2; IntAct=EBI-78473, EBI-3895726; P38398:BRCA1; NbExp=12; IntAct=EBI-78473, EBI-349905; P20290-2:BTF3; NbExp=5; IntAct=EBI-78473, EBI-1054703; Q99966:CITED1; NbExp=3; IntAct=EBI-78473, EBI-2624951; Q9H467:CUEDC2; NbExp=2; IntAct=EBI-78473, EBI-1248228; Q92841:DDX17; NbExp=7; IntAct=EBI-78473, EBI-746012; P17844:DDX5; NbExp=8; IntAct=EBI-78473, EBI-351962; O00429:DNM1L; NbExp=2; IntAct=EBI-78473, EBI-724571; P00533:EGFR; NbExp=4; IntAct=EBI-4309277, EBI-297353; Q12778:FOXO1; NbExp=2; IntAct=EBI-78473, EBI-1108782; O00165:HAX1; NbExp=2; IntAct=EBI-78473, EBI-357001; P05627:Jun (xeno); NbExp=6; IntAct=EBI-78473, EBI-764369; Q9BQ69:MACROD1; NbExp=4; IntAct=EBI-78473, EBI-5324932; Q00987:MDM2; NbExp=2; IntAct=EBI-78473, EBI-389668; O14686:MLL2; NbExp=3; IntAct=EBI-78473, EBI-996065; P60660:MYL6; NbExp=3; IntAct=EBI-78473, EBI-300817; Q15788:NCOA1; NbExp=5; IntAct=EBI-78473, EBI-455189; Q15596:NCOA2; NbExp=8; IntAct=EBI-78473, EBI-81236; Q9Y6Q9:NCOA3; NbExp=2; IntAct=EBI-78473, EBI-81196; Q9JLI4:Ncoa6 (xeno); NbExp=2; IntAct=EBI-78473, EBI-286271; Q9UN36:NDRG2; NbExp=2; IntAct=EBI-78473, EBI-3895741; P19838:NFKB1; NbExp=3; IntAct=EBI-78473, EBI-697771; Q96AQ6:PBXIP1; NbExp=9; IntAct=EBI-78473, EBI-740845; Q99623:PHB2; NbExp=4; IntAct=EBI-78473, EBI-358348; P53041:PPP5C; NbExp=4; IntAct=EBI-78473, EBI-716663; P55345:PRMT2; NbExp=5; IntAct=EBI-78473, EBI-78458; P60763:RAC3; NbExp=5; IntAct=EBI-78473, EBI-767084; O43251:RBFOX2; NbExp=4; IntAct=EBI-78473, EBI-746056; Q04206:RELA; NbExp=7; IntAct=EBI-78473, EBI-73886; Q14151:SAFB2; NbExp=2; IntAct=EBI-78473, EBI-352869; Q96HI0:SENP5; NbExp=2; IntAct=EBI-78473, EBI-3895753; P29353:SHC1; NbExp=2; IntAct=EBI-4309277, EBI-78835; P08047:SP1; NbExp=2; IntAct=EBI-78473, EBI-298336; Q02447:SP3; NbExp=2; IntAct=EBI-78473, EBI-348158; P12931:SRC; NbExp=2; IntAct=EBI-4309277, EBI-621482; Q8N895:ZNF366; NbExp=6; IntAct=EBI-78473, EBI-2813661; SUBCELLULAR LOCATION: Isoform 1: Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=A minor fraction is associated with the inner membrane. SUBCELLULAR LOCATION: Isoform 3: Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Single-pass type I membrane protein. Note=Associated with the inner membrane via palmitoylation (Probable). At least a subset exists as a transmembrane protein with a N-terminal extracellular domain. SUBCELLULAR LOCATION: Nucleus. Golgi apparatus. Cell membrane. Note=Colocalizes with ZDHHC7 and ZDHHC21 in the Golgi apparatus where most probably palmitoylation occurs. Associated with the plasma membrane when palmitoylated. TISSUE SPECIFICITY: Widely expressed. Isoform 3 is not expressed in the pituitary gland. DOMAIN: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. The modulating domain, also known as A/B or AF-1 domain has a ligand- independent transactivation function. The C-terminus contains a ligand-dependent transactivation domain, also known as E/F or AF-2 domain which overlaps with the ligand binding domain. AF-1 and AF- 2 activate transcription independently and synergistically and act in a promoter- and cell-specific manner. AF-1 seems to provide the major transactivation function in differentiated cells. PTM: Phosphorylated by cyclin A/CDK2 and CK1. Phosphorylation probably enhances transcriptional activity. Self-association induces phosphorylation. PTM: Glycosylated; contains N-acetylglucosamine, probably O- linked. PTM: Ubiquitinated. Deubiquitinated by OTUB1. PTM: Dimethylated by PRMT1 at Arg-260. The methylation may favor cytoplasmic localization. PTM: Palmitoylated (isoform 3). Not biotinylated (isoform 3). PTM: Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation, but not for signaling mediated by the nuclear hormone receptor. POLYMORPHISM: Genetic variations in ESR1 are correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disrutption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture. MISCELLANEOUS: Selective estrogen receptor modulators (SERMs), such as tamoxifen, raloxifene, toremifene, lasofoxifene, clomifene, femarelle and ormeloxifene, have tissue selective agonistic and antagonistic effects on the estrogen receptor (ER). They interfere with the ER association with coactivators or corepressors, mainly involving the AF-2 domain. SIMILARITY: Belongs to the nuclear hormone receptor family. NR3 subfamily. SIMILARITY: Contains 1 nuclear receptor DNA-binding domain. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/esr1/"; WEB RESOURCE: Name=Wikipedia; Note=Estrogen receptor entry; URL="http://en.wikipedia.org/wiki/Estrogen_receptor";
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.
ModBase Predicted Comparative 3D Structure on P03372
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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.
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. 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. 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. 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. X73067 - H. sapiens mRNA for estrogen receptor. EU447161 - Homo sapiens pineal gland estrogen receptor alpha splice variant mRNA, partial sequence, alternatively spliced. 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). LC516420 - Homo sapiens ESR1 mRNA for estrogen receptor alpha splice variant (ERalphai34), complete cds. X74439 - H.sapiens mRNA for estrogen receptor gene 5'flanking region. U68067 - Human estrogen receptor mRNA, alternatively spliced transcript E, partial cds. JD216920 - Sequence 197944 from Patent EP1572962. AY750962 - Homo sapiens estrogen receptor alpha mamillary body 1 isoform mRNA, partial cds, alternatively spliced. DQ163909 - Homo sapiens hippocampal estrogen receptor alpha isoform TADDI (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]. JD379541 - Sequence 360565 from Patent EP1572962. JD341451 - Sequence 322475 from Patent EP1572962. JD074240 - Sequence 55264 from Patent EP1572962. JD198919 - Sequence 179943 from Patent EP1572962. JD328912 - Sequence 309936 from Patent EP1572962. JD067708 - Sequence 48732 from Patent EP1572962. JD434890 - Sequence 415914 from Patent EP1572962. JD203457 - Sequence 184481 from Patent EP1572962. JD490763 - Sequence 471787 from Patent EP1572962. JD205564 - Sequence 186588 from Patent EP1572962. JD212020 - Sequence 193044 from Patent EP1572962. JD483114 - Sequence 464138 from Patent EP1572962. JD040609 - Sequence 21633 from Patent EP1572962. JD432690 - Sequence 413714 from Patent EP1572962. JD484390 - Sequence 465414 from Patent EP1572962. JD507379 - Sequence 488403 from Patent EP1572962. JD360237 - Sequence 341261 from Patent EP1572962. JD132227 - Sequence 113251 from Patent EP1572962. JD269875 - Sequence 250899 from Patent EP1572962. JD189184 - Sequence 170208 from Patent EP1572962. JD164815 - Sequence 145839 from Patent EP1572962. JD259929 - Sequence 240953 from Patent EP1572962. JD298533 - Sequence 279557 from Patent EP1572962. JD182582 - Sequence 163606 from Patent EP1572962. JD197033 - Sequence 178057 from Patent EP1572962. JD250210 - Sequence 231234 from Patent EP1572962. JD553168 - Sequence 534192 from Patent EP1572962. JD093770 - Sequence 74794 from Patent EP1572962. JD295569 - Sequence 276593 from Patent EP1572962. JD354292 - Sequence 335316 from Patent EP1572962. JD036469 - Sequence 17493 from Patent EP1572962. JD527086 - Sequence 508110 from Patent EP1572962. JD062310 - Sequence 43334 from Patent EP1572962. JD093953 - Sequence 74977 from Patent EP1572962. JD502240 - Sequence 483264 from Patent EP1572962. JD405524 - Sequence 386548 from Patent EP1572962. JD553108 - Sequence 534132 from Patent EP1572962. JD184381 - Sequence 165405 from Patent EP1572962. JD508293 - Sequence 489317 from Patent EP1572962. JD552118 - Sequence 533142 from Patent EP1572962. JD354637 - Sequence 335661 from Patent EP1572962. JD188405 - Sequence 169429 from Patent EP1572962. JD126450 - Sequence 107474 from Patent EP1572962. JD311431 - Sequence 292455 from Patent EP1572962. JD078973 - Sequence 59997 from Patent EP1572962. JD284940 - Sequence 265964 from Patent EP1572962.
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
Reactome (by CSHL, EBI, and GO)
Protein P03372 (Reactome details) participates in the following event(s):
R-HSA-8937369 ATAD2 binds ESR1 R-HSA-9008267 ESR1 binds to TGFA gene promoter R-HSA-9009541 ESR1 binds to TFF1 gene promoter R-HSA-376419 Formation of NR-MED1 Coactivator Complex R-HSA-6783238 OTUB1,(OTUB2) binds TP53, UBE2D1, ESR1 R-HSA-9038029 27-hydroxysterol binds ESR1, ESR2 R-HSA-1254386 ERBB4s80 forms a complex with estrogen receptor ESR1 R-HSA-8931981 RUNX1 binds ESR1 R-HSA-8932070 ESR1 binds the AXIN1 gene R-HSA-8939904 Activated ESR1 binds the RUNX2 gene promoter R-HSA-9011952 ESR1:ESTG and KDM4B bind H3K9me3 target gene enhancers R-HSA-9011983 Overexpressed HIST1H2AC and ESR1:ESTG bind MYC and BCL2 genes R-HSA-9011997 ESR1:ESTG, JUND:FOSB and Cohesin Complex bind distal enhancer elements in MYC gene promoter R-HSA-9018325 ESR1:ESTG binds CXXC5 gene R-HSA-9018499 ESR1:ESTG and EP300 are recruited to TFF3 promoter R-HSA-9018503 ESR1:ESTG bind the EBAG9 5' region R-HSA-9023845 ESR1:ESTG binds to proximal and distal regions of the CTSD promoter R-HSA-9038052 GREB1 binds ESR1:ESTG and co-activators R-HSA-9008258 NCOA3 binds ESR1:estrogen:TFGA gene R-HSA-9008270 NCOA1 binds ESR1:estrogen:TGFA gene R-HSA-9008271 CITED1 and EP300 bind ESR1:estrogen:TGFA gene promoter R-HSA-9009536 DDX5 binds ESR1:estrogen:TFF1 gene promoter R-HSA-8939201 ESR dimerizes R-HSA-8939203 HSP90-dependent ATP hydrolysis promotes release of ESR:ESTG from chaperone complex R-HSA-8939204 ESTG binds the ESR:chaperone complex R-HSA-8954207 ERBB4s80:ESR1 binds CXCL12 gene promoter R-HSA-8954208 ERBB4s80:ESR1 binds PGR gene promoter R-HSA-8932021 RUNX1 and ESR1 bind the GPAM gene enhancer R-HSA-8932037 RUNX1 and ESR1 bind the KCTD6 gene enhancer R-HSA-8932084 RUNX1 and ESR1 bind the AXIN1 gene R-HSA-9009371 Binding of AP1 transcriptional activator complexes to CCND1 promoter R-HSA-9011984 KDM1A is recruited to MYC and BCL2 genes R-HSA-9011981 EP300 is recruited to MYC and BCL2 genes R-HSA-9011985 KDM1A demethylates H3 on MYC and BCL genes in response to estrogen R-HSA-9011949 KDM4B demethylates H3K9me3 on estrogen-responsive target enhancers R-HSA-9012315 ESR1:ESTG:P-TEFb recruited to paused RNA polymerase II on MYB gene R-HSA-9023840 HATs and coactivators are recruited to the CTSD gene R-HSA-9008285 NCOA3 recruits EP300 to ESR1:estrogen:TFGA gene:NCOA3 R-HSA-9023884 NCOA1 recruits EP300 to TGFA promoter R-HSA-9009533 TBP and TFIIA bind TATA box on ESR1:estrogen bound TFF1 gene promoter R-HSA-9012319 p-TEFb phosphorylates serine 2 in RNA polymerase II CTD R-HSA-9009526 CARM1 binds TBP:TFIIA:DDX5:ESR1:estrogen:TFF1 gene R-HSA-9023861 PRMT1 binds TBP:TFIIA:DDX5:ESR1:estrogen:TFF1 gene R-HSA-9023860 Histone acetyltransferases are recruited to the TFF1 gene R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3 R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptors R-HSA-9018519 Estrogen-dependent gene expression R-HSA-8939211 ESR-mediated signaling R-HSA-383280 Nuclear Receptor transcription pathway R-HSA-5689896 Ovarian tumor domain proteases R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors R-HSA-1251985 Nuclear signaling by ERBB4 R-HSA-8931987 RUNX1 regulates estrogen receptor mediated transcription R-HSA-8939902 Regulation of RUNX2 expression and activity R-HSA-9006931 Signaling by Nuclear Receptors R-HSA-212436 Generic Transcription Pathway R-HSA-5688426 Deubiquitination R-HSA-8939256 RUNX1 regulates transcription of genes involved in WNT signaling R-HSA-1236394 Signaling by ERBB4 R-HSA-8878171 Transcriptional regulation by RUNX1 R-HSA-8878166 Transcriptional regulation by RUNX2 R-HSA-162582 Signal Transduction R-HSA-73857 RNA Polymerase II Transcription R-HSA-597592 Post-translational protein modification R-HSA-9006934 Signaling by Receptor Tyrosine Kinases R-HSA-74160 Gene expression (Transcription) R-HSA-392499 Metabolism of proteins R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer R-HSA-1257604 PIP3 activates AKT signaling R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling R-HSA-2219528 PI3K/AKT Signaling in Cancer R-HSA-9006925 Intracellular signaling by second messengers R-HSA-199418 Negative regulation of the PI3K/AKT network R-HSA-5663202 Diseases of signal transduction R-HSA-1643685 Disease R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3 R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer R-HSA-1257604 PIP3 activates AKT signaling R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling R-HSA-2219528 PI3K/AKT Signaling in Cancer R-HSA-9006925 Intracellular signaling by second messengers R-HSA-199418 Negative regulation of the PI3K/AKT network R-HSA-5663202 Diseases of signal transduction R-HSA-162582 Signal Transduction R-HSA-1643685 Disease R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3 R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer R-HSA-1257604 PIP3 activates AKT signaling R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling R-HSA-2219528 PI3K/AKT Signaling in Cancer R-HSA-9006925 Intracellular signaling by second messengers R-HSA-199418 Negative regulation of the PI3K/AKT network R-HSA-5663202 Diseases of signal transduction R-HSA-162582 Signal Transduction R-HSA-1643685 Disease
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Common Gene Haplotype Alleles 
