| URN | urn:agi-llid:2099 |
|---|---|
| Connectivity | 1472 |
| Name | Esr1 |
| Description | estrogen receptor 1 |
| Notes | 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 splicing results in several transcript variants, which differ in their 5' UTRs and use different promoters. [provided by RefSeq] |
| Pathway | estrogen signaling pathway |
|---|---|
| tamoxifen pharmacodynamics pathway |
| GO Molecular Function | transcription regulator activity |
|---|---|
| hormone binding | |
| lipid binding | |
| nitric-oxide synthase regulator activity | |
| transcription factor activity | |
| transcription factor binding | |
| protein complex binding | |
| steroid binding | |
| DNA binding | |
| sequence-specific DNA binding | |
| estrogen response element binding | |
| metal ion binding | |
| zinc ion binding | |
| receptor activity | |
| ligand-dependent nuclear receptor activity | |
| steroid hormone receptor activity | |
| estrogen receptor activity |
| GO Cellular Component | protein complex |
|---|---|
| perikaryon | |
| membrane | |
| plasma membrane | |
| neuron projection | |
| cytoplasm | |
| chromatin remodeling complex | |
| nucleus | |
| T-tubule | |
| terminal button |
| GO Biological Process | cell growth |
|---|---|
| mammary gland alveolus development | |
| antral ovarian follicle growth | |
| mammary gland branching involved in pregnancy | |
| prostate epithelial cord elongation | |
| vagina development | |
| uterus development | |
| male gonad development | |
| regulation of branching involved in prostate gland morphogenesis | |
| prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis | |
| epithelial cell development | |
| osteoblast development | |
| signal transduction | |
| negative regulation of mitosis | |
| positive regulation of retinoic acid receptor signaling pathway | |
| regulation of transcription | |
| positive regulation of transcription from RNA polymerase II promoter | |
| regulation of transcription, DNA-dependent | |
| positive regulation of fibroblast proliferation | |
| positive regulation of survival gene product expression | |
| neuroprotection | |
| androgen metabolic process | |
| transcription | |
| transcription, DNA-dependent | |
| epithelial cell proliferation involved in mammary gland duct elongation | |
| response to estrogen stimulus | |
| response to estradiol stimulus | |
| estrogen receptor signaling pathway |
| Ariadne Ontology | Estrogen-like |
|---|
| Group | Estrogen-like |
|---|---|
| transcription regulator activity | |
| cell growth | |
| mammary gland alveolus development | |
| antral ovarian follicle growth | |
| mammary gland branching involved in pregnancy | |
| prostate epithelial cord elongation | |
| vagina development | |
| uterus development | |
| male gonad development | |
| regulation of branching involved in prostate gland morphogenesis | |
| prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis | |
| epithelial cell development | |
| osteoblast development | |
| signal transduction | |
| negative regulation of mitosis | |
| positive regulation of retinoic acid receptor signaling pathway | |
| regulation of transcription | |
| positive regulation of transcription from RNA polymerase II promoter | |
| regulation of transcription, DNA-dependent | |
| positive regulation of fibroblast proliferation | |
| positive regulation of survival gene product expression | |
| neuroprotection | |
| androgen metabolic process | |
| transcription | |
| transcription, DNA-dependent | |
| epithelial cell proliferation involved in mammary gland duct elongation | |
| response to estrogen stimulus | |
| response to estradiol stimulus | |
| estrogen receptor signaling pathway | |
| hormone binding | |
| lipid binding | |
| nitric-oxide synthase regulator activity | |
| transcription factor activity | |
| transcription factor binding | |
| protein complex binding | |
| steroid binding | |
| DNA binding | |
| sequence-specific DNA binding | |
| estrogen response element binding | |
| metal ion binding | |
| zinc ion binding | |
| receptor activity | |
| ligand-dependent nuclear receptor activity | |
| steroid hormone receptor activity | |
| estrogen receptor activity | |
| protein complex | |
| perikaryon | |
| membrane | |
| plasma membrane | |
| neuron projection | |
| cytoplasm | |
| chromatin remodeling complex | |
| nucleus | |
| T-tubule | |
| terminal button |
| MedScan ID | 2099 |
|---|
| Hugo ID | 3467 |
|---|
| Human chromosome position | 6q25.1 |
|---|
| LocusLink ID | 2099 |
|---|---|
| 13982 | |
| 24890 |
| Alias | ER |
|---|---|
| ESR | |
| Era | |
| ESRA | |
| NR3A1 | |
| DKFZp686N23123 | |
| RP1-130E4.1 | |
| estrogen receptor | |
| ER-alpha | |
| estradiol receptor | |
| estrogen receptor alpha delta 4 +49 isoform | |
| nuclear receptor subfamily 3 group A member 1 | |
| estrogen receptor alpha delta 4*,5,6,7*/654 isoform | |
| estrogen receptor alpha delta 3*,4,5,6,7*/819-2 isoform | |
| Estr | |
| ER[a] | |
| Estra | |
| ERalpha | |
| AA420328 | |
| AU041214 | |
| OTTMUSP00000022868 | |
| OTTMUSP00000022869 | |
| OTTMUSP00000022870 | |
| estrogen receptor alpha variant U1 | |
| estrogen receptor alpha variant U2 | |
| RNESTROR | |
| Er alpha | |
| Estrogen receptor alpha | |
| estrogen receptor protein | |
| estrogen receptor 1 (alpha) | |
| dj443c4.1.1 | |
| dj443c4.1.1 (estrogen receptor 1) | |
| ESR I | |
| ESR1 | |
| ESR1_HUMAN | |
| estradiol receptor alpha | |
| estrogen receptor 1 | |
| estrogen receptor I | |
| membrane ERalpha | |
| membrane estrogen receptor alpha | |
| membrane-bound ERalpha | |
| membrane-bound estrogen receptor alpha | |
| mERalpha | |
| mER-alpha | |
| NR3A I | |
| oestrogen receptor 1 | |
| oestrogen receptor 1 (alpha) | |
| oestrogen receptor alpha | |
| oestrogen receptor I | |
| OTTHUMP00000017718 | |
| OTTHUMP00000017719 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 133430 |
|---|---|
| 157300 | |
| 608446 |
| Mouse chromosome position | 10 12.0 cM |
|---|
| GO ID | 0030284 |
|---|---|
| 0034056 | |
| 0042562 | |
| 0046872 | |
| 0030235 | |
| 0032403 | |
| 0043565 | |
| 0005496 | |
| 0003707 | |
| 0003700 | |
| 0008134 | |
| 0008270 | |
| 0008209 | |
| 0001547 | |
| 0002064 | |
| 0060750 | |
| 0030520 | |
| 0008584 | |
| 0060749 | |
| 0060745 | |
| 0043526 | |
| 0002076 | |
| 0048146 | |
| 0048386 | |
| 0045885 | |
| 0060527 | |
| 0060523 | |
| 0060687 | |
| 0006355 | |
| 0032355 | |
| 0007165 | |
| 0006351 | |
| 0060065 | |
| 0060068 | |
| 0030315 | |
| 0016585 | |
| 0005737 | |
| 0016020 | |
| 0043005 | |
| 0005634 | |
| 0043204 | |
| 0005886 | |
| 0043195 | |
| 0003677 | |
| 0004879 | |
| 0008289 | |
| 0004872 | |
| 0030528 | |
| 0016049 | |
| 0045839 | |
| 0045449 | |
| 0043627 | |
| 0006350 | |
| 0043234 | |
| 0045944 |
| Rat chromosome position | 1q12 |
|---|
| Swiss-Prot Accession | P03372 |
|---|---|
| Q5T5H7 | |
| Q9UBT1 | |
| A0A4R1 | |
| Q14267 | |
| Q14268 | |
| Q16405 | |
| Q5C8S5 | |
| Q6MZQ9 | |
| Q9H1Z6 | |
| Q9H2M1 | |
| Q9H2M2 | |
| Q9UE35 | |
| Q9Y2W8 | |
| P19785 | |
| Q3UT58 | |
| Q3UWN0 | |
| P06211 | |
| Q6LAN9 | |
| Q13511 | |
| Q14276 | |
| Q9NU51 | |
| Q9UDZ7 | |
| Q9UIS7 | |
| Q9JJT5 | |
| Q9QY51 | |
| Q9QY52 |
| PIR ID | S64737 |
|---|---|
| S07379 | |
| A40061 |
| Unigene ID | Hs.208124 |
|---|---|
| Mm.9213 | |
| Mm.463262 | |
| Rn.10595 |
| KEGG ID | hsa:2099 |
|---|---|
| mmu:13982 | |
| rno:24890 |
| Swiss-Prot ID | ESR1_HUMAN |
|---|---|
| ESR1_RAT | |
| ESR1_MOUSE | |
| Q9UBT1_HUMAN | |
| Q5T5H7_HUMAN |
| Cell Localization | Nucleus |
|---|
| IPI ID | IPI00218352 |
|---|---|
| IPI00294982 | |
| IPI00201392 | |
| IPI00117980 | |
| IPI00879773 | |
| IPI00807600 | |
| IPI00910582 | |
| IPI00815884 | |
| IPI00877891 | |
| IPI00902535 | |
| IPI00878052 | |
| IPI00830553 |
| Homologene ID | 47906 |
|---|
| RGD ID | 2581 |
|---|
| MGI ID | 1352467 |
|---|