Esr1 Gene Summary [Mouse]
This gene encodes an estrogen receptor, a member of the nuclear hormone family of intracellular receptors. The encoded protein, activated by the sex hormone estrogen, is a transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Similar genes in human have been implicated in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Details
| Type | Processed Transcript |
| Official Symbol | Esr1 |
| Official Name | estrogen receptor 1 (alpha) [Source:MGI Symbol;Acc:MGI:1352467] |
| Ensembl ID | ENSMUSG00000019768 |
| Bio databases IDs | |
| Aliases | estrogen receptor 1 (alpha) |
| Synonyms | Alpha estrogen receptor, ER, ERa, ER-alpha, Er alpha (46 kDa isoform), ER-α, Er α (46 kDa isoform), ESR, ESRA, Estr, Estra, estrogen receptor, estrogen receptor 1, estrogen receptor 1 (alpha), estrogen receptor 1 (α), Estrogen receptor α, ESTRR, NR3A1, RNESTROR, TERP-1, α estrogen receptor |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Esr1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc finger DNA binding domain
- estrogen receptor alpha D domain
- steroid hormone receptor
- A/B region
- Coactivator binding pocket
- transcription factor binding
- identical protein binding
- fxfp sequence
- TATA-binding protein binding
- hormone binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- nuclear receptor ligand binding domain
- ligand-dependent nuclear receptor
- Oestrogen-type nuclear receptor final C-terminal
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- hormone binding
- activation domain
- palmitoylation site
- protein kinase binding
- nuclear export signal
- estrogen receptor C domain
- DNA binding domain
- calmodulin binding
- beta-catenin binding
- nucleic acid binding
- calmodulin binding domain
- estrogen receptor A domain
- protein binding
- sequence-specific DNA binding
- Erk1/2 phosphorylation site
- estrogen receptor alpha E/F domain
- striatin binding domain
- hinge domain
- tyrosine phosphorylation site
- LXXLL motif
- transcription regulator
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- G-protein-coupled receptor binding
- transcription activation domain
- AF-2 transcription activation domain
- chromatin binding
- estrogen receptor binding
- F domain
- estrogen binding domain
- AF-1 domain
- ligand-binding domain
- estrogen receptor
- Hinge/AF-2a domain
- A domain
- dimerization domain
- estrogen receptor A/B domain
- BRCA1-binding domain
- alpha helix
- nuclear localization sequence
- enzyme binding
- Oestrogen receptor
- receptor binding
- DNA binding
- steroid binding
- phosphorylation site
- a/b hammerhead domain
- ATPase binding
- phosphoinositide 3-kinase binding
- binding protein
- double-stranded DNA binding
- zinc finger domain
- PXXP motif
- estrogen receptor B domain
- Ligand-binding domain of nuclear hormone receptor
- C-terminal extension
Pathways
Biological processes and signaling networks where the Esr1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infection
- schizophrenia
- bipolar I disorder
- schizophreniform psychosis
- pain
- osteoarthritis
- metastatic breast cancer
- major depression
- diabetes mellitus
- depressive disorder
phenotypes
- abnormal B cell differentiation
- abnormal B cell number
- abnormal bone marrow cell number
- abnormal bone marrow cell physiology
- abnormal bone mineralization
- abnormal bone structure
- abnormal branching of the mammary ductal tree
- abnormal cell migration
- abnormal chondrocyte physiology
- abnormal class switch recombination
- abnormal cremaster muscle morphology
- abnormal definitive hematopoiesis
- abnormal efferent ductules of testis morphology
- abnormal endometrium morphology
- abnormal epididymis epithelium morphology
- abnormal epididymis morphology
- abnormal female reproductive system physiology
- abnormal hypothalamus morphology
- abnormal immunoglobulin level
- abnormal innervation
- abnormal internal male genitalia morphology
- abnormal kidney physiology
- abnormal long bone epiphyseal plate morphology
- abnormal lymph node cell ratio
- abnormal male reproductive system physiology
- abnormal mammary gland development
- abnormal maternal nurturing
- abnormal mating receptivity
- abnormal mesonephros morphology
- abnormal nociception after inflammation
- abnormal osteoclast physiology
- abnormal ovarian follicle morphology
- abnormal ovarian folliculogenesis
- abnormal ovary morphology
- abnormal physiological response to xenobiotic
- abnormal pituitary gland physiology
- abnormal pup retrieval
- abnormal reproductive system morphology
- abnormal response/metabolism to endogenous compounds
- abnormal rete testis morphology
- abnormal secondary ovarian follicle morphology
- abnormal seminiferous tubule epithelium morphology
- abnormal seminiferous tubule morphology
- abnormal skeleton development
- abnormal skeleton physiology
- abnormal social investigation
- abnormal spermatogenesis
- abnormal spleen physiology
- abnormal superovulation
- abnormal testis morphology
- abnormal testis weight
- abnormal thymus physiology
- abnormal uterus development
- abnormal uterus morphology
- abnormal uterus physiology
- abnormal vagina epithelium morphology
- abnormal vagina morphology
- abnormal vascular endothelial cell physiology
- abnormal vascular wound healing
- abnormal vasodilation
- abnormal vertebrae morphology
- abnormal volumetric bone mineral density
- absent corpus luteum
- absent estrous cycle
- absent mature ovarian follicles
- albuminuria
- altered response of heart to induced stress
- anovulation
- asthenozoospermia
- cortical renal glomerulopathies
- decreased B cell number
- decreased CD4-positive alpha beta T cell number
- decreased CD8-positive alpha-beta T cell number
- decreased aggression
- decreased aggression towards males
- decreased aggression towards mice
- decreased areal bone mineral density
- decreased birth weight
- decreased body length
- decreased body weight
- decreased bone mass
- decreased bone mineral content
- decreased bone mineral density
- decreased bone mineralization
- decreased bone ossification
- decreased bone strength
- decreased circulating estradiol level
- decreased circulating insulin-like growth factor I level
- decreased circulating osteocalcin level
- decreased circulating progesterone level
- decreased circulating prolactin level
- decreased circulating testosterone level
- decreased compact bone area
- decreased compact bone thickness
- decreased endometrial gland number
- decreased energy expenditure
- decreased heart weight
- decreased immature B cell number
- decreased lactotroph cell number
- decreased length of long bones
- decreased long bone epiphyseal plate size
- decreased lung weight
- decreased male germ cell number
- decreased mature B cell number
- decreased osteoblast cell number
- decreased ovulation rate
- decreased physiological sensitivity to xenobiotic
- decreased primordial ovarian follicle number
- decreased testis weight
- decreased thymocyte number
- decreased thymus weight
- decreased uterus weight
- decreased vertical activity
- decreased volumetric bone mineral density
- detached sperm flagellum
- dilated efferent ductules of testis
- dilated rete testis
- dilated seminiferous tubules
- endometrium hyperplasia
- enlarged endometrial glands
- enlarged uterus
- expanded mesangial matrix
- failure of ejaculation
- failure of embryo implantation
- female infertility
- glomerulonephritis
- hyperactivity
- hyporesponsive to tactile stimuli
- impaired fertilization
- impaired glucose tolerance
- impaired granulosa cell differentiation
- impaired ovarian folliculogenesis
- impaired passive avoidance behavior
- increased IgG3 level
- increased aggression towards females
- increased aggression towards mice
- increased anti-double stranded DNA antibody level
- increased body size
- increased body weight
- increased bone mineral density
- increased circulating HDL cholesterol level
- increased circulating cholesterol level
- increased circulating estradiol level
- increased circulating follicle stimulating hormone level
- increased circulating glucose level
- increased circulating leptin level
- increased circulating luteinizing hormone level
- increased circulating testosterone level
- increased compact bone area
- increased double-positive T cell number
- increased epididymal fat pad weight
- increased gonadal fat pad weight
- increased growth rate
- increased inguinal fat pad weight
- increased luteinizing hormone level
- increased mammary fat pad weight
- increased osteoclast cell number
- increased parametrial fat pad weight
- increased plasma cell number
- increased renal fat pad weight
- increased retroperitoneal fat pad weight
- increased spleen germinal center number
- increased theca cell number
- increased total body fat amount
- increased urine protein level
- increased uterus weight
- increased vertical activity
- increased volumetric bone mineral density
- increased white adipose tissue amount
- increased white fat cell number
- increased white fat cell size
- infertility
- insulin resistance
- male infertility
- no abnormal phenotype detected
- obese
- oligozoospermia
- ovarian follicular cyst
- ovary cysts
- ovary hemorrhage
- pup cannibalization
- reduced male fertility
- reduced male mating frequency
- renal glomerular immunoglobulin deposits
- renal glomerulus hypertrophy
- seminiferous tubule degeneration
- short femur
- short tibia
- short ulna
- small uterus
- spermatic granuloma
- teratozoospermia
- testicular atrophy
- thymus hypoplasia
- uterus cysts
- uterus hypoplasia
- vagina hypoplasia
role in cell
- phosphorylation in
- activation in
- cell viability
- expression in
- induction in
- degradation in
- quantity
- apoptosis
- proliferation
- upregulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- plasma membrane fraction
- nuclear fraction
- nucleoplasmic fraction
- soluble fraction
- chromatin fraction
- nuclear matrix fraction
- membrane fraction
- mitochondrial fraction
- Cytoplasm
- presynaptic regions
- cell surface
- perinuclear region
- postsynaptic region
- cellular membrane
- filamentous network
- actin cytoskeleton
- Plasma Membrane
- vesicles
- Mitochondria
- microtubules
- granules
- cytosol
- caveolar membranes
- caveolae
- mitochondrial membrane
- nuclear foci
- nucleoplasm
- nucleoli
- nuclear speckles
- nuclear matrix
- dendritic spines
- dendritic spine head
- synaptic vesicles
- dense-core vesicles
- endolysosomes
- transverse tubules
- microsomal membrane
- membrane rafts
- chromatin
- perikaryon
- axons
- dendrites
- axon terminals
- presynaptic terminals
- cytoplasmic fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Esr1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of smooth muscle cell apoptotic process
- vagina development
- response to estrogen stimulus
- male gonad development
- uterus development
- mammary gland branching involved in pregnancy
- epithelial cell development
- prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- positive regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of transcription from RNA polymerase II promoter
- regulation of branching involved in prostate gland morphogenesis
- prostate epithelial cord elongation
- fibroblast proliferation
- negative regulation of transcription from RNA polymerase II promoter
- RNA polymerase II transcriptional preinitiation complex assembly
- cellular response to estradiol stimulus
- chromatin remodeling
- stem cell differentiation
- mammary gland alveolus development
- positive regulation of transcription, DNA-dependent
- antral ovarian follicle growth
- positive regulation of fibroblast proliferation
- intracellular estrogen receptor signaling pathway
- epithelial cell proliferation involved in mammary gland duct elongation
- signal transduction
- regulation of toll-like receptor signaling pathway
- regulation of transcription, DNA-dependent
- negative regulation of sequence-specific DNA binding transcription factor activity
- phospholipase C-activating G-protein coupled receptor signaling pathway
- cellular response to estrogen stimulus
- elevation of cytosolic calcium ion concentration
- regulation of transcription from RNA polymerase II promoter
- negative regulation of gene expression
- androgen metabolic process
- intracellular steroid hormone receptor signaling pathway
- protein localization to chromatin
- response to estradiol stimulus
- regulation of inflammatory response
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- euchromatin
- cytoplasm
- membrane
- cytosol
- macromolecular complex
- Golgi apparatus
- chromatin
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- estrogen response element binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- steroid binding
- transcription coactivator binding
- sequence-specific DNA binding transcription factor activity
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
- TFIIB-class transcription factor binding
- TBP-class protein binding
- protein kinase binding
- zinc ion binding
- identical protein binding
- estrogen receptor activity
- chromatin binding
- beta-catenin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription corepressor binding
- transcription cofactor binding
- calmodulin binding
- protein binding
- estrogen receptor binding
- nitric-oxide synthase regulator activity
- 14-3-3 protein binding
- enzyme binding
- ATPase binding