Tag | Content |
---|---|
UniProt Accession | ESR1_HUMAN; P03372; |
Entrez ID | 2099 |
GenBank Protein ID | NM_000125.3; NM_001122740.1; NM_001122741.1; NM_001122742.1; NM_001291230.1; NM_001291241.1; NM_001328100.1; XM_006715375.3; XM_011535543.2; XM_011535544.2; XM_011535545.2; XM_017010376.1; XM_017010377.1; XM_017010378.1; XM_017010379.1; XM_017010380.1; XM_017010381.1; |
GenBank Nucleotide ID | NP_000116.2; NP_001116212.1; NP_001116213.1; NP_001116214.1; NP_001278159.1; NP_001278170.1; NP_001315029.1; XP_006715438.1; XP_011533845.1; XP_011533846.1; XP_011533847.1; XP_016865865.1; XP_016865866.1; XP_016865867.1; XP_016865868.1; XP_016865869.1; XP_016865870.1; |
Protein Name | Estrogen receptor (ER) (ER-alpha) (Estradiol receptor) (Nuclear receptor subfamily 3 group A member 1) |
Gene Name | ESR1; ESR; NR3A1 |
Organism | Homo sapiens |
NCBI Taxa ID | 9606 |
Functional Description | 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 subsequ(view all) |
Sequence (Fasta) | MTMTLHTKAS GMALLHQIQG NELEPLNRPQ LKIPLERPLG EVYLDSSKPA VYNYPEGAAY 60 EFNAAAAANA QVYGQTGLPY GPGSEAAAFG SNGLGGFPPL NSVSPSPLML LHPPPQLSPF 120 LQPHGQQVPY YLENEPSGYT VREAGPPAFY RPNSDNRRQG GRERLASTND KGSMAMESAK 180 ETRYCAVCND YASGYHYGVW SCEGCKAFFK RSIQGHNDYM CPATNQCTID KNRRKSCQAC 240 RLRKCYEVGM MKGGIRKDRR GGRMLKHKRQ RDDGEGRGEV GSAGDMRAAN LWPSPLMIKR 300 SKKNSLALSL TADQMVSALL DAEPPILYSE YDPTRPFSEA SMMGLLTNLA DRELVHMINW 360 AKRVPGFVDL TLHDQVHLLE CAWLEILMIG LVWRSMEHPG KLLFAPNLLL DRNQGKCVEG 420 MVEIFDMLLA TSSRFRMMNL QGEEFVCLKS IILLNSGVYT FLSSTLKSLE EKDHIHRVLD 480 KITDTLIHLM AKAGLTLQQQ HQRLAQLLLI LSHIRHMSNK GMEHLYSMKC KNVVPLYDLL 540 LEMLDAHRLH APTSRGGASV EETDQSHLAT AGSTSSHSLQ KYYITGEAEG FPATV 596 |
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Database | Annotation |
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Cancer Gene Census | breast |
CTD (Curated) (count: 38) (view all) | MESH:D000230
; Adenocarcinoma MESH:D000544 ; Alzheimer Disease MESH:D001254 ; Astrocytoma MESH:D050197 ; Atherosclerosis MESH:D001851 ; Bone Diseases, Metabolic MESH:D001943 ; Breast Neoplasms |
DisGeNet (Curated) (count: 69) (view all) | C0000889; Acanthosis Nigricans
C0001418; Adenocarcinoma C0002395; Alzheimer's Disease C0004114; Astrocytoma C0004153; Atherosclerosis C0005586; Bipolar Disorder |
HGMD (count: 16) (view all) | CE086654; Osteoporosis, association with; Repeat variations
CX952016; Osteoporosis, association with; Repeat variations CE067330; Reduced spermatogenesis in infertile men, assoc.; Repeat variations CE057923; Endothelial fibrinolytic regulation, assoc. wilth; Repeat variations CG084474; Infertility, male, association with; Gross deletions CG081034; Cleft lip and palate ?; Gross deletions |
GWASdb (count: 144) (view all) | rs2941740; Bone mineral density (hip); bone resorption disease
rs2941740; Breast cancer; breast cancer rs3020333; Bone mineral density (spine); bone resorption disease rs2982573; Bone mineral density (spine); bone resorption disease rs2982573; Breast cancer; breast cancer rs2982572; Breast cancer; breast cancer |
PTM | Modification Sites |
---|---|
Phosphorylation (count: 29) (view all) | 10 MTLHTKASGMALLHQ dbPAF
102 GGFPPLNSVSPSPLM dbPAF 104 FPPLNSVSPSPLMLL dbPAF 106 PLNSVSPSPLMLLHP dbPAF 118 LHPPPQLSPFLQPHG dbPAF 154 PAFYRPNSDNRRQGG dbPAF |
Acetylation (count: 7) (view all) | 266 RRGGRMLKHKRQRDD PLMD
268 GGRMLKHKRQRDDGE PLMD 299 WPSPLMIKRSKKNSL PLMD 302 PLMIKRSKKNSLALS PLMD 303 LMIKRSKKNSLALSL PLMD 472 TLKSLEEKDHIHRVL PLMD |
Ubiquitination (count: 1) | 302 PLMIKRSKKNSLALS PLMD |
Sumoylation (count: 8) (view all) | 171 RLASTNDKGSMAMES PLMD
180 SMAMESAKETRYCAV PLMD 266 RRGGRMLKHKRQRDD PLMD 268 GGRMLKHKRQRDDGE PLMD 299 WPSPLMIKRSKKNSL PLMD 302 PLMIKRSKKNSLALS PLMD |
Glycation (count: 1) | 299 WPSPLMIKRSKKNSL PLMD |
Methylation (count: 5) | 171 RLASTNDKGSMAMES PLMD
180 SMAMESAKETRYCAV PLMD 266 RRGGRMLKHKRQRDD PLMD 302 PLMIKRSKKNSLALS PLMD 401 RSMEHPGKLLFAPNL PLMD |