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Basic Information Integrated Annotations
Tag Content
UUCD2 ID IUUC-Hsa-046944
Ensembl Protein ID ENSP00000342630.5
UniProt Accession P03372; Q13511; Q14276; Q5T5H7; Q6MZQ9; Q9NU51; Q9UDZ7; Q9UIS7; ESR1_HUMAN
Genbank Protein ID CAA27284.1; AAA52399.1; AAB00115.1; AAQ91815.1; CAE45969.1; CAI21012.1; CAI21012.1; CAI21012.1; CAI21012.1; CAI22123.1; CAI22123.1; CAI22123.1; CAI22123.1; CAI14237.1; CAI14237.1; CAI14237.1; CAI14237.1; CAI42285.1; CAI42285.1; CAI42285.1; EAW47740.1; AAI28574.1; AAI28575.1; AAD52984.1; CAA51528.1; CAA99436.1
Protein Name Estrogen receptor; ER-alpha; Estradiol receptor; Nuclear receptor subfamily 3 group A member 1
Genbank Nucleotide ID X03635; M12674; U47678; AY425004; BX640939; AL356311; AL049821; AL078582; AL590993; AL049821; AL078582; AL356311; AL590993; AL590993; AL049821; AL078582; AL356311; AL078582; AL356311; AL590993; CH471051; BC128573; BC128574; AH008151; X73067; Z75126
Gene Name ESR1; ESR; NR3A1
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000091831.21 ENST00000338799.9 ENSP00000342630.5
ENSG00000091831.21 ENST00000406599.5 ENSP00000384064.1
ENSG00000091831.21 ENST00000427531.6 ENSP00000394721.2
ENSG00000091831.21 ENST00000415488.1 ENSP00000401995.1
ENSG00000091831.21 ENST00000456483.3 ENSP00000415934.3
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsiteJASPARcircBase
CircNetmiRTarBasemicroRNATRANSFAC
miRecordsRepTarmiRcodeRAID2
Protein-protein Interaction
IIDPINAHINTMentha
InWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbOMIM
Drug and target
TTDGRACPDTD
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtBioGRID
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
UBD/Alpha-Helix/UMI UMI 23591816
Organism Homo sapiens
Functional Description
(View)

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 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. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3. Isoform 3 can bind to ERE and inhibit isoform 1.
 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. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3. Isoform 3 can bind to ERE and inhibit isoform 1.
Protein Sequence
(Fasta)
MTMTLHTKAS GMALLHQIQG NELEPLNRPQ LKIPLERPLG EVYLDSSKPA VYNYPEGAAY 60
EFNAAAAANA QVYGQTGLPY GPGSEAAAFG SNGLGGFPPL NSVSPSPLML LHPPPQLSPF 120
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Protein Fasta Sequence


>IUUC-Hsa-046944|UBD,UMI|Homo sapiens
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Nucleotide Sequence
(Fasta)
GAGCCTCAAA TATCTCCAAA ATCTGATACC AATCCTTTTG ATTGTGAATT ATATTCTGTA 60
GCTACCAAAG AAGGTAAGTT TTTATTTTTT CTACTCTATT AACTTTCCCT TGGACAACTG 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046944|UBD,UMI|Homo sapiens
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Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0010--Activator
KW-0877--Alternative promoter usage
KW-0025--Alternative splicing
KW-1003--Cell membrane
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0903--Direct protein sequencing
KW-0225--Disease mutation
KW-0238--DNA-binding
KW-0325--Glycoprotein
KW-0333--Golgi apparatus
KW-0446--Lipid-binding
KW-0449--Lipoprotein
KW-0472--Membrane
KW-0479--Metal-binding
KW-0488--Methylation
KW-0539--Nucleus
KW-0564--Palmitate
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-0675--Receptor
KW-1185--Reference proteome
KW-0754--Steroid-binding
KW-0804--Transcription
KW-0805--Transcription regulation
KW-0812--Transmembrane
KW-0832--Ubl conjugation
KW-0862--Zinc
KW-0863--Zinc-finger
Interpro

IPR000536--Nucl_hrmn_rcpt_lig-bd
IPR001723--Nuclear_hrmn_rcpt
IPR024178--Oest_rcpt/oest-rel_rcp
IPR001292--Oestr_rcpt
IPR024736--Oestrogen-typ_rcpt_final_C_dom
IPR001628--Znf_hrmn_rcpt
IPR013088--Znf_NHR/GATA
PROSITE

PS00031--NUCLEAR_REC_DBD_1
PS51030--NUCLEAR_REC_DBD_2
Pfam

PF12743--ESR1_C
PF00104--Hormone_recep
PF02159--Oest_recep
PF00105--zf-C4
PRINTS

PR00543--OESTROGENR
PR00398--STRDHORMONER
PR00047--STROIDFINGER
SMART

SM00430--HOLI
SM00399--ZnF_C4
Gene Ontology

GO:0005737--C:cytoplasm
GO:0005794--C:Golgi apparatus
GO:0016021--C:integral component of membrane
GO:0016020--C:membrane
GO:0000790--C:nuclear chromatin
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0005886--C:plasma membrane
GO:0035327--C:transcriptionally active chromatin
GO:0051117--F:ATPase binding
GO:0008013--F:beta-catenin binding
GO:0003682--F:chromatin binding
GO:0001046--F:core promoter sequence-specific DNA binding
GO:0019899--F:enzyme binding
GO:0030284--F:estrogen receptor activity
GO:0034056--F:estrogen response element binding
GO:0042802--F:identical protein binding
GO:0030235--F:nitric-oxide synthase regulator activity
GO:0019901--F:protein kinase binding
GO:0000978--F:RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0038052--F:RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding
GO:0005496--F:steroid binding
GO:0003707--F:steroid hormone receptor activity
GO:0003700--F:transcription factor activity, sequence-specific DNA binding
GO:0008134--F:transcription factor binding
GO:0001077--F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0008270--F:zinc ion binding
GO:0008209--P:androgen metabolic process
GO:0001547--P:antral ovarian follicle growth
GO:0071392--P:cellular response to estradiol stimulus
GO:0071391--P:cellular response to estrogen stimulus
GO:0006338--P:chromatin remodeling
GO:0002064--P:epithelial cell development
GO:0060750--P:epithelial cell proliferation involved in mammary gland duct elongation
GO:0030520--P:intracellular estrogen receptor signaling pathway
GO:0030518--P:intracellular steroid hormone receptor signaling pathway
GO:0008584--P:male gonad development
GO:0060749--P:mammary gland alveolus development
GO:0060745--P:mammary gland branching involved in pregnancy
GO:0010629--P:negative regulation of gene expression
GO:0043124--P:negative regulation of I-kappaB kinase/NF-kappaB signaling
GO:1903799--P:negative regulation of production of miRNAs involved in gene silencing by miRNA
GO:0043433--P:negative regulation of sequence-specific DNA binding transcription factor activity
GO:0000122--P:negative regulation of transcription from RNA polymerase II promoter
GO:0007200--P:phospholipase C-activating G-protein coupled receptor signaling pathway
GO:0007204--P:positive regulation of cytosolic calcium ion concentration
GO:0048146--P:positive regulation of fibroblast proliferation
GO:0045429--P:positive regulation of nitric oxide biosynthetic process
GO:0051000--P:positive regulation of nitric-oxide synthase activity
GO:0010863--P:positive regulation of phospholipase C activity
GO:0051091--P:positive regulation of sequence-specific DNA binding transcription factor activity
GO:0045944--P:positive regulation of transcription from RNA polymerase II promoter
GO:0045893--P:positive regulation of transcription, DNA-templated
GO:0060527--P:prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
GO:0060523--P:prostate epithelial cord elongation
GO:0016579--P:protein deubiquitination
GO:0071168--P:protein localization to chromatin
GO:0042981--P:regulation of apoptotic process
GO:0060687--P:regulation of branching involved in prostate gland morphogenesis
GO:0050727--P:regulation of inflammatory response
GO:0034121--P:regulation of toll-like receptor signaling pathway
GO:0006357--P:regulation of transcription from RNA polymerase II promoter
GO:0006355--P:regulation of transcription, DNA-templated
GO:0032355--P:response to estradiol
GO:0043627--P:response to estrogen
GO:0007165--P:signal transduction
GO:0006366--P:transcription from RNA polymerase II promoter
GO:0006367--P:transcription initiation from RNA polymerase II promoter
GO:0006351--P:transcription, DNA-templated
GO:0060065--P:uterus development
GO:0060068--P:vagina development
KEGG hsa:2099
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001925 Ailuropoda melanoleuca 93.10 0.00e+00 798.00
IUUC-Apl-003688 Anas platyrhynchos 79.93 0.00e+00 802.00
IUUC-Aca-005222 Anolis carolinensis 77.63 0.00e+00 870.00
IUUC-Ame-010731 Astyanax mexicanus 57.42 3.00e-137 482.00
IUUC-Bta-013112 Bos taurus 89.26 0.00e+00 937.00
IUUC-Cja-019408 Callithrix jacchus 96.97 0.00e+00 1056.00
IUUC-Cfa-020694 Canis familiaris 89.09 0.00e+00 953.00
IUUC-Cpo-021426 Cavia porcellus 85.91 0.00e+00 919.00
IUUC-Cre-022648 Chlamydomonas reinhardtii 30.23 2.80e+00 26.60
IUUC-Csa-023736 Chlorocebus sabaeus 98.36 0.00e+00 924.00
IUUC-Dre-027698 Danio rerio 56.84 1.00e-134 473.00
IUUC-Dno-029477 Dasypus novemcinctus 90.45 0.00e+00 767.00
IUUC-Dor-030572 Dipodomys ordii 89.19 0.00e+00 739.00
IUUC-Ete-032849 Echinops telfairi 71.66 0.00e+00 661.00
IUUC-Eca-033605 Equus caballus 87.39 0.00e+00 959.00
IUUC-Eeu-034683 Erinaceus europaeus 89.25 3.00e-106 378.00
IUUC-Fca-035928 Felis catus 92.17 0.00e+00 788.00
IUUC-Fal-036754 Ficedula albicollis 77.35 0.00e+00 880.00
IUUC-Gmo-038872 Gadus morhua 57.51 4.00e-112 398.00
IUUC-Gga-040988 Gallus gallus 78.78 0.00e+00 870.00
IUUC-Gac-042015 Gasterosteus aculeatus 64.46 5.00e-127 448.00
IUUC-Ggo-044749 Gorilla gorilla 98.99 0.00e+00 1076.00
IUUC-Itr-048863 Ictidomys tridecemlineatus 90.79 0.00e+00 979.00
IUUC-Loc-052414 Lepisosteus oculatus 59.21 0.00e+00 627.00
IUUC-Mcc-054781 Macaca mulatta 98.82 0.00e+00 1073.00
IUUC-Meu-056232 Macropus eugenii 85.38 0.00e+00 915.00
IUUC-Mga-059319 Meleagris gallopavo 79.29 0.00e+00 875.00
IUUC-Mmr-061636 Microcebus murinus 92.12 9.00e-174 603.00
IUUC-Mdo-062661 Monodelphis domestica 86.55 0.00e+00 930.00
IUUC-Mmu-063330 Mus musculus 88.98 0.00e+00 939.00
IUUC-Mpu-065757 Mustela putorius furo 91.79 0.00e+00 971.00
IUUC-Mlu-067712 Myotis lucifugus 90.16 0.00e+00 853.00
IUUC-Nle-069283 Nomascus leucogenys 98.32 0.00e+00 1021.00
IUUC-Opr-070391 Ochotona princeps 88.42 0.00e+00 991.00
IUUC-Ont-071369 Oreochromis niloticus 56.77 1.00e-119 423.00
IUUC-Oan-073734 Ornithorhynchus anatinus 73.18 7.00e-130 456.00
IUUC-Ocu-074292 Oryctolagus cuniculus 90.65 0.00e+00 977.00
IUUC-Oba-075103 Oryza barthii 28.21 9.00e-03 35.40
IUUC-Ogu-079042 Oryza glumaepatula 28.21 2.00e-03 37.70
IUUC-Olo-080944 Oryza longistaminata 28.21 4.00e-03 34.70
IUUC-Oni-082560 Oryza nivara 28.21 7.00e-03 35.80
IUUC-Ola-087052 Oryzias latipes 51.31 3.00e-126 445.00
IUUC-Oga-088586 Otolemur garnettii 91.81 0.00e+00 994.00
IUUC-Oar-090156 Ovis aries 91.05 0.00e+00 814.00
IUUC-Ptr-091321 Pan troglodytes 99.16 0.00e+00 1076.00
IUUC-Pan-092851 Papio anubis 98.66 0.00e+00 1071.00
IUUC-Psi-093434 Pelodiscus sinensis 78.49 0.00e+00 913.00
IUUC-Pfo-097379 Poecilia formosa 56.75 4.00e-133 468.00
IUUC-Pab-097735 Pongo abelii 98.99 0.00e+00 1074.00
IUUC-Pva-102125 Pteropus vampyrus 88.57 0.00e+00 954.00
IUUC-Rno-106121 Rattus norvegicus 88.67 0.00e+00 936.00
IUUC-Sha-107547 Sarcophilus harrisii 86.55 0.00e+00 927.00
IUUC-Sar-113650 Sorex araneus 78.74 3.00e-177 614.00
IUUC-Tgu-117175 Taeniopygia guttata 78.27 0.00e+00 883.00
IUUC-Tru-117545 Takifugu rubripes 53.96 8.00e-135 474.00
IUUC-Tsy-119586 Tarsius syrichta 79.03 0.00e+00 850.00
IUUC-Tni-120121 Tetraodon nigroviridis 54.64 8.00e-137 480.00
IUUC-Tbe-127548 Tupaia belangeri 81.08 0.00e+00 632.00
IUUC-Ttr-128374 Tursiops truncatus 86.72 0.00e+00 873.00
IUUC-Vpa-130464 Vicugna pacos 81.69 2.00e-154 538.00
IUUC-Xtr-132171 Xenopus tropicalis 69.41 0.00e+00 736.00
Created Date 25-Jun-2017

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