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ESR1 Gene

protein-coding GIFtS: 74

GC06P152023

estrogen receptor 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ESR)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
DKFZp686N23123 ^²
ER ^², ³
ER-alpha ^³
ESR ^², ³, ⁵
ESRA ^²
Era ^¹, ²
NR3A1 ^¹, ², ³
OTTHUMP00000017718 ^²
OTTHUMP00000017719 ^²

Descriptions
Estradiol receptor ^³
Nuclear receptor subfamily 3 group A member 1 ^³
estrogen receptor 1 ^²
estrogen receptor alpha ^²
estrogen receptor alpha delta 4,5,6,7/633 isoform ^²
estrogen receptor alpha delta 6,7 isoform ^²

External Ids
HGNC: 3467¹
Entrez Gene: 2099²
UniProtKB: P03372³
Ensembl: ENSG00000091831⁷

Search outside databases for aliases for ESR1 gene

Previous GC identifers: GC06P151689 GC06P152159 GC06P152220

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ESR1:

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]

UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372

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

Gene Wiki entry for ESR1 (Estrogen_receptor_alpha)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ESR1 gene

Entrez Gene cytogenetic band: 6q25.1 Ensembl cytogenetic band: 6q25.1 HGNC cytogenetic band: 6q24-q27

ESR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P152023: (about GC identifiers)

Start:	152,053,324 bp from pter
End:	152,466,099 bp from pter
Size:	412,776 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000006.10 NT_025741.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372 (See protein sequence)

Recommended Name: Estrogen receptor

Size: 595 amino acids; 66216 Da

Subunit: Interacts with SLC30A9 (By similarity). Binds DNA as a homodimer. Can form a heterodimer

with ESR2. Interacts with NCOA3, NCOA5 and NCOA6 coactivators, leading to a strong increase of

transcription of target genes. Interacts with NCOA7 in a ligand-inducible manner. Interacts with

PHB2, PELP1 and UBE1C. Interacts with AKAP13. Interacts with CUEDC2. Interacts with KDM5A.

Interacts with SMARD1. Interacts with HEXIM1 and MAP1S. 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

Subcellular location: Nucleus

PDB structures from and Proteopedia :

1A52 (3D)

1AKF (3D)

1ERE (3D)

1ERR (3D)

1G50 (3D)

1GWQ (3D)

1GWR (3D)

1HCP (3D)

1HCQ (3D)

1L2I (3D)

1PCG (3D)

1QKT (3D)

1QKU (3D)

1R5K (3D)

1SJ0 (3D)

1UOM (3D)

1X7E (3D)

1X7R (3D)

1XP1 (3D)

1XP6 (3D)

1XP9 (3D)

1XPC (3D)

1XQC (3D)

1YIM (3D)

1YIN (3D)

1ZKY (3D)

2AYR (3D)

2B1V (3D)

2B1Z (3D)

2B23 (3D)

2BJ4 (3D)

2FAI (3D)

2G44 (3D)

2G5O (3D)

2I0J (3D)

2IOG (3D)

2IOK (3D)

2JF9 (3D)

2JFA (3D)

2OCF (3D)

2OUZ (3D)

2P15 (3D)

2POG (3D)

2Q6J (3D)

2Q70 (3D)

2QA6 (3D)

2QA8 (3D)

2QAB (3D)

2QE4 (3D)

2QGT (3D)

2QGW (3D)

2QH6 (3D)

2QR9 (3D)

2QSE (3D)

2QXM (3D)

2QXS (3D)

2QZO (3D)

2R6W (3D)

2R6Y (3D)

3CBM (3D)

3CBO (3D)

3CBP (3D)

3DT3 (3D)

3ERD (3D)

3ERT (3D)

Secondary accessions: Q13511 Q14276 Q9NU51 Q9UDZ7 Q9UIS7

Alternative splicing: 2 isoforms: P03372-1 P03372-2

Post-translational modifications:

Phosphorylated by cyclin A/CDK2. Phosphorylation probably enhances transcriptional activity¹

Glycosylated; contains N-acetylglucosamine, probably O-linked¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (4 alternative transcripts):

NP_000116.2 NP_001116212.1 NP_001116213.1 NP_001116214.1

ENSEMBL proteins:

ENSP00000342630 ENSP00000306312 ENSP00000206249 ENSP00000384064 ENSP00000385373

Human Recombinant Proteins

	Invitrogen human recombinant proteins for ESR1
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins and CompoZr ZFN for ESR1
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Estrogen Receptor alpha, Estrogen Receptor)
	Human Recombinant Proteins from Abnova (ESR1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005730	nucleolus	IDA	18029348
GO:0005737	cytoplasm	IDA	18029348
GO:0005886	plasma membrane	IDA	18029348
GO:0016585	chromatin remodeling complex	NAS	12351687

About this table

Antibodies for ESR1:

	Invitrogen Antibodies for ESR1
	Millipore Mono- and Polyclonal Antibodies for the study of ESR1
	Sigma-Aldrich Antibody Arrays and Antibodies for ESR1
	R&D Systems Antibodies for ESR1 (ER alpha/NR3A1)
	Cell Signaling Technology (CST) Antibodies for ESR1 (ER alpha)
	Antibodies from Abcam (Estrogen Receptor alpha, Estrogen Receptor), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ESR1)
	Novus Biologicals Antibodies for ESR1

Assays for ESR1:

	Invitrogen Assays for ESR1
	Millipore Kits and Assays for the Analysis of ESR1
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P03372

ProtoNet protein and cluster: P03372

2 Blocks protein families:

IPB001292 Oestrogen receptor signature

IPB001723 Steroid hormone receptor signature

UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372

Domain: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a

C-terminal steroid-binding domain

Similarity: Belongs to the nuclear hormone receptor family. NR3 subfamily

Similarity: Contains 1 nuclear receptor DNA-binding domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ESR1)
		Millipore RNAi Products for the Analysis of ESR1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (ESR1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_000125

Applied Biosystems Silencer® siRNAs for ESR1

Sigma-Aldrich siRNA and siRNA Panels for ESR1

Sigma-Aldrich shRNA Panels and shRNA for ESR1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000125
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000125
untagged cDNA clones in CMV expression vector (see all 4): NM_000125

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001122740

UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372

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

Genatlas biochemistry entry for ESR1:

estrogen receptor 1 alpha,steroid/thyroid hormone receptor superfamily,coactivated by PPARBP

13 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Esr1):

	adipose tissue	behavior/neurological	endocrine/exocrine gland	growth/size
hematopoietic system	homeostasis/metabolism	immune system	limbs/digits/tail	nervous system
no phenotypic analysis	reproductive system	skeleton

5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	transcription factor activity	IEA	--
GO:0005496	steroid binding	IEA	--
GO:0008270	zinc ion binding	IEA	--
GO:0030235	nitric-oxide synthase regulator activity	NAS	12389206
GO:0030284	estrogen receptor activity	NAS	3753802

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5 Sigma-Aldrich "Your Favorite Gene" Pathways for ESR1 (Your Favorite Gene powered by Ingenuity)

ERK/MAPK Signaling
Hepatic Cholestasis
Glucocorticoid Receptor Signaling
Aryl Hydrocarbon Receptor Signaling
Estrogen Receptor Signaling

GeneDecks ESR1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for ESR1

5/316 Interacting proteins for ESR1 (P03372^{1, 2} ENSP00000206249³) via UniProtKB, MINT, and/or STRING (see all 316 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NCOA1	Q15788², ENSP00000320940³	MINT-6614398 MINT-5222222 MINT-3292078 MINT-5222208 MINT-5222241 STRING (score=.999)
MTA1	Q13330², ENSP00000333633³	MINT-6613980 MINT-6614361 MINT-6614075 MINT-6613885 STRING (score=.994)
EGFR	P00533², ENSP00000275493³	MINT-6169656 MINT-6169667 MINT-6169647 STRING (score=.995)
MTA3	Q9BTC8², ENSP00000282366³	MINT-6613980 MINT-6614388 MINT-6613885 STRING (score=.99)
SMARCA4	P51532², ENSP00000350720³	MINT-6614004 MINT-6614100 MINT-6614126 STRING (score=.983)

About this table

4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	NAS	3753802
GO:0007165	signal transduction	TAS	10749889 10970861
GO:0030520	estrogen receptor signaling pathway	NAS	3753802
GO:0048386	positive regulation of retinoic acid receptor signaling pathway	IDA	15831516

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for ESR1:

Mixed Agonist/Antagonist Activator Antagonist Agonist Inhibitor Ligand

Compounds for ESR1 available from Tocris Bioscience

Compound	Action	CAS number
ICI 182,780	Estrogen receptor antagonist	[129453-61-8]
PPT	Subtype-selective ERalpha agonist	[263717-53-9]

About this table

10/26 Novoseek chemical compound relationships for ESR1 gene (see all 26 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
progesterone	95.37	4380	8633638 (6), 1947231 (6), 8745507 (5), 17535263 (5) (see all 99)
estradiol	92.70	1776	10466435 (11), 9160720 (8), 18644889 (6), 17068199 (6) (see all 99)
steroid	91.07	2074	8841503 (7), 1657132 (5), 2368630 (5), 10080679 (5) (see all 99)
arzoxifene	81.66	24	15328178 (3), 15149724 (2), 15328166 (1), 12928005 (1) (see all 16)
xbai	80.36	169	15842934 (5), 15639838 (3), 14688157 (3), 15777651 (3) (see all 99)
tamoxifen aziridine	78.13	31	8645617 (5), 1491695 (1), 8809185 (1), 9822220 (1) (see all 13)
lasofoxifene	77.37	22	15282738 (2), 15577137 (2), 16916275 (2), 15282736 (2) (see all 16)
coumestrol	76.37	44	8315272 (4), 16328721 (4), 11509969 (3), 9751507 (2) (see all 22)
progestins	74.14	52	10836199 (3), 11303216 (3), 14672731 (2), 15870863 (2) (see all 33)
steroidal	73.21	68	8809183 (2), 9216841 (2), 8411015 (2), 19394231 (2) (see all 44)

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3 PharmGKB drug compound relationships for ESR1 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
estrogens	CO GN	11919305 12006396 11910656
estrogens,conjugated	PD	20252989
tamoxifen	CO FA	15172987 15111773

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ESR1)
		Millipore RNAi Products for the Analysis of ESR1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (ESR1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_000125

Sigma-Aldrich siRNA and siRNA Panels for ESR1

Sigma-Aldrich shRNA Panels and shRNA for ESR1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000125 NM_001122740 NM_001122741 NM_001122742

REFSEQ mRNAs for ESR1 gene (4 alternative transcripts):

NM_000125.3 NM_001122740.1 NM_001122741.1 NM_001122742.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000125 NM_001122740 NM_001122741 NM_001122742

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000125
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000125
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_000125

Additional cDNA sequence:

AB307713.1 AF120105.1 AF258449.1 AF258450.1 AF258451.1 AK293019.1 AK304600.1 AK304833.1

AK309580.1 AK311064.1 AK313644.1 AY750962.1 BC128573.1 BC128574.1 BX640939.1 DQ163909.1

EF491789.1 EU921455.1 EU930361.1 EU982838.1 EU982839.1 EU982840.1 FJ011556.1 FJ011557.1

FJ011558.1 FJ011559.1 FJ011560.1 FJ147552.1 FJ147553.1 FJ147554.1 FJ147555.1 FJ147556.1

FJ147557.1 FJ147558.1 FJ169500.1 FJ169501.1 FJ169502.1 FJ169503.1 FJ169504.1 FJ668387.1

FJ712305.1 FJ712306.1 FJ712307.1 FJ716811.1 FJ716812.1 FJ716813.1 FJ716814.1 FJ716815.1

M12674.1 M69297.1 S80316.1 U47678.1 U68067.1 U68068.1 X03635.1 X73067.1

X74439.1 X86816.1 Z75126.1

7 DOTS entries:

DT.95375749 DT.114164 DT.121384518 DT.100773916 DT.91992136 DT.95375747 DT.100667313

24/108 AceView cDNA sequences (see all 108 ):

AI274727 AI540656 U68067 AA291749 AW473925 AA164586 AI673252 AI370308

AI669577 AI634735 AW514102 AA296578 CA435528 AW438839 U68068 AI565481

AI073549 Z75126 AA164585 AW951857 BX472164 BX472142 AW193584 X86816

highest scoring ESTs for ESR1:

X03635 AA164585 AA164586 AA291702 AA291749 AA296578 AA319335 AA331020 AA336802 AA336938

Unigene Cluster for ESR1:

Estrogen receptor 1

Hs.208124 [show with all ESTs]

Unigene Representative Sequence: NM_001122742

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for ESR1

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b
SP1:
SP2:					-				-		-
SP3:					-		-		-		-

About this scheme

ECgene alternative splicing isoforms for ESR1

5 Ensembl transcripts including schematic representations:

ENST00000338799 ENST00000347491 ENST00000206249 ENST00000406599 ENST00000404742

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ESR1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ESR1

¹ / ² / ³

23 probe-sets matching ESR1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1893_s_at²^{, 3}	U95-A	1	1.00	1.00	0.81	0.47	HG3125-HT3301	0.20	1.00	0.72	1
1681_at²^{, 3}	U95-A	1	1.00	1.00	0.90	1.27	X03635	1.00	0.90	0.95	1
33670_at²^{, 3}	U95-A	2	1.00	0.56	0.80	1.27	X74439	0.20	0.33	0.27	2
1298_at²^{, 3}	U95-A	1	0.62	1.00	-0.26	0.18	X86816	0.20	0.50	0.38	1
33669_at*²^{, 3}	U95-A	2	1.00	0.50	0.14	0.23	M69296	0.20	0.25	0.23	2
215552_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI073549	0.40	1.00	0.76	1
211233_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M12674	0.80	0.88	0.84	1
205225_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000125	0.60	1.00	0.82	1
211235_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF258450	0.80	0.88	0.84	1
211234_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF258449	0.80	0.88	0.84	1
211627_x_at²^{, 3}	U133-A	6	1.00	0.68	--	--	M69297	0.40	1.00	0.76	1
217190_x_at²	U133-A	1	0.73	1.00	--	--	--	--	--	--	--
217163_at²	U133-A	2	0.73	0.56	--	--	--	--	--	--	--
207672_at*²	U133-A	2	1.00	0.50	--	--	--	--	--	--	--
215552_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211233_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
205225_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211235_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211234_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211627_x_at²	U133Plus2	6	1.00	0.68	--	--	--	--	--	--	--
217190_x_at²	U133Plus2	1	0.73	1.00	--	--	--	--	--	--	--
217163_at²	U133Plus2	2	0.73	0.56	--	--	--	--	--	--	--
207672_at*²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AGCAGGTGCC

SOURCE GeneReport for Unigene cluster: Hs.208124
Expression variation in blood from EXPOLDB for ESR1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ESR1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ESR1¹	--	estrogen receptor 1	89.99(n) 90.56(a)	403640 XM_533454.2 XP_533454.2
cow (Bos taurus)	ESR1¹	--	estrogen receptor 1	89.64(n) 91.93(a)	407238 NM_001001443.1 NP_001001443.1
rat (Rattus norvegicus)	Esr1¹	--	estrogen receptor 1	85.27(n) 88.91(a)	24890 NM_012689.1 NP_036821.1
mouse (Mus musculus)	Esr1^{1, 5}	10 (12.00 cM)⁵	estrogen receptor 1 (alpha)^{1, 5}	86.05(n)¹ 89.58(a)¹	13982¹ NM_007956.3¹ NP_031982.1¹ AA023625⁵ AA420328⁵ (see all 32)
chicken (Gallus gallus)	ESR1¹	--	estrogen receptor 1	75.95(n) 79.55(a)	396099 NM_205183.1 NP_990514.1

About this table Species with no ortholog for ESR1

ENSEMBL Gene Tree for ESR1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ESR1 gene

ESR2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372

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

10/2057 NCBI SNPs in ESR1 are shown (see all 2057 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 760)

AB	SNP ID	Valid	Chr 6 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2813543^1,2	A,C,F,H,O	152466171(+)	`ATCAAG/AGTGGT`	1	--	ng3¹		22	NS NA EA EU WA	2004
	rs2747648^1,2	A,C,F,H,O	152464028(+)	`GGATAT/CTGAAT`	4	--	ut3¹ ese³		12	NA MN CSAM EA EU WA	954
	rs3798577^1,2	A,C,F,H	152462823(+)	`AGTACT/CTGTGC`	4	--	ut3¹		33	EA NS NA EU WA MN CSAM	4343
	rs9341077^1,2	C,F,H	152464821(+)	`TTGCCT/CAGCTT`	4	--	ut3¹ ese³		11	NS MN CSAM EA EU WA	1011
	rs9341080^1,2	C,F,H	152465423(+)	`AAATAT/CCCATC`	4	--	ut3¹ ese³		5	NS EU EA WA	584
	rs9341072^1,2	C,F,H	152463261(+)	`CTACCG/ACCTCC`	4	--	ut3¹ ese³		6	NS EU EA WA MN	611
	rs9341078^1,2	C,F,H	152464892(+)	`GAAGAC/ACCTAT`	4	--	ut3¹ ese³		6	NS EU EA WA MN	639
	rs867239^1,2	A,C,F	152170324(+)	`AGCAGC/GGACGA`	2	--	ut5¹ ng5¹		13	NS MN CSAM EA	1043
	rs9341075^1,2	C,F,H	152464417(+)	`AAGTGC/TCACTA`	4	--	ut3¹ ese³		15	NS EU EA WA NA MN	1269
	rs9341070^1,2	C,F,H	152461890(+)	`CACTCC/TGGCAT`	4	--	ut3¹ ese³		10	NS MN CSAM EA EU WA	964

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HapMap Linkage Disequilibrium images for ESR1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 133430

10/95 Novoseek disease relationships for ESR1 gene (see all 95 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	95.86	6389	15709176 (8), 15777504 (7), 18056179 (7), 12790328 (7) (see all 99)
breast carcinoma	90.87	762	11478269 (6), 17415810 (6), 15363297 (5), 15301464 (4) (see all 99)
carcinoma ductal	85.92	144	10690532 (2), 11758715 (2), 17522367 (2), 17940078 (2) (see all 94)
tumors	85.09	4873	15248927 (10), 11042568 (9), 15823713 (8), 7515390 (7) (see all 99)
endometrial carcinoma	81.68	325	18720455 (7), 15573770 (5), 14674143 (4), 15600187 (4) (see all 99)
endometrial cancer	81.48	244	16809439 (4), 15968319 (4), 11081689 (4), 19319135 (4) (see all 99)
osteoporosis	76.47	243	15807179 (3), 10731921 (3), 10914844 (2), 11207873 (2) (see all 99)
cancer	75.69	693	18085520 (5), 18383260 (4), 15823713 (4), 17007651 (3) (see all 99)
carcinoma lobular	74.65	23	11028811 (2), 19309393 (2), 8291222 (1), 1322387 (1) (see all 17)
carcinoma	74.13	507	15637090 (7), 17017191 (6), 10022453 (6), 17448017 (4) (see all 99)

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6 PharmGKB disease relationships for ESR1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Amenorrhea	CO GN	11919305 12006396
Bone Resorption	CO GN	11910656
Breast Neoplasms	CO	15172987
Coronary Arteriosclerosis	CO PD FA GN	11919305 12006396 15550624
Hot Flashes	CO GN	11919305 12006396
Hypercholesterolemia, Familial	CO GN	12006396

About this table

Human Gene Mutation Database: ESR1
Genetic Association Database: ESR1
Human Genome Epidemiology Navigator: ESR1 (461 documents)
Tumor Gene Database: ESR1
Breast Cancer Gene Database: ESR1

(Possibly Related Articles in Doctor's Guide)
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SGOC: DNA Methylation Profiles Reveal Hormone Receptor Interactions in Breast Cancer

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/4516 PubMed articles for ESR1 gene (see all 4516 ):

Association of estrogen receptor-alpha gene polymorphisms with coronary artery disease in patients with familial hypercholesterolemia. (PubMed id 12006396)^{1, 3, 6, 7} Lu H....Mabuchi H. (2002)
Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A. (PubMed id 3754034)^{2, 3, 4} Green S....Chambon P. (1986)
A novel 80 kDa human estrogen receptor containing a duplication of exons 6 and 7. (PubMed id 8600466)^{1, 3, 4} Pink J.J.... Jordan V.C. (1996)
[The XbaI and PvuII gene polymorphisms of the estrogen receptor alpha gene in Chinese women with breast cancer] (PubMed id 15842934)^{1, 3, 6} Lu X....Hua B. (2005)
Polymorphisms of estrogen receptor alpha in prostate cancer. (PubMed id 12891629)^{1, 3, 6} Tanaka Y....Dahiya R. (2003)
Estradiol and phorbol ester cause phosphorylation of serine 118 in the human estrogen receptor. (PubMed id 7476978)^{1, 3, 4} Joel P.B.... Lannigan D.A. (1995)
Relationship of estrogen receptor genotypes to bone mineral density and to rates of bone loss in men. (PubMed id 15070949)^{1, 3, 6} Khosla S....Brandi M.L. (2004)
Estrogen receptor genotypes and haplotypes associated with breast cancer risk. (PubMed id 15604249)^{1, 3, 6} Gold B....Offit K. (2004)
Analysis of estrogen receptor (ERalpha and ERbeta) and progesterone receptor (PR) polymorphisms in uterine leiomyomas. (PubMed id 12552233)^{1, 3, 6} Massart F....Brandi L. (2003)
Genetic polymorphisms of estrogen receptor alpha, CYP19, catechol-O-methyltransferase are associated with familial prostate carcinoma risk in a Japanese population. (PubMed id 14508827)^{1, 3, 6} Suzuki K....Yamanaka H. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2099	HGNC: 3467	AceView: ESR1	Ensembl:ENSG00000091831	euGenes: HUgn2099
ECgene: ESR1	H-InvDB: ESR1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for ESR1	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/esr1/
Wikipedia	http://en.wikipedia.org/wiki/Estrogen_receptor

Licensable Technologies for ESR1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for ESR1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ESR1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ESR1		Antibodies for ESR1
	Explore super-pooled esiRNAs		Proteins for ESR1
	Lentivirus-delivered shRNAs for ESR1		Small molecules for ESR1
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ESR1)
	Antibodies (ESR1)
	Chimera RNAi (ESR1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for ESR1 (ER alpha)

	Recombinant Proteins (Estrogen Receptor alpha, Estrogen Receptor)
	Antibodies (Estrogen Receptor alpha, Estrogen Receptor)

Search OriGene for ESR1

Tocris compounds for ESR1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ESR1

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ESR1 Gene

protein-coding GIFtS: 74

Aliases &
Descriptions
for ESR1

Summaries
for ESR1

Genomic Location
for ESR1

Proteins
for ESR1

Protein Domains/
Families
for ESR1

Gene Function
for ESR1

Pathways & Interactions
for ESR1

Drugs & Compounds
for ESR1

Transcripts
for ESR1

Expression
for ESR1

Orthologs
for ESR1

Paralogs
for ESR1

SNPs/Variants
for ESR1

Disorders & Mutations
for ESR1

Medical News
for ESR1

Publications
for ESR1

Search for ESR1

Genome Databases showing ESR1

Other Databases showing ESR1

Specialized Databases showing ESR1

Licensable Technologies
for ESR1

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for ESR1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ESR1 Gene

protein-coding GIFtS: 74

Aliases & Descriptionsfor ESR1

Summariesfor ESR1

Genomic Locationfor ESR1

Proteinsfor ESR1

Protein Domains/Familiesfor ESR1

Gene Functionfor ESR1

Pathways & Interactionsfor ESR1

Drugs & Compoundsfor ESR1

Transcriptsfor ESR1

Expression for ESR1

Orthologsfor ESR1

Paralogsfor ESR1

SNPs/Variantsfor ESR1

Disorders & Mutationsfor ESR1

Medical Newsfor ESR1

Publicationsfor ESR1

Search for ESR1

Genome Databases showing ESR1

Other Databases showing ESR1

Specialized Databases showing ESR1

Licensable Technologiesfor ESR1

Servicesfor ESR1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ESR1

Summaries
for ESR1

Genomic Location
for ESR1

Proteins
for ESR1

Protein Domains/
Families
for ESR1

Gene Function
for ESR1

Pathways & Interactions
for ESR1

Drugs & Compounds
for ESR1

Transcripts
for ESR1

Expression
for ESR1

Orthologs
for ESR1

Paralogs
for ESR1

SNPs/Variants
for ESR1

Disorders & Mutations
for ESR1

Medical News
for ESR1

Publications
for ESR1

Licensable Technologies
for ESR1

Services
for ESR1