Gene table of ESR1 : estrogen receptor 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ESR1	OMIM link	Number of associated genes	genes
615363	ESTROGEN RESISTANCE	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	ESR1, CCDC170
608446	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	link to OMIM	14	ACE, LRP8, F7, OLR1, GCLC, ESR1, GCLM, LGALS2, MIAT, PSMA6, ITGB3, LTA, F13A1, TNFSF4
114480	BREAST CANCER	OMIM	link to OMIM	27	RB1CC1, ESR1, NBN, PALB2, SLC22A18, BRIP1, BCPR, CASP8, FAM175A, TSG101, CHEK2, BARD1, TP53, AKT1, BRCA1, RAD51, PHB, PPM1D, NQO2, ATM, PIK3CA, BRCA2, CDH1, XRCC3, HMMR, KRAS, RAD54L
157300	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1	OMIM	link to OMIM	3	EDNRA, ESR1, TNF

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Annotation of the gene ESR1

Associated genes in ENSEMBL

ENSG00000091831

Associated proteins - SwissProt Accession ID

P03372

Associated PDB IDs

Cytogenetic Band

6q25.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Proteoglycans in cancer	hsa05205	5.02
Endocrine and other factor-regulated calcium reabsorption	hsa04961	7.12
Thyroid hormone signaling pathway	hsa04919	5.82
Prolactin signaling pathway	hsa04917	6.6
Estrogen signaling pathway	hsa04915	6.11

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Nuclear Receptor transcription pathway	R-HSA-383280	7.31
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
Nuclear signaling by ERBB4	R-HSA-1251985	7.7
Signaling by ERBB4	R-HSA-1236394	4.7
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
nucleic acid binding	GO:0003676	1.44
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
enzyme binding	GO:0019899	2.27
molecular transducer activity	GO:0060089	2.32
transcription factor activity, direct ligand regulated sequence-specific DNA binding	GO:0098531	5.87
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
DNA binding	GO:0003677	1.92
G-protein coupled receptor binding	GO:0001664	4.18
estrogen receptor activity	GO:0030284	8.13
heterocyclic compound binding	GO:1901363	1.06
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	GO:0004879	5.87
hormone binding	GO:0042562	5.53
sequence-specific DNA binding	GO:0043565	2.79
type 1 metabotropic glutamate receptor binding	GO:0031798	9.05
molecular function regulator	GO:0098772	2.51
transition metal ion binding	GO:0046914	2.48
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor binding	GO:0008134	3.46
phosphatidylinositol 3-kinase binding	GO:0043548	6.41
ion binding	GO:0043167	1.36
identical protein binding	GO:0042802	2.63
receptor activity	GO:0004872	2.32
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
cation binding	GO:0043169	1.4
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
ATPase binding	GO:0051117	5.41
enzyme regulator activity	GO:0030234	2.85
nitric-oxide synthase regulator activity	GO:0030235	7.79
regulatory region nucleic acid binding	GO:0001067	3.03
G-protein coupled glutamate receptor binding	GO:0035256	7.95
beta-catenin binding	GO:0008013	5.3
lipid binding	GO:0008289	3.26
RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding	GO:0038052	9.05
protein complex binding	GO:0032403	3.09
sequence-specific double-stranded DNA binding	GO:1990837	3.2
core promoter proximal region DNA binding	GO:0001159	3.82
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
steroid binding	GO:0005496	5.24
glutamate receptor binding	GO:0035254	6.13
phosphatidylinositol 3-kinase regulatory subunit binding	GO:0036312	7.44
estrogen response element binding	GO:0034056	8.35
transcription cofactor binding	GO:0001221	6.52
transcription coactivator binding	GO:0001223	7.34
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
nucleic acid binding transcription factor activity	GO:0001071	2.65
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
steroid hormone receptor activity	GO:0003707	5.66
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
receptor binding	GO:0005102	2.43
chromatin binding	GO:0003682	3.64
zinc ion binding	GO:0008270	2.66