Annotation Detail for ESR1

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Basic Information Top

Gene Symbol:	ESR1 ( DKFZp686N23123,ER,ESR,ESRA,Era,NR3A1 )
Gene Full Name:	estrogen receptor 1
Band:	6q25.1-q25.2
Quick Links	Entrez ID:2099; OMIM: 133430; Uniprot ID:ESR1_HUMAN; ENSEMBL ID: ENSG00000091831; HGNC ID: 3467
Relate to Another Database:	SFARIGene; denovo-db

General

Expression

Regulation

Pathways, Diseases and Drugs

PTM

TF binding site

miRNA targets

Cis-NATs

Post Translation Modification

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PTM Sites from Uniprot:9 results
Experimental PTM Sites from dbPTM:14 results
Predicted PTM Sites by profile HMM from dbPTM:16 results

Location(AA)	Modification
7	Phosphothreonine.
10	O-linked (GlcNAc) (By similarity).
10	Phosphoserine.
104	Phosphoserine; by CDK2.
106	Phosphoserine; by CDK2.
118	Phosphoserine.
167	Phosphoserine; by CK2.
260	Asymmetric dimethylarginine; by PRMT1.
537	Phosphotyrosine; by Tyr-kinases.

Location(AA)	Modifications	Resource
102	Phosphoserine (GSK-3beta)	Phospho.ELM 6.0
104	Phosphoserine (by CDK2).	Swiss-Prot 53.0
104	Phosphoserine (GSK-3beta;CD)	Phospho.ELM 6.0
106	Phosphoserine (by CDK2).	Swiss-Prot 53.0
106	Phosphoserine (GSK-3beta;CD)	Phospho.ELM 6.0
118	Phosphoserine.	Swiss-Prot 53.0
118	Phosphoserine (MAPKAPK2;GSK)	Phospho.ELM 6.0
167	Phosphoserine (CK2
167	Phosphoserine (by CK2).	Swiss-Prot 53.0
236	Phosphoserine (PKA
305	Phosphoserine (PAK1)	Phospho.ELM 6.0
311	Phosphothreonine (MAPK14;MAPK
537	Phosphotyrosine (Lck;Src)	Phospho.ELM 6.0
537	Phosphotyrosine (by Tyr-kinases).	Swiss-Prot 53.0

Location(AA)	Modification	Resource
10	O-linked	HMM predict
52	Phosphotyrosine(Abl)	HMM predict
73	Phosphotyrosine(Abl)	HMM predict
84	O-linked	HMM predict
104	Phosphoserine(CDK)	HMM predict
106	Phosphoserine(CDK)	HMM predict
106	Phosphoserine(CDC2)	HMM predict
137	Phosphoserine(CK1)	HMM predict
139	Phosphotyrosine(INSR)	HMM predict
167	Phosphoserine(PKB)	HMM predict
205	S-palmitoyl	HMM predict
219	Phosphotyrosine(INSR)	HMM predict
219	Phosphotyrosine(Syk)	HMM predict
236	Phosphoserine(PKB)	HMM predict
338	Phosphoserine(CAMK2)	HMM predict
574	O-linked	HMM predict

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_000125
Location:chr6 152170378-152466098
strand:+

Upstream the gene:5 results
Downstream the gene:5 results
Inside the gene:25 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
FOXA1	MCF7	GSE15244	152166140	152167137	997	3740
FOXA1	MCF7	GSE15244	152169835	152170816	981	53
RARA	MCF7	GSE15244	152166140	152167104	964	3757
RARA	MCF7	GSE15244	152169596	152170404	808	379
hScc1	Bcell	GSE12603	152168320	152168588	268	1925

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CBP	T0-glioblastoma	GSE21026	152473976	152474455	479	8117
CTCF	G2	GSE9613	152473752	152474163	411	7859
P300	T30-glioblastoma	GSE21026	152473911	152474550	639	8132
RARA	MCF7	GSE15244	152473530	152475012	1482	8173
TFAP2C	MCF7	GSE21234	152473672	152474426	754	7951

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length
CTCF	G2	GSE9613	152170858	152171364	506
CTCF	G2	GSE9613	152415455	152415643	188
FOXA1	MCF7	GSE15244	152453955	152455382	1427
Fos	K562	GSE19551	152457858	152458369	511
FoxA1	MCF7	MACSdata	152264059	152264296	237
H3K27me3	colorectal	cancer	152171398	152171962	564
NRSF	Jurkat	GSE13047	152209645	152210267	622
NRSF	Jurkat	SISSRdata	152209805	152210215	410
NRSF	mAb	Jurkat	152207789	152208078	289
NRSF	mAb	Jurkat	152208447	152210165	1718
NRSF	mAb	Jurkat	152211370	152212166	796
NRSF-mono	Jurkat	QuESTdata	152209644	152210252	608
NRSF-poly	Jurkat	QuESTdata	152209786	152210260	474
Nanog	ES	GSE20650	152429262	152429704	442
P300	T30-glioblastoma	GSE21026	152457528	152458453	925
PHF8	Hs68plusFBS	GSE20725	152417044	152417783	739
RARA	MCF7	GSE15244	152453955	152454875	920
RUNX	Jurkat	GSE17954	152325181	152325441	260
TAF	k562	GSE8489	152427331	152428034	703
TFAP2C	MCF7	GSE21234	152169848	152171125	1277
TFAP2C	MCF7	GSE21234	152263602	152264520	918
TFAP2C	MCF7	GSE21234	152454589	152455366	777
VDR	GM10855-stim	GSE22484	152184236	152186124	1888
hScc1	Bcell	GSE12603	152414300	152414433	133
p63	keratinocytes	GSE17611	152279312	152280252	940

Validated miRNA targets

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miR Walk:133 results
Tarbase V5.0:1 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-let-7a	hsa-let-7a-1	9	20600201
hsa-let-7a	hsa-let-7a-2	11	20600201
hsa-let-7a	hsa-let-7a-3	22	20600201
hsa-let-7a	hsa-let-7a-1	9	19528081
hsa-let-7a	hsa-let-7a-2	11	19528081
hsa-let-7a	hsa-let-7a-3	22	19528081
hsa-let-7a*	hsa-let-7a-1	9	19528081
hsa-let-7a*	hsa-let-7a-3	22	19528081
hsa-let-7b	hsa-let-7b	22	19528081
hsa-let-7b*	hsa-let-7b	22	19528081
hsa-let-7c	hsa-let-7c	21	19528081
hsa-let-7c*	hsa-let-7c	21	19528081
hsa-let-7d	hsa-let-7d	9	20600201
hsa-let-7d	hsa-let-7d	9	19528081
hsa-let-7d*	hsa-let-7d	9	20600201
hsa-let-7d*	hsa-let-7d	9	19528081
hsa-let-7e	hsa-let-7e	19	19528081
hsa-let-7e*	hsa-let-7e	19	19528081
hsa-let-7f	hsa-let-7f-1	9	19528081
hsa-let-7f	hsa-let-7f-2	X	19528081
hsa-let-7f-1*	hsa-let-7f-1	9	19528081
hsa-let-7f-2*	hsa-let-7f-2	X	19528081
hsa-let-7g	hsa-let-7g	3	19528081
hsa-let-7g*	hsa-let-7g	3	19528081
hsa-let-7i	hsa-let-7i	12	19528081
hsa-let-7i*	hsa-let-7i	12	19528081
hsa-miR-100	hsa-mir-100	11	20078964
hsa-miR-100*	hsa-mir-100	11	20078964
hsa-miR-107	hsa-mir-107	10	20348243
hsa-miR-122	hsa-mir-122	18	20600201
hsa-miR-122*	hsa-mir-122	18	20600201
hsa-miR-125b	hsa-mir-125b-1	11	20978686
hsa-miR-125b	hsa-mir-125b-2	21	20978686
hsa-miR-145	hsa-mir-145	5	19730444
hsa-miR-145*	hsa-mir-145	5	19730444
hsa-miR-17	hsa-mir-17	13	20080637
hsa-miR-17	hsa-mir-17	13	19706389
hsa-miR-17*	hsa-mir-17	13	20080637
hsa-miR-17*	hsa-mir-17	13	19706389
hsa-miR-181a	hsa-mir-181a-2	9	19684618
hsa-miR-181a	hsa-mir-181a-1	1	19684618
hsa-miR-181b	hsa-mir-181b-1	1	20347265
hsa-miR-181b	hsa-mir-181b-2	9	20347265
hsa-miR-181b	hsa-mir-181b-1	1	19684618
hsa-miR-181b	hsa-mir-181b-2	9	19684618
hsa-miR-18a	hsa-mir-18a	13	20080637
hsa-miR-18a	hsa-mir-18a	13	19706389
hsa-miR-18a	hsa-mir-18a	13	19027010
hsa-miR-18a	hsa-mir-18a	13	19684618
hsa-miR-18a*	hsa-mir-18a	13	20080637
hsa-miR-18a*	hsa-mir-18a	13	19706389
hsa-miR-18a*	hsa-mir-18a	13	19027010
hsa-miR-18a*	hsa-mir-18a	13	19684618
hsa-miR-18b	hsa-mir-18b	0	19684618
hsa-miR-18b*	hsa-mir-18b	0	19684618
hsa-miR-193b	hsa-mir-193b	16	19684618
hsa-miR-193b*	hsa-mir-193b	16	19684618
hsa-miR-196b	hsa-mir-196b	7	18096665
hsa-miR-198	hsa-mir-198	0	20347265
hsa-miR-19a	hsa-mir-19a	13	20080637
hsa-miR-19a*	hsa-mir-19a	13	20080637
hsa-miR-19b	hsa-mir-19b-1	13	19706389
hsa-miR-19b	hsa-mir-19b-2	X	19706389
hsa-miR-206	hsa-mir-206	6	20388878
hsa-miR-206	hsa-mir-206	6	20347265
hsa-miR-206	hsa-mir-206	6	18593897
hsa-miR-206	hsa-mir-206	6	17312270
hsa-miR-206	hsa-mir-206	6	19684618
hsa-miR-20b	hsa-mir-20b	X	19706389
hsa-miR-20b*	hsa-mir-20b	X	19706389
hsa-miR-21	hsa-mir-21	17	19528081
hsa-miR-21*	hsa-mir-21	17	19528081
hsa-miR-22	hsa-mir-22	17	20600201
hsa-miR-22	hsa-mir-22	17	20180843
hsa-miR-22	hsa-mir-22	17	19414598
hsa-miR-22	hsa-mir-22	17	18347134
hsa-miR-22	hsa-mir-22	17	18347104
hsa-miR-22*	hsa-mir-22	17	20600201
hsa-miR-22*	hsa-mir-22	17	20180843
hsa-miR-22*	hsa-mir-22	17	19414598
hsa-miR-22*	hsa-mir-22	17	18347134
hsa-miR-22*	hsa-mir-22	17	18347104
hsa-miR-221	hsa-mir-221	X	21057537
hsa-miR-221	hsa-mir-221	X	20388878
hsa-miR-221	hsa-mir-221	X	18790736
hsa-miR-221*	hsa-mir-221	X	21057537
hsa-miR-221*	hsa-mir-221	X	20388878
hsa-miR-221*	hsa-mir-221	X	18790736
hsa-miR-222	hsa-mir-222	X	21057537
hsa-miR-222	hsa-mir-222	X	20388878
hsa-miR-222	hsa-mir-222	X	18790736
hsa-miR-222*	hsa-mir-222	X	21057537
hsa-miR-222*	hsa-mir-222	X	20388878
hsa-miR-222*	hsa-mir-222	X	18790736
hsa-miR-24	hsa-mir-24-1	9	20347265
hsa-miR-24	hsa-mir-24-2	19	20347265
hsa-miR-24-1*	hsa-mir-24-1	9	20347265
hsa-miR-24-2*	hsa-mir-24-2	19	20347265
hsa-miR-26b	hsa-mir-26b	2	20347265
hsa-miR-26b*	hsa-mir-26b	2	20347265
hsa-miR-27a	hsa-mir-27a	19	20382698
hsa-miR-27a*	hsa-mir-27a	19	20382698
hsa-miR-29b	hsa-mir-29b-1	7	19706389
hsa-miR-29b	hsa-mir-29b-2	1	19706389
hsa-miR-29b	hsa-mir-29b-1	7	19211935
hsa-miR-29b	hsa-mir-29b-2	1	19211935
hsa-miR-29b-1*	hsa-mir-29b-1	7	19211935
hsa-miR-302c	hsa-mir-302c	4	19684618
hsa-miR-302c*	hsa-mir-302c	4	19684618
hsa-miR-30b	hsa-mir-30b	8	20732949
hsa-miR-30b	hsa-mir-30b	8	20347265
hsa-miR-30b*	hsa-mir-30b	8	20732949
hsa-miR-30b*	hsa-mir-30b	8	20347265
hsa-miR-30d	hsa-mir-30d	8	20600201
hsa-miR-30d*	hsa-mir-30d	8	20600201
hsa-miR-30e	hsa-mir-30e	1	20347265
hsa-miR-30e*	hsa-mir-30e	1	20347265
hsa-miR-375	hsa-mir-375	2	20978187
hsa-miR-378	hsa-mir-378	5	20078964
hsa-miR-378*	hsa-mir-378	5	20078964
hsa-miR-424	hsa-mir-424	X	20348243
hsa-miR-424*	hsa-mir-424	X	20348243
hsa-miR-453	hsa-mir-453	14	19028706
hsa-miR-570	hsa-mir-570	3	20348243
hsa-miR-618	hsa-mir-618	12	20348243
hsa-miR-760	hsa-mir-760	1	20348243
hsa-miR-92a	hsa-mir-92a-1	13	20347265
hsa-miR-92a	hsa-mir-92a-2	X	20347265
hsa-miR-92a	hsa-mir-92a-1	13	19706389
hsa-miR-92a	hsa-mir-92a-2	X	19706389
hsa-miR-92a-1*	hsa-mir-92a-1	13	20347265
hsa-miR-92a-2*	hsa-mir-92a-2	X	20347265
hsa-miR-98	hsa-mir-98	X	19528081

ID in Tarbase	Data Type	Support Type	miRNA	Gene	Direct Support	Publication
525	mRNA cleavage	TRUE	miR-206	ESR1	Luciferase assay - mutant MRE	17312270
Ensembl	Protein Type	Differentially expressed in	Pathology or Event	Mis Regulation	Gene Expression	Tumour Involvement
ENSG00000091831		mesenchymal-epithelial transition (MET)	primary ovarian cancer	down regulated	muscle cell	"malignant tumour, benign tumour, carcinoma, sarcoma"

Cis-Nats regulation

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Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Annotation Detail for ESR1

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics