ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

ESR1

Full Name:

estrogen receptor 1

Alias:

DKFZp686N23123|ER|ESR|ESRA|Era|NR3A1

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

6q25.1

Physical Location:

152170378-152466098 on NC_000006.10

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Dataset Information

Name:		12774316
Method:		Microarray
Tissue:		Temporal cortex
Phenotype:		Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:		Sokolov et al. J Neurosci Res. (2003) Transcription profiling reveals mitochondrial, ubiquitin and signaling systems abnormalities in postmortem brains from subjects with a history of alcohol abuse or dependence. PubMed
Summary:		To identify candidate mechanisms for alcohol abuse, the expression of 12,626 genes was measured in postmortem temporal cortex from 11 subjects with a history of alcohol abuse or dependence, with or without other psychiatric diagnoses and compared pairwise with the expression in 11 nonalcoholic subjects matched for the other psychiatric diagnoses and demographics. Genes were defined to have altered expression in alcohol abuse if: 1) the gene showed decreased expression in at least 10 of 11 subjects with alcohol abuse, or showed increased expression in at least 10 of 11 subjects with this diagnosis compared to matched non-abusers (P<0.007, X2test); or 2) the difference in the mean abuser/non-abuser ratio for the gene from value of 1.0 was significant at P<0.05 (one sample t-test). In subjects with a history of alcohol abuse or dependence, 163 genes were changed significantly.

Gene Information

Original ID1:

ESR1

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Gene Information

Original ID	No. of Publications	Phenotype
ESR1	1	Alcoholism

HuGE Navigator Dataset

Name:		HuGE Navigator
Method:		Literature data mining
Publication:		Wei Yu, Melinda Clyne, Anja Wulf, Ajay Yesupriya, Marta Gwinn and Muin J. Khoury. Phenopedia. HuGE Navigator. Available at: http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do. Accessed [Jun. 10, 2008].
Summary:		HuGE Navigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. We extracted genes associated to 9 Alcohol-related diseases (Alcohol Amnestic Disorder; Alcohol Withdrawal Delirium; Alcohol Withdrawal Seizures; Alcohol-Induced Disorders; Alcohol-Induced Disorders, Nervous System; Alcohol-Related Disorders; Alcoholic Intoxication; Alcoholic Neuropathy; Alcoholism) from HuGE Navigator Phenopedia.

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_000125.3	NP_000116.2	NC_000006.10 range: 152170378..152466098

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005634	nucleus	Cellular Component	IEA
GO:0016585	chromatin remodeling complex	Cellular Component	NAS (12351687)
GO:0016020	membrane	Cellular Component	NAS (11960618)
GO:0003677	DNA binding	Molecular Function	IEA
GO:0046872	metal ion binding	Molecular Function	IEA
GO:0043565	sequence-specific DNA binding	Molecular Function	IEA
GO:0030284	estrogen receptor activity	Molecular Function	NAS (3753802)
GO:0030235	nitric-oxide synthase regulator activity	Molecular Function	NAS (12389206)
GO:0008270	zinc ion binding	Molecular Function	IEA
GO:0047485	protein N-terminus binding	Molecular Function	IPI (12917342)
GO:0005496	steroid binding	Molecular Function	IEA
GO:0004872	receptor activity	Molecular Function	IEA
GO:0003707	steroid hormone receptor activity	Molecular Function	IEA
GO:0003700	transcription factor activity	Molecular Function	IEA
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	NAS (3753802)
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	IEA
GO:0006350	transcription	Biological Process	IEA
GO:0030520	estrogen receptor signaling pathway	Biological Process	NAS (3753802)
GO:0007165	signal transduction	Biological Process	TAS (10749889\|10970861)