ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

ATP6V1E1

Full Name:

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1

Alias:

ATP6E|ATP6E2|ATP6V1E|P31|Vma4

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

22pter-q11.2|22q11.1

Physical Location:

16454901-16491587 on NC_000022.9, complement

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Gene Information

Original ID1:		X76228
Fold Change:		1.5, 1.8
Note:		Differential expression on the oligonucleotide array (two fold changes are from two case groups)

Dataset Information

Name:		11141048
Method:		Microarray
Tissue:		Frontal cortex
Phenotype:		Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:		Lewohl et al. Alcohol Clin Exp Res. (2000) Gene expression in human alcoholism: microarray analysis of frontal cortex. PubMed
Summary:		RNA was extracted from postmortem samples of superior frontal cortex of alcoholics and nonalcoholics. Relative levels of RNA were determined by array techniques. This study used both cDNA and oligonucleotide microarrays to provide coverage of a large number of genes and to allow cross-validation for those genes represented on both types of arrays. Expression levels were determined for over 4000 genes and 163 of these were found to differ by 40% or more between alcoholics and nonalcoholics.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D22S420

2.04

0.0011

16239281

D22S1638

2.05

0.0011

17375064

Region:		16239281-17375064
Phenotype:		TOLMX (tolerance/maximum drinking)
Name:		17067344
Method:		Linkage
Publication:		Kuo et al. Alcohol Clin Exp Res. (2006) Identification of susceptibility loci for alcohol-related traits in the Irish Affected Sib Pair Study of Alcohol Dependence. PubMed
Summary:		A 4-cM dense whole-genome linkage study was conducted in the Irish Affected Sib Pair Study of Alcohol Dependence. Probands, affected siblings, and parents were evaluated by structured interview. Variance component linkage analysis was applied to data from 485 families for 5 measures: initial sensitivity and tolerance (based on scales from the self-report of the effects of ethanol; maximum drinks within 24 hours, an empirically derived factor score based on withdrawal symptoms, and age at onset of alcohol dependence.

Gene Refseq Sequence Annotation

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005886	plasma membrane	Cellular Component	NR
GO:0016469	proton-transporting two-sector ATPase complex	Cellular Component	TAS (8250920)
GO:0005515	protein binding	Molecular Function	IPI (14667819)
GO:0016787	hydrolase activity	Molecular Function	IEA
GO:0046961	hydrogen ion transporting ATPase activity, rotational mechanism	Molecular Function	IEA
GO:0006811	ion transport	Biological Process	IEA
GO:0015992	proton transport	Biological Process	TAS (8250920)