ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

ATOX1

Full Name:

ATX1 antioxidant protein 1 homolog (yeast)

Alias:

ATX1|HAH1|MGC138453|MGC138455

Organism:

Homo sapiens (Human)

Chromosome:

5

Genetic Location:

5q32

Physical Location:

151102575-151118402 on NC_000005.8, complement

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Gene SNP Information

SNP	Abuser/Control Ratio	Cluster
rs1549920 dbSNP	0.87	22

Association Dataset

Name:		16894614
Method:		Association
Publication:		Johnson et al. Am J Med Genet B Neuropsychiatr Genet. (2006) Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism. PubMed
Summary:		Association genome scanning can identify markers for the allelic variants that contribute to vulnerability to complex disorders, including alcohol dependence. To improve the power and feasibility of this approach, we report validation of 100k microarray-based allelic frequency assessments in pooled DNA samples. We then use this approach with unrelated alcohol-dependent versus control individuals sampled from pedigrees collected by the Collaborative Study on the Genetics of Alcoholism (COGA). Allele frequency differences between alcohol-dependent and control individuals are assessed in quadruplicate at 104,268 autosomal SNPs in pooled samples. One hundred eighty-eight SNPs provide (1) the largest allele frequency differences between dependent versus control individuals; (2) t values 3 for these differences; and (3) clustering, so that 51 relatively small chromosomal regions contain at least three SNPs that satisfy criteria 1 and 2 above (Monte Carlo P = 0.00034).

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_004045.3	NP_004036.1	NC_000005.8 range: 151102575..151118402, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005829	cytosol	Cellular Component	TAS (12029094)
GO:0005375	copper ion transmembrane transporter activity	Molecular Function	IEA
GO:0032767	copper-dependent protein binding	Molecular Function	IPI (10497213)
GO:0016531	copper chaperone activity	Molecular Function	IDA (12029094)
GO:0046872	metal ion binding	Molecular Function	IEA
GO:0006878	cellular copper ion homeostasis	Biological Process	TAS (9430722)
GO:0006825	copper ion transport	Biological Process	TAS (15670166)
GO:0030001	metal ion transport	Biological Process	IEA
GO:0006811	ion transport	Biological Process	IEA
GO:0006979	response to oxidative stress	Biological Process	TAS (9430722)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: