ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

MAGI1

Full Name:

membrane associated guanylate kinase, WW and PDZ domain containing 1

Alias:

AIP3|BAIAP1|BAP1|MAGI-1|TNRC19|WWP3

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

3p14.1

Physical Location:

65314945-65999548 on NC_000003.10, complement

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Gene SNP Information

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

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005886	plasma membrane	Cellular Component	TAS (9647739)
GO:0005923	tight junction	Cellular Component	IEA
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0016301	kinase activity	Molecular Function	IEA
GO:0008022	protein C-terminus binding	Molecular Function	TAS (9647739)
GO:0016740	transferase activity	Molecular Function	IEA
GO:0005524	ATP binding	Molecular Function	IEA
GO:0007166	cell surface receptor linked signal transduction	Biological Process	TAS (9647739)
GO:0006461	protein complex assembly	Biological Process	NAS (9647739)
GO:0007155	cell adhesion	Biological Process	TAS (9647739)