MAGI1 (membrane associated guanylate kinase, WW and PDZ domain containing 1)

2007-04-01  

Identity

HGNC
LOCATION
3p14.1
LOCUSID
ALIAS
AIP-3,AIP3,BAIAP1,BAP-1,BAP1,MAGI-1,MAGI-1b,Magi1d,TNRC19,WWP3
FUSION GENES

Other Information

Locus ID:

NCBI: 9223
MIM: 602625
HGNC: 946
Ensembl: ENSG00000151276

Variants:

dbSNP: 9223
ClinVar: 9223
TCGA: ENSG00000151276
COSMIC: MAGI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151276ENST00000330909Q96QZ7
ENSG00000151276ENST00000402939Q96QZ7
ENSG00000151276ENST00000460329H7C535
ENSG00000151276ENST00000463103H7C4U7
ENSG00000151276ENST00000472257H7C5T8
ENSG00000151276ENST00000479287H7C4S7
ENSG00000151276ENST00000483466Q96QZ7
ENSG00000151276ENST00000497477Q96QZ7
ENSG00000151276ENST00000611645A0A087WXD2
ENSG00000151276ENST00000621418A0A087WT53

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
259936072015Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder.82
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
163390772006MAGI-1 is required for Rap1 activation upon cell-cell contact and for enhancement of vascular endothelial cadherin-mediated cell adhesion.56
120423082002Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1.37
211233742011A systematic analysis of human papillomavirus (HPV) E6 PDZ substrates identifies MAGI-1 as a major target of HPV type 16 (HPV-16) and HPV-18 whose loss accompanies disruption of tight junctions.32
214895882011Stabilization of HPV16 E6 protein by PDZ proteins, and potential implications for genome maintenance.30
159084312005MAGI1 recruits Dll1 to cadherin-based adherens junctions and stabilizes it on the cell surface.22
255579502015Identification of risk loci for Crohn's disease phenotypes using a genome-wide association study.18
223817342012MAGI1 copy number variation in bipolar affective disorder and schizophrenia.17

Citation

Dessen P

MAGI1 (membrane associated guanylate kinase, WW and PDZ domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46855/magi1