Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

MAGI1

contributors: mct - updated : 21-01-2011

HGNC name	membrane associated guanylate kinase, WW and PDZ domain containing 1
HGNC id	946

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	684.60 kb     23 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015520 19 splicing 7235 NP_056335 140.3 1287 - 2005 16019084 MAG-1B alpha/beta or variant 1/isoform a NM_004742 23 splicing 6178 NP_004733 136.79 1256 - 2005 16019084 also called MAG-1A or variant 2/isoform b NM_001033057 23 splicing 7062 NP_001028229 161.5 1462 - 2005 16019084 also called MAG-1C beta or variant 3/isoform c

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Endocrine pancreas         Hearing/Equilibrium ear inner cochlea     Homo sapiens Nervous brain       predominantly Homo sapiens Urinary kidney nephron renal capsule glomerulus   Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory glomerular epithelium   highly Muscular striatum cardiac     Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium stereocilia Homo sapiens not specific epithelial cell Urinary podocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal guanylate-kinase GUK domain
	two WW (phosphoserine- or phosphothreonine binding) domains, first WW domain responsible for binding to AMOTL2
	five PDZ domains (PSD95/disc large/ZO-1)

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to C.elegans K01A6.1
	homolog to drosophila Magi
	ortholog to murine Baiap1

intraspecies

paralog to synaptic scaffolding molecule,post synaptic density

Homologene

FAMILY

MAGUK (membrane-associated guanylase kinase homolog) family

CATEGORY

adhesion , regulatory

SUBCELLULAR LOCALIZATION	plasma membrane,junction,tight
text	colocalizing with TJP1

basic FUNCTION	required for Rap1 activation upon cell-cell contact and for enhancement of vascular endothelial cadherin-mediated cell adhesion
	MAGI1 cleavage appears to be an important step in the disassembly of cell-cell contacts during apoptosis
	may play a role as scaffolding protein at cell-cell junctions
	has the ability to replace harmonin PDZ2 binding at CDH23 C terminus
	role in the tip-link complex, where it could provide a sturdy connection with the cytoskeleton and with other components of the mechanoelectrical transduction complex
	scaffolding protein that allows formation of complexes between certain transmembrane proteins, actin-binding proteins, and other regulatory proteins
	plays a role in regulation of surface expression of KCNMA1 channels in the kidney and possibly in other tissues
	scaffolding protein implicated in the stabilization of adherens junctions
	tumor-suppressor protein induced by PTGS2 inhibitors in colorectal cancer cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	BAI1, cytoplasmic protein
	NET1 (ligand for the first PDZ domain of BAIAP1)
	ZCCHC14
	interacting with IGSF5
	binds via its PDZ4 domain to a C-terminal PDZ-binding site on CDH23
	interacting with SDK1, interaction mediated through a direct interaction between the C-terminus of SDK1 and specific PDZ domains of MAGI1
	substrate of PTPRZ1, with GIT1, and GTPase-activating protein for Rho GTPase (ARHGAP35)
	MAGI1, -2, and -3 all contain WW domains and were confirmed as PRRG4-binding proteins

cell & other

REGULATION

Other

efficiently cleaved into 97 kDa and 68 kDa fragments by caspases-3 and -7 at physiological concentrations

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia (Kuang 2008)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS