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Aliases for MAGI1 Gene

Aliases for MAGI1 Gene

  • Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 1 2 3 5
  • BAI1-Associated Protein 1 2 3 4
  • Membrane-Associated Guanylate Kinase Inverted 1 3 4
  • Trinucleotide Repeat-Containing Gene 19 Protein 3 4
  • Atrophin-1-Interacting Protein 3 3 4
  • WW Domain-Containing Protein 3 3 4
  • BAIAP1 3 4
  • MAGI-1 3 4
  • TNRC19 3 4
  • AIP-3 3 4
  • BAP-1 3 4
  • AIP3 3 4
  • BAP1 3 4
  • WWP3 3 4
  • Membrane-Associated Guanylate Kinase, WW And PDZ Domain-Containing Protein 1 3
  • Magi1d 3

External Ids for MAGI1 Gene

Previous HGNC Symbols for MAGI1 Gene

  • BAIAP1

Previous GeneCards Identifiers for MAGI1 Gene

  • GC06M154757
  • GC06M154818

Summaries for MAGI1 Gene

Entrez Gene Summary for MAGI1 Gene

  • The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAGI1 Gene

MAGI1 (Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 1) is a Protein Coding gene. Diseases associated with MAGI1 include Sesame Syndrome. Among its related pathways are G-protein signaling_H-RAS regulation pathway and Ras signaling pathway. GO annotations related to this gene include protein C-terminus binding and alpha-actinin binding. An important paralog of this gene is MAGI2.

UniProtKB/Swiss-Prot for MAGI1 Gene

  • May play a role as scaffolding protein at cell-cell junctions. May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity).

Gene Wiki entry for MAGI1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAGI1 Gene

Genomics for MAGI1 Gene

Regulatory Elements for MAGI1 Gene

Enhancers for MAGI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G065951 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +84.4 84383 5.8 FOXA2 ATF1 ARID4B SIN3A ZNF48 YY1 GATA2 FOS SP5 ZHX2 MAGI1 MAGI1-IT1 MAGI1-AS1
GH03G066010 1.3 Ensembl ENCODE dbSUPER 11.5 +27.8 27843 1.4 PKNOX1 FOXA2 KLF17 RAD21 RARA YY1 ZEB1 ZNF366 FOS EGR2 MAGI1 ENSG00000203647 GC03M066019
GH03G066047 1.1 Ensembl ENCODE dbSUPER 12.6 -9.0 -8983 1.6 CTCF TFAP4 TEAD1 BHLHE40 ZFP64 RAD21 NR2F2 TEAD3 ELK1 NR2F6 MAGI1 SLC25A26
GH03G066053 1.5 Ensembl ENCODE dbSUPER 8.7 -14.9 -14929 1.3 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ZBTB7B YY1 GLIS2 GATA2 MAGI1 SLC25A26
GH03G065948 1.2 Ensembl ENCODE dbSUPER 10.8 +89.1 89094 3.3 CTCF JUN CHD1 REST RAD21 EP300 NR2F2 OSR2 JUND PRDM6 MAGI1-AS1 MAGI1 MAGI1-IT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAGI1 on UCSC Golden Path with GeneCards custom track

Promoters for MAGI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000304441 436 3201 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS ZNF263

Genomic Location for MAGI1 Gene

Chromosome:
3
Start:
65,330,764 bp from pter
End:
66,038,836 bp from pter
Size:
708,073 bases
Orientation:
Minus strand

Genomic View for MAGI1 Gene

Genes around MAGI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAGI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAGI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAGI1 Gene

Proteins for MAGI1 Gene

  • Protein details for MAGI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QZ7-MAGI1_HUMAN
    Recommended name:
    Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1
    Protein Accession:
    Q96QZ7
    Secondary Accessions:
    • A8K188
    • O00309
    • O43863
    • O75085
    • Q96QZ8
    • Q96QZ9

    Protein attributes for MAGI1 Gene

    Size:
    1491 amino acids
    Molecular mass:
    164581 Da
    Quaternary structure:
    • Interacts through its WW 2 domain with SYNPO and through its PDZ 5 domain with ACTN4 (PubMed:12042308). Interacts with cytoplasmic domain of BAI1 (PubMed:9647739). Interacts via its WW domains with DRPLA (PubMed:9647693). Interacts with ESAM, LRP2 and CXADR (By similarity). May interact with CTNNB1 (By similarity). Interacts through its PDZ 1 domain with NET1 (By similarity). Interacts with ASIC3 and AMOT (PubMed:15317815, PubMed:16043488). Interacts with FCHSD2 (PubMed:14627983). Interacts with IGSF5/JAM4 and through its PDZ 2 and 3 domains with NPHS1 forming a tripartite complex (By similarity) (PubMed:12773569). Interacts with DDN (PubMed:16751601). Isoform 3 (via PDZ domain) interacts with RAPGEF2 (PubMed:11168587). Interacts with DLL1 (By similarity). Interacts with KCNJ10 and possibly with KCNJ10/KCNJ16 heterodimer; this interaction may facilitate KCNJ10/KCNJ16 potassium channel expression at the basolateral membrane in kidney tubular cells.

    Three dimensional structures from OCA and Proteopedia for MAGI1 Gene

    Alternative splice isoforms for MAGI1 Gene

neXtProt entry for MAGI1 Gene

Post-translational modifications for MAGI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAGI1 Gene

Domains & Families for MAGI1 Gene

Suggested Antigen Peptide Sequences for MAGI1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MAGI1: view

No data available for UniProtKB/Swiss-Prot for MAGI1 Gene

Function for MAGI1 Gene

Molecular function for MAGI1 Gene

UniProtKB/Swiss-Prot Function:
May play a role as scaffolding protein at cell-cell junctions. May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity).

Gene Ontology (GO) - Molecular Function for MAGI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9647693
GO:0005524 ATP binding IEA --
GO:0008022 protein C-terminus binding TAS 9647739
GO:0032947 protein complex scaffold IEA --
GO:0051393 alpha-actinin binding IPI 16464232
genes like me logo Genes that share ontologies with MAGI1: view
genes like me logo Genes that share phenotypes with MAGI1: view

Animal Model Products

miRNA for MAGI1 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAGI1 Gene

Localization for MAGI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAGI1 Gene

Cell junction, tight junction. Cell membrane; Peripheral membrane protein. Note=Localizes to epithelial cells tight junctions.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAGI1 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 1

Gene Ontology (GO) - Cellular Components for MAGI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 16464232
GO:0005886 plasma membrane IEA,TAS --
GO:0005911 cell-cell junction TAS 9647739
genes like me logo Genes that share ontologies with MAGI1: view

Pathways & Interactions for MAGI1 Gene

genes like me logo Genes that share pathways with MAGI1: view

Gene Ontology (GO) - Biological Process for MAGI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly NAS 9647739
GO:0007155 cell adhesion TAS 9647739
GO:0007166 cell surface receptor signaling pathway TAS 9647739
GO:0070997 neuron death IMP 22166940
genes like me logo Genes that share ontologies with MAGI1: view

No data available for SIGNOR curated interactions for MAGI1 Gene

Drugs & Compounds for MAGI1 Gene

(1) Additional Compounds for MAGI1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAGI1: view

Transcripts for MAGI1 Gene

Unigene Clusters for MAGI1 Gene

Membrane associated guanylate kinase, WW and PDZ domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAGI1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for MAGI1 Gene

GeneLoc Exon Structure for
MAGI1
ECgene alternative splicing isoforms for
MAGI1

Expression for MAGI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAGI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAGI1 Gene

This gene is overexpressed in Pancreas (10.1), Fetal Brain (7.6), Amniocyte (6.9), and Plasma (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAGI1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MAGI1 Gene:

MAGI1

SOURCE GeneReport for Unigene cluster for MAGI1 Gene:

Hs.476636

mRNA Expression by UniProt/SwissProt for MAGI1 Gene:

Q96QZ7-MAGI1_HUMAN
Tissue specificity: Widely expressed with the exception of skeletal muscle. Isoform 1, isoform 2 and isoform 6 are highly expressed in colon, kidney, lung, liver, and pancreas. Isoform 5 is predominantly expressed in brain and heart. Isoform 3 and isoform 4 are highly expressed in pancreas and brain.

Evidence on tissue expression from TISSUES for MAGI1 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Kidney(3.5)
  • Intestine(2.7)
  • Lung(2.6)
  • Eye(2.4)
genes like me logo Genes that share expression patterns with MAGI1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAGI1 Gene

Orthologs for MAGI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAGI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAGI1 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 97 (a)
OneToMany
MAGI1 34
  • 89.04 (n)
-- 35
  • 80 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MAGI1 34 35
  • 91.89 (n)
rat
(Rattus norvegicus)
Mammalia Magi1 34
  • 90.57 (n)
mouse
(Mus musculus)
Mammalia Magi1 34 16 35
  • 89.44 (n)
oppossum
(Monodelphis domestica)
Mammalia MAGI1 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAGI1 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAGI1 34 35
  • 80.81 (n)
lizard
(Anolis carolinensis)
Reptilia MAGI1 35
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19209 34
zebrafish
(Danio rerio)
Actinopterygii magi1b 34 35
  • 72.34 (n)
magi1a 35
  • 58 (a)
OneToMany
wufj98f08 34
fruit fly
(Drosophila melanogaster)
Insecta Magi 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea magi-1 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for MAGI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MAGI1 Gene

ENSEMBL:
Gene Tree for MAGI1 (if available)
TreeFam:
Gene Tree for MAGI1 (if available)

Paralogs for MAGI1 Gene

Paralogs for MAGI1 Gene

(10) SIMAP similar genes for MAGI1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for MAGI1 Gene

genes like me logo Genes that share paralogs with MAGI1: view

Variants for MAGI1 Gene

Sequence variations from dbSNP and Humsavar for MAGI1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000000855 -- 65,941,450(+) TGGTA(C/T)TATTG intron-variant
rs1000001038 -- 65,442,425(+) TCAGA(C/T)ACTCC intron-variant
rs1000005255 -- 65,690,013(+) ATGAG(G/T)TTGAC intron-variant
rs1000008882 -- 65,831,490(+) TACAC(A/C/G)GTTGA intron-variant
rs1000013278 -- 65,611,691(+) CATAC(-/AT)GTGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAGI1 Gene

Variant ID Type Subtype PubMed ID
dgv4769n100 CNV gain 25217958
esv1335536 CNV insertion 17803354
esv2202487 CNV deletion 18987734
esv2302597 CNV deletion 18987734
esv2562385 CNV insertion 19546169
esv2661867 CNV deletion 23128226
esv2663523 CNV deletion 23128226
esv2725361 CNV deletion 23290073
esv2725364 CNV deletion 23290073
esv2725365 CNV deletion 23290073
esv2725366 CNV deletion 23290073
esv2760793 CNV loss 21179565
esv29286 CNV loss 19812545
esv3035021 CNV deletion 24192839
esv3391109 CNV insertion 20981092
esv3562002 CNV deletion 23714750
esv3568825 CNV loss 25503493
esv3575576 CNV gain 25503493
esv3596419 CNV loss 21293372
esv3596421 CNV gain 21293372
esv3596424 CNV loss 21293372
esv3596425 CNV loss 21293372
esv3596426 CNV loss 21293372
esv3596427 CNV gain 21293372
esv3596428 CNV gain 21293372
esv3596429 CNV loss 21293372
esv3596430 CNV loss 21293372
esv3596431 CNV loss 21293372
esv992084 CNV insertion 20482838
nsv1000606 CNV gain 25217958
nsv1000854 CNV loss 25217958
nsv1006381 CNV gain 25217958
nsv1011668 CNV gain 25217958
nsv1012099 CNV gain 25217958
nsv1014307 CNV loss 25217958
nsv1114388 CNV deletion 24896259
nsv1123659 CNV deletion 24896259
nsv1141433 CNV duplication 24896259
nsv1148399 CNV duplication 26484159
nsv1152480 CNV duplication 26484159
nsv3856 CNV insertion 18451855
nsv3857 CNV insertion 18451855
nsv3858 CNV deletion 18451855
nsv460696 CNV loss 19166990
nsv460697 CNV loss 19166990
nsv472140 CNV novel sequence insertion 20440878
nsv473450 CNV novel sequence insertion 20440878
nsv476874 CNV novel sequence insertion 20440878
nsv507099 OTHER sequence alteration 20534489
nsv507100 OTHER sequence alteration 20534489
nsv522932 CNV loss 19592680
nsv526223 CNV loss 19592680
nsv526343 CNV loss 19592680
nsv590546 CNV gain 21841781
nsv590547 CNV loss 21841781
nsv590548 CNV loss 21841781
nsv590549 CNV loss 21841781
nsv954875 CNV duplication 24416366

Variation tolerance for MAGI1 Gene

Residual Variation Intolerance Score: 2.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.89; 67.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAGI1 Gene

Human Gene Mutation Database (HGMD)
MAGI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAGI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAGI1 Gene

Disorders for MAGI1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MAGI1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
sesame syndrome
  • seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
- elite association - COSMIC cancer census association via MalaCards
Search MAGI1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MAGI1

Genetic Association Database (GAD)
MAGI1
Human Genome Epidemiology (HuGE) Navigator
MAGI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAGI1
genes like me logo Genes that share disorders with MAGI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAGI1 Gene

Publications for MAGI1 Gene

  1. Cloning and characterization of BAI-associated protein 1: a PDZ domain-containing protein that interacts with BAI1. (PMID: 9647739) Shiratsuchi T. … Tokino T. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 22 64
  2. JAM4, a junctional cell adhesion molecule interacting with a tight junction protein, MAGI-1. (PMID: 12773569) Hirabayashi S. … Hata Y. (Mol. Cell. Biol. 2003) 3 4 22 64
  3. MAGI-1: a widely expressed, alternatively spliced tight junction protein. (PMID: 11969287) Laura R.P. … Lasky L.A. (Exp. Cell Res. 2002) 3 4 22 64
  4. Membrane-associated guanylate kinase with inverted orientation (MAGI)-1/brain angiogenesis inhibitor 1-associated protein (BAP1) as a scaffolding molecule for Rap small G protein GDP/GTP exchange protein at tight junctions. (PMID: 11168587) Mino A. … Takai Y. (Genes Cells 2000) 3 4 22 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for MAGI1 Gene

  • Addgene plasmids for MAGI1

Sources for MAGI1 Gene

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