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

Identity

Alias_namesBAIAP1
BAI1-associated protein 1
Alias_symbol (synonym)BAP1
MAGI-1
TNRC19
AIP3
WWP3
Other aliasAIP-3
BAP-1
Magi1d
HGNC (Hugo) MAGI1
LocusID (NCBI) 9223
Atlas_Id 46855
Location 3p14.1  [Link to chromosome band 3p14]
Location_base_pair Starts at 65354231 and ends at 66038834 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DCN (12q21.33) / MAGI1 (3p14.1)GAK (4p16.3) / MAGI1 (3p14.1)GIT1 (17q11.2) / MAGI1 (3p14.1)
KIAA0141 (5q31.3) / MAGI1 (3p14.1)LINC00483 (17q21.33) / MAGI1 (3p14.1)LRRC27 (10q26.3) / MAGI1 (3p14.1)
MAGI1 (3p14.1) / DPH3 (3p25.1)MAGI1 (3p14.1) / FOXO1 (13q14.11)MAGI1 (3p14.1) / JUN (1p32.1)
MAGI1 (3p14.1) / MAGI1 (3p14.1)MAGI1 (3p14.1) / SPRY4 (5q31.3)MAGI1 (3p14.1) / TBC1D30 (12q14.3)
MLEC (12q24.31) / MAGI1 (3p14.1)NCOA1 (2p23.3) / MAGI1 (3p14.1)NME2 (17q21.33) / MAGI1 (3p14.1)
SMR3B (4q13.3) / MAGI1 (3p14.1)SMYD2 (1q32.3) / MAGI1 (3p14.1)GAK 4p16.3 / MAGI1 3p14.1
MAGI1 3p14.1 / DPH3 3p25.1MAGI1 3p14.1 / TBC1D30 12q14.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MAGI1   946
Cards
Entrez_Gene (NCBI)MAGI1  9223  membrane associated guanylate kinase, WW and PDZ domain containing 1
AliasesAIP-3; AIP3; BAIAP1; BAP-1; 
BAP1; MAGI-1; Magi1d; TNRC19; WWP3
GeneCards (Weizmann)MAGI1
Ensembl hg19 (Hinxton)ENSG00000151276 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151276 [Gene_View]  chr3:65354231-66038834 [Contig_View]  MAGI1 [Vega]
ICGC DataPortalENSG00000151276
TCGA cBioPortalMAGI1
AceView (NCBI)MAGI1
Genatlas (Paris)MAGI1
WikiGenes9223
SOURCE (Princeton)MAGI1
Genetics Home Reference (NIH)MAGI1
Genomic and cartography
GoldenPath hg38 (UCSC)MAGI1  -     chr3:65354231-66038834 -  3p14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAGI1  -     3p14.1   [Description]    (hg19-Feb_2009)
EnsemblMAGI1 - 3p14.1 [CytoView hg19]  MAGI1 - 3p14.1 [CytoView hg38]
Mapping of homologs : NCBIMAGI1 [Mapview hg19]  MAGI1 [Mapview hg38]
OMIM602625   
Gene and transcription
Genbank (Entrez)AB010894 AF088016 AF401654 AF401655 AF401656
RefSeq transcript (Entrez)NM_001033057 NM_004742 NM_015520
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAGI1
Cluster EST : UnigeneHs.476636 [ NCBI ]
CGAP (NCI)Hs.476636
Alternative Splicing GalleryENSG00000151276
Gene ExpressionMAGI1 [ NCBI-GEO ]   MAGI1 [ EBI - ARRAY_EXPRESS ]   MAGI1 [ SEEK ]   MAGI1 [ MEM ]
Gene Expression Viewer (FireBrowse)MAGI1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9223
GTEX Portal (Tissue expression)MAGI1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96QZ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96QZ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96QZ7
Splice isoforms : SwissVarQ96QZ7
PhosPhoSitePlusQ96QZ7
Domaine pattern : Prosite (Expaxy)GUANYLATE_KINASE_1 (PS00856)    GUANYLATE_KINASE_2 (PS50052)    PDZ (PS50106)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)GK/Ca_channel_bsu    Guanylate_kin-like_dom    Guanylate_kinase_CS    MAGI1    P-loop_NTPase    PDZ    WW_dom   
Domain families : Pfam (Sanger)Guanylate_kin (PF00625)    PDZ (PF00595)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00625    pfam00595    pfam00397   
Domain families : Smart (EMBL)GuKc (SM00072)  PDZ (SM00228)  WW (SM00456)  
Conserved Domain (NCBI)MAGI1
DMDM Disease mutations9223
Blocks (Seattle)MAGI1
PDB (SRS)1WBP    2KPK    2KPL    2Q9V    2R4H    2YSD    2YSE    2ZAJ    3BPU   
PDB (PDBSum)1WBP    2KPK    2KPL    2Q9V    2R4H    2YSD    2YSE    2ZAJ    3BPU   
PDB (IMB)1WBP    2KPK    2KPL    2Q9V    2R4H    2YSD    2YSE    2ZAJ    3BPU   
PDB (RSDB)1WBP    2KPK    2KPL    2Q9V    2R4H    2YSD    2YSE    2ZAJ    3BPU   
Structural Biology KnowledgeBase1WBP    2KPK    2KPL    2Q9V    2R4H    2YSD    2YSE    2ZAJ    3BPU   
SCOP (Structural Classification of Proteins)1WBP    2KPK    2KPL    2Q9V    2R4H    2YSD    2YSE    2ZAJ    3BPU   
CATH (Classification of proteins structures)1WBP    2KPK    2KPL    2Q9V    2R4H    2YSD    2YSE    2ZAJ    3BPU   
SuperfamilyQ96QZ7
Human Protein AtlasENSG00000151276
Peptide AtlasQ96QZ7
HPRD04020
IPIIPI00470759   IPI00165946   IPI00470761   IPI00382692   IPI00418147   IPI00470764   IPI00470765   IPI00939506   IPI00981446   IPI00980678   IPI00945268   IPI00945132   IPI00946188   
Protein Interaction databases
DIP (DOE-UCLA)Q96QZ7
IntAct (EBI)Q96QZ7
FunCoupENSG00000151276
BioGRIDMAGI1
STRING (EMBL)MAGI1
ZODIACMAGI1
Ontologies - Pathways
QuickGOQ96QZ7
Ontology : AmiGOprotein binding  ATP binding  nucleoplasm  cytoplasm  plasma membrane  cell-cell junction  adherens junction  bicellular tight junction  protein complex assembly  cell adhesion  cell surface receptor signaling pathway  protein C-terminus binding  cell junction  protein complex scaffold  cell projection  alpha-actinin binding  neuron death  
Ontology : EGO-EBIprotein binding  ATP binding  nucleoplasm  cytoplasm  plasma membrane  cell-cell junction  adherens junction  bicellular tight junction  protein complex assembly  cell adhesion  cell surface receptor signaling pathway  protein C-terminus binding  cell junction  protein complex scaffold  cell projection  alpha-actinin binding  neuron death  
Pathways : KEGGRap1 signaling pathway    Tight junction   
NDEx NetworkMAGI1
Atlas of Cancer Signalling NetworkMAGI1
Wikipedia pathwaysMAGI1
Orthology - Evolution
OrthoDB9223
GeneTree (enSembl)ENSG00000151276
Phylogenetic Trees/Animal Genes : TreeFamMAGI1
HOVERGENQ96QZ7
HOGENOMQ96QZ7
Homologs : HomoloGeneMAGI1
Homology/Alignments : Family Browser (UCSC)MAGI1
Gene fusions - Rearrangements
Fusion : MitelmanGAK/MAGI1 [4p16.3/3p14.1]  [t(3;4)(p14;p16)]  
Fusion : MitelmanMAGI1/DPH3 [3p14.1/3p25.1]  [t(3;3)(p14;p25)]  
Fusion : MitelmanMAGI1/TBC1D30 [3p14.1/12q14.3]  [t(3;12)(p14;q14)]  
Fusion : MitelmanNCOA1/MAGI1 [2p23.3/3p14.1]  [t(2;3)(p23;p14)]  
Fusion: TCGAGAK 4p16.3 MAGI1 3p14.1 BRCA
Fusion: TCGAMAGI1 3p14.1 DPH3 3p25.1 HNSC
Fusion: TCGAMAGI1 3p14.1 TBC1D30 12q14.3 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAGI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAGI1
dbVarMAGI1
ClinVarMAGI1
1000_GenomesMAGI1 
Exome Variant ServerMAGI1
ExAC (Exome Aggregation Consortium)MAGI1 (select the gene name)
Genetic variants : HAPMAP9223
Genomic Variants (DGV)MAGI1 [DGVbeta]
DECIPHERMAGI1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAGI1 
Mutations
ICGC Data PortalMAGI1 
TCGA Data PortalMAGI1 
Broad Tumor PortalMAGI1
OASIS PortalMAGI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAGI1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAGI1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MAGI1
DgiDB (Drug Gene Interaction Database)MAGI1
DoCM (Curated mutations)MAGI1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAGI1 (select a term)
intoGenMAGI1
Cancer3DMAGI1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602625   
Orphanet
MedgenMAGI1
Genetic Testing Registry MAGI1
NextProtQ96QZ7 [Medical]
TSGene9223
GENETestsMAGI1
Target ValidationMAGI1
Huge Navigator MAGI1 [HugePedia]
snp3D : Map Gene to Disease9223
BioCentury BCIQMAGI1
ClinGenMAGI1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9223
Chemical/Pharm GKB GenePA164742006
Clinical trialMAGI1
Miscellaneous
canSAR (ICR)MAGI1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAGI1
EVEXMAGI1
GoPubMedMAGI1
iHOPMAGI1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:06:11 CEST 2017

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