Gene Gene information from NCBI Gene database.
Entrez ID 9223
Gene name Membrane associated guanylate kinase, WW and PDZ domain containing 1
Gene symbol MAGI1
Synonyms (NCBI Gene)
AIP-3AIP3BAIAP1BAP-1BAP1MAGI-1MAGI-1bMagi1dTNRC19WWP3
Chromosome 3
Chromosome location 3p14.1
Summary 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 con
miRNA miRNA information provided by mirtarbase database.
186
miRTarBase ID miRNA Experiments Reference
MIRT017415 hsa-miR-335-5p Microarray 18185580
MIRT025370 hsa-miR-34a-5p Sequencing 20371350
MIRT030459 hsa-miR-24-3p Sequencing 20371350
MIRT042831 hsa-miR-324-3p CLASH 23622248
MIRT1125832 hsa-miR-101 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001886 Process Endothelial cell morphogenesis ISS
GO:0005515 Function Protein binding IPI 9647693, 11168587, 12097473, 12444549, 14627983, 16464232, 17267502, 22662192, 22898364, 23873930, 32296183, 33208464, 33961781, 37100772
GO:0005515 Function Protein binding TAS 9647739
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602625 946 ENSG00000151276
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96QZ7
Protein name Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 (Atrophin-1-interacting protein 3) (AIP-3) (BAI1-associated protein 1) (BAP-1) (Membrane-associated guanylate kinase inverted 1) (MAGI-1) (Trinucleotide repeat-containing gene 19
Protein function Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity). {E
PDB 1WBP , 2KPK , 2KPL , 2Q9V , 2R4H , 2YSD , 2YSE , 2ZAJ , 3BPU , 5N7D , 5N7F , 5N7G , 6TWU , 6TWX , 6TWY , 7P71
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00625 Guanylate_kin 126 200 Guanylate kinase Domain
PF16663 MAGI_u1 202 261 Disordered
PF00397 WW 302 331 WW domain Domain
PF00397 WW 361 390 WW domain Domain
PF00595 PDZ 472 552 PDZ domain Domain
PF00595 PDZ 642 720 PDZ domain Domain
PF16666 MAGI_u5 722 840 Disordered
PF00595 PDZ 841 922 PDZ domain Domain
PF00595 PDZ 998 1091 PDZ domain Domain
PF00595 PDZ 1152 1231 PDZ domain Domain
Tissue specificity 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
Sequence
MSKVIQKKNHWTSRVHECTVKRGPQGELGVTVLGGAEHGEFPYVGAVAAVEAAGLPGGGE
GPRLGEGELLLEVQGVRVSGLPRYDVLGVIDSCKEAVTFKAVRQGGRLNKDLRHFLNQRF
QKGSPDHELQQTIRDNLYRHAVPCTTRSPREGEVPGVDYNFLTVKEFLDLEQSGTLLEVG
TYEGNYYGTPKPPSQPVSGK
VITTDALHSLQSGSKQSTPKRTKSYNDMQNAGIVHAENEE
EDDVPEMNSSFTADSGEQEEH
TLQETALPPVNSSIIAAPITDPSQKFPQYLPLSAEDNLG
PLPENWEMAYTENGEVYFIDHNTKTTSWLDPRCLNKQQKPLEECEDDEGVHTEELDSELE
LPAGWEKIEDPVYGIYYVDHINRKTQYENPVLEAKRKKQLEQQQQQQQQQQQQQQQQQQQ
QTEEWTEDHSALVPPVIPNHPPSNPEPAREVPLQGKPFFTRNPSELKGKFIHTKLRKSSR
GFGFTVVGGDEPDEFLQIKSLVLDGPAALDGKMETGDVIVSVNDTCVLGHTHAQVVKIFQ
SIPIGASVDLEL
CRGYPLPFDPDDPNTSLVTSVAILDKEPIIVNGQETYDSPASHSSKTG
KVNGMKDARPSSPADVASNSSHGYPNDTVSLASSIATQPELITVHIVKGPMGFGFTIADS
PGGGGQRVKQIVDSPRCRGLKEGDLIVEVNKKNVQALTHNQVVDMLVECPKGSEVTLLVQ

RGGLPVPKKSPKSQPLERKDSQNSSQHSVSSHRSLHTASPSHSTQVLPEFPPAEAQAPDQ
TDSSGQKKPDPFKIWAQSRSMYENRPMSPSPASGLSKGEREREINSTNFGECPIPDYQEQ

DIFLWRKETGFGFRILGGNEPGEPIYIGHIVPLGAADTDGRLRSGDELICVDGTPVIGKS
HQLVVQLMQQAAKQGHVNLTVR
RKVVFAVPKTENEVPSPASSHHSSNQPASLTEEKRTPQ
GSQNSLNTVSSGSGSTSGIGSGGGGGSGVVSTVVQPYDVEIRRGENEGFGFVIVSSVSRP
EAGTTFAGNACVAMPHKIGRIIEGSPADRCGKLKVGDRILAVNGCSITNKSHSDIVNLIK
EAGNTVTLRII
PGDESSNATLLTNAEKIATITTTHTPSQQGTQETRNTTKPKQESQFEFK
APQATQEQDFYTVELERGAKGFGFSLRGGREYNMDLYVLRLAEDGPAERCGKMRIGDEIL
EINGETTKNMKHSRAIELIKNGGRRVRLFLK
RGDGSVPEYDPSSDRHGPATGPQGVPEVR
AGPDRRQHPSLESSYPPDLHKSSPHGEKRAHARDPKGSREYSRQPNEHHTWNGTSRKPDS
GACRPKDRAPEGRRDAQAERAAAANGPKRRSPEKRREGTRSADNTLERREKHEKRRDVSP
ERRRERSPTRRRDGSPSRRRRSLERLLEQRRSPERRRGGSPERRAKSTDRRRARSPERRR
ERSLDKRNREDRASHREREEANLKQDAGRSSRHPPEQRRRPYKECSTDLSI
Sequence length 1491
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Rap1 signaling pathway
PI3K-Akt signaling pathway
Tight junction
Human papillomavirus infection
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs2471614271 RCV004557786
Nonpapillary renal cell carcinoma Uncertain significance rs200362587 RCV005937556
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Aneurysm Abdominal Associate 25993293
Arthritis Psoriatic Associate 25990289
Autoimmune Diseases Associate 32141793
Breast Neoplasms Associate 25417742, 33707576, 37566008
Carcinogenesis Associate 33707576
Carcinoma Hepatocellular Associate 21942217
Carcinoma Non Small Cell Lung Associate 32016970
Colitis Collagenous Associate 29204743
Colitis Lymphocytic Associate 29204743
Colitis Microscopic Associate 29204743