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

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9223
Gene nameGene Name - the full gene name approved by the HGNC.
Membrane associated guanylate kinase, WW and PDZ domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MAGI1
SynonymsGene synonyms aliases
AIP-3, AIP3, BAIAP1, BAP-1, BAP1, MAGI-1, MAGI-1b, Magi1d, TNRC19, WWP3
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.1
SummarySummary of gene provided in NCBI Entrez 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 con
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 9647693, 11168587, 12097473, 12444549, 14627983, 16464232, 17267502, 22662192, 23873930
GO:0005524 Function ATP binding IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
GO:0005737 Component Cytoplasm IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Rap1 signaling pathway
PI3K-Akt signaling pathway
Tight junction
Human papillomavirus infection
 
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 23685749
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 22381734
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety 29942085
Bipolar disorder Bipolar Disorder 22381734, 24215895
Crohn disease Crohn Disease rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438 25557950
Knee osteoarthritis Osteoarthritis, Knee 28916551

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