Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9223 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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MAGI1 |
SynonymsGene synonyms aliases
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AIP-3, AIP3, BAIAP1, BAP-1, BAP1, MAGI-1, MAGI-1b, Magi1d, TNRC19, WWP3 |
ChromosomeChromosome number
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3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3p14.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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