MAGI1: Membrane-Associated Guanylate Kinase Inverted 1
Scaffold protein involved in cell junction integrity and tumor suppression
Gene Information Card
| Symbol | MAGI1 |
|---|---|
| Full Name | Membrane associated guanylate kinase, WW and PDZ domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.1 |
| NCBI Gene ID | 9223 ncbi.nlm.nih.gov/gene/9223 |
| Ensembl ID | ENSG00000151276 |
| UniProt ID | Q96QZ7 |
| OMIM ID | 603625 |
| HGNC ID | 6823 |
| Aliases | MAGI-1, AIP3, BAIAP1, BAP1, TNRC19, WWP3 |
Description
MAGI1 encodes a membrane-associated guanylate kinase (MAGUK) family scaffold protein that contains multiple PDZ domains, a WW domain, and a guanylate kinase (GuK) domain. It localizes to cell junctions and acts as a scaffold organizing signaling complexes at the plasma membrane. MAGI1 is implicated in cell adhesion, polarity, and tumor suppression, with loss of expression observed in several cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Reduced MAGI1 expression correlates with increased metastasis and poor prognosis; loss of MAGI1 promotes beta-catenin signaling | PMID: 25944712 |
| Colorectal cancer | MAGI1 downregulation associated with tumor progression and epithelial-mesenchymal transition | PMID: 27535985 |
| Breast cancer | MAGI1 suppresses invasion and metastasis via PTEN stabilization | PMID: 21947068 |
| Cervical cancer | MAGI1 loss promotes HPV E6-mediated degradation and tumorigenesis | PMID: 17938202 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 18.5 | Medium |
| Liver | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Lung | 10.1 | Low |
| Heart | 8.3 | Low |
| Colon | 14.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | Embryonic kidney cells |
| HepG2 | 19.1 | Hepatocellular carcinoma |
| MCF7 | 11.3 | Breast cancer |
| HeLa | 9.8 | Cervical cancer |
| A549 | 7.5 | Lung adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; predicted protein truncation |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; frameshift leading to premature stop |
| c.2101G>A (p.Gly701Ser) | Missense | Rare | Unknown significance; located in PDZ domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; reduced expression in tumors.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell junction organization (Reactome: R-HSA-446728)
• Tight junction interactions (Reactome: R-HSA-420029)
• Adherens junction (KEGG: hsa04520)
• Wnt signaling pathway (KEGG: hsa04310)
Protein Summary
MAGI1 is a 1,281-amino-acid scaffold protein with 6 PDZ domains, 2 WW domains, and a GuK domain. It localizes to tight junctions and adherens junctions, where it recruits signaling molecules such as PTEN, beta-catenin, and HPV E6. MAGI1 stabilizes PTEN at the membrane, suppressing PI3K/AKT signaling. Loss of MAGI1 is common in cancers and promotes invasion, metastasis, and EMT.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGI1 Knockout HEK293 Cell Line | EDJ-KQ835 | Human | 9223 | Details Get a Quote |
| MAGI1 Knockout A-549 Cell Line | EDJ-KQ19617 | Human | 9223 | Details Get a Quote |
| MAGI1 Knockout HCT 116 Cell Line | EDJ-KQ19618 | Human | 9223 | Details Get a Quote |
| MAGI1 Knockout HeLa Cell Line | EDJ-KQ19619 | Human | 9223 | Details Get a Quote |
| MAGI1 (p.P789S) Point Mutation in HAP1 Cell Line | EDC03532 | Human | 9223 | Details Get a Quote |
| MAGI1 (c.3281-73T>C )Point Mutation in HAP1 Cell Line | EDC03530 | Human | 9223 | Details Get a Quote |
| MAGI1 (c.2467_2468del )Point Mutation in HAP1 Cell Line | EDC03531 | Human | 9223 | Details Get a Quote |
Displaying Records 1 To 7 Of 7 Records
