MAGI1

Chr 3

membrane associated guanylate kinase, WW and PDZ domain containing 1

Also known as: AIP-3, AIP3, BAIAP1, BAP-1, BAP1, MAGI-1, MAGI-1b, Magi1d

NCBI Gene: 9223 ENSG00000151276 UniProt: Q96QZ7

MAGI1 encodes a scaffolding protein that assembles multiprotein complexes at cell-cell junctions and couples actin fibers to junctions in endothelial cells. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants (LOEUF 0.334), indicating intolerance to protein disruption.

ResearchSummary from RefSeq, UniProt

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 contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

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Mechanism

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