APBB1IP

Chr 10

amyloid beta precursor protein binding family B member 1 interacting protein

Also known as: INAG1, PREL1, RARP1, RIAM

NCBI Gene: 54518 ENSG00000077420 UniProt: Q7Z5R6 OMIM: 609036

The APBB1IP protein mediates signal transduction from Ras activation to actin cytoskeletal remodeling and plays a role in Rap1-induced cell adhesion. This gene is highly constrained against loss-of-function mutations (pLI 0.85, LOEUF 0.37), suggesting that pathogenic variants would likely cause significant developmental or neurological phenotypes. However, no established human disease phenotype has been definitively linked to APBB1IP mutations in current medical literature.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in intracellular signal transduction. Predicted to act upstream of or within T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell and positive regulation of cell adhesion. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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

0.37

LOEUF

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Mechanism