Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Amyloid beta A4 precursor protein-binding family B member 1-interacting protein (APBB1-interacting protein 1) (Proline-rich EVH1 ligand 1) (PREL-1) (Proline-rich protein 73) (Rap1-GTP-interacting adapter molecule) (RIAM) (Retinoic acid-responsive proline-
Protein function
Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion. {ECO:0000269|PubMed:14530287, ECO:0000269|Pu
TISSUE SPECIFICITY: Widely expressed with high expression in thymus, spleen, lymph node, bone marrow and peripheral leukocytes. {ECO:0000269|PubMed:14530287, ECO:0000269|PubMed:15469846}.
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Rap1 signaling pathway","Platelet activation","Signaling by BRAF and RAF fusions","Integrin signaling","MAP2K and MAPK activation","Signaling by moderate kinase activity BRAF mutants","Signaling by high-kinase activity BRAF mutants","Paradoxical activation of RAF signaling by kinase inactive BRAF","Signaling downstream of RAS mutants","p130Cas linkage to MAPK signaling for integrins","GRB2:SOS provides linkage to MAPK signaling for Integrins "]
["Platelet activation","Signaling by BRAF and RAF fusions","Integrin signaling","MAP2K and MAPK activation","Signaling by moderate kinase activity BRAF mutants","Signaling by high-kinase activity BRAF mutants","Paradoxical activation of RAF signaling by kinase inactive BRAF","Signaling downstream of RAS mutants","p130Cas linkage to MAPK signaling for integrins","GRB2:SOS provides linkage to MAPK signaling for Integrins "]
["Signaling by BRAF and RAF fusions","MAP2K and MAPK activation","Signaling by moderate kinase activity BRAF mutants","Signaling by high-kinase activity BRAF mutants","Paradoxical activation of RAF signaling by kinase inactive BRAF","Signaling downstream of RAS mutants"]
["Signaling by BRAF and RAF fusions","MAP2K and MAPK activation","Signaling by moderate kinase activity BRAF mutants","Signaling by high-kinase activity BRAF mutants","Paradoxical activation of RAF signaling by kinase inactive BRAF","Signaling downstream of RAS mutants"]
["Signaling by BRAF and RAF fusions","MAP2K and MAPK activation","Signaling by moderate kinase activity BRAF mutants","Signaling by high-kinase activity BRAF mutants","Paradoxical activation of RAF signaling by kinase inactive BRAF","Signaling downstream of RAS mutants"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to APBB1IP (see Related Genes above), that are NOT already directly curated for APBB1IP itself -- a lead worth checking, not a confirmed association.