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ANKFY1

Function

Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes indicative for a regulation of retromer complex-mediated retrograde transport.

Tissue Specificity

High expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain.

Cellular localization

Alternative names

ANKHZN, KIAA1255, ANKFY1, Rabankyrin-5, Rank-5, Ankyrin repeat and FYVE domain-containing protein 1, Ankyrin repeats hooked to a zinc finger motif

swissprot:Q9P2R3 entrezGene:51479 omim:607927